Melissa Southey

Publications

• Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine
• Two-stage Study of Familial Prostate Cancer by Whole-exome Sequencing and Custom Capture Identifies 10 Novel Genes Associated with the Risk of Prostate Cancer
• Smoking and blood DNA methylation: an epigenome-wide association study and assessment of reversibility
• PALB2 Genetic Variants: Can Functional Assays Assist Translation?
• The utility of DNA extracted from saliva for genome-wide molecular research platforms
• Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci
• DNA methylation in breast tumor from high-risk women in the breast cancer family registry
• Heritable DNA methylation marks associated with susceptibility to breast cancer /631/67/69 /631/337/176/1988 /692/699/67/1347 /692/308/2056 /45 /45/61 article
• Adult height is associated with increased risk of ovarian cancer: A Mendelian randomisation study
• Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants
• Breast cancer risk prediction using a polygenic risk score in the familial setting: a prospective study from the Breast Cancer Family Registry and kConFab
• Is RNASEL: P.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?
• A prospective study of peripheral blood DNA methylation at RPTOR, MGRN1 and RAPSN and risk of breast cancer
• Blood pressure and risk of breast cancer, overall and by subtypes: A prospective cohort study
• Obtaining high quality transcriptome data from formalin-fixed, paraffin-embedded diagnostic prostate tumor specimens
• Epigenetic supersimilarity of monozygotic twin pairs
• Association between DNA methylation at SOCS3 gene and body mass index might be due to familial confounding
• Novel associations between blood DNA methylation and body mass index in middle-Aged and older adults
• The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
• Cohort Profile: Melbourne Atopy Cohort study (MACS)
• Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3
• Body mass index and breast cancer survival: A Mendelian randomization analysis
• Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
• Inference about causation between body mass index and DNA methylation in blood from a twin family study
• DNA methylation changes measured in pre-diagnostic peripheral blood samples are associated with smoking and lung cancer risk
• BRCA2 hypomorphic missense variants confer moderate risks of breast cancer
• Ejaculatory frequency and the risk of aggressive prostate cancer: Findings from a case-control study
• Association of DNA Methylation-Based Biological Age with Health Risk Factors and Overall and Cause-Specific Mortality
• Dietary intake of nutrients involved in one-carbon metabolism and risk of urothelial cell carcinoma: A prospective cohort study
• Associations of alcohol intake, smoking, physical activity and obesity with survival following colorectal cancer diagnosis by stage, anatomic site and tumor molecular subtype
• Somatic mutations of the coding microsatellites within the beta-2-microglobulin gene in mismatch repair-deficient colorectal cancers and adenomas
• FANCM and RECQL genetic variants and breast cancer susceptibility: Relevance to South Poland and West Ukraine
• DNA methylation-based biological aging and cancer risk and survival: Pooled analysis of seven prospective studies
• Causal effect of smoking on DNA methylation in peripheral blood: A twin and family study
• Cohort Profile: The Melbourne Collaborative Cohort Study (Health 2020)
• Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci
• A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer
• Characterisation of microbial communities within aggressive prostate cancer tissues
• Association analysis identifies 65 new breast cancer risk loci
• Germline variants in IL4, MGMT and AKT1 are associated with prostate cancer-specific mortality: An analysis of 12,082 prostate cancer cases
• Causes of blood methylomic variation for middle-aged women measured by the HumanMethylation450 array
• sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data
• Genome-wide DNA methylation assessment of ‘BRCA1-like’ early-onset breast cancer: Data from the Australian Breast Cancer Family Registry
• Stochastic Epigenetic Mutations Are Associated with Risk of Breast Cancer, Lung Cancer, and Mature B-cell Neoplasms
• DNA Methylation in Peripheral Blood and Risk of Gastric Cancer: A Prospective Nested Case–control Study
• Prospective Evaluation of the Addition of Polygenic Risk Scores to Breast Cancer Risk Models
• Androgens alter the heterogeneity of small extracellular vesicles and the small RNA cargo in prostate cancer
• Prognostic Impact of Total Plasma Cell-free DNA Concentration in Androgen Receptor Pathway Inhibitor–treated Metastatic Castration-resistant Prostate Cancer
• Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing
• Value of the loss of heterozygosity to BRCA1 variant classification
• Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
• Methylation of Breast Cancer Predisposition Genes in Early-Onset Breast Cancer: Australian Breast Cancer Family Registry
• Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers
• Breast Cancer Risk From Modifiable and Nonmodifiable Risk Factors Among White Women in the United States
• Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
• Lupus-related single nucleotide polymorphisms and risk of diffuse large B-cell lymphoma
• Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry
• Mammographic density and risk of breast cancer by tumor characteristics: A case-control study
• Height, selected genetic markers and prostate cancer risk: Results from the PRACTICAL consortium
• Evidence of a genetic link between endometriosis and ovarian cancer
• Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms
• Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts
• TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer
• BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers
• Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170
• Gene–environment interactions involving functional variants: Results from the Breast Cancer Association Consortium
• Genome-Wide Measures of Peripheral Blood Dna Methylation and Prostate Cancer Risk in a Prospective Nested Case-Control Study
• Cross-cancer genome-wide analysis of lung, ovary, breast, prostate, and colorectal cancer reveals novel pleiotropic associations
• Breast cancer risk prediction using clinical models and 77 independent risk-associated SNPs for women aged under 50 years: Australian breast cancer family registry
• Mammographic density defined by higher than conventional brightness thresholds better predicts breast cancer risk
• Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation
• Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study
• Association between Adult Height and Risk of Colorectal, Lung, and Prostate Cancer: Results from Meta-analyses of Prospective Studies and Mendelian Randomization Analyses
• Analysis of heritability and shared heritability based on genome-wide association studies for thirteen cancer types
• Prediction of breast and prostate cancer risks in male BRCA1 and BRCA2 mutation carriers using polygenic risk scores
• Genetic modifiers of CHEK2∗1100delC-associated breast cancer risk
• Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation
• Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia
• Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21
• Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry
• Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
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• Lifetime alcohol intake is associated with an increased risk of KRAS+ and BRAF-/KRAS- but not BRAF+ colorectal cancer
• Adult body mass index and risk of ovarian cancer by subtype: A Mendelian randomization study
• Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)
• Analysis of the breast cancer methylome using formalin-fixed paraffin-embedded tumour
• Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
• Twin birth changes DNA methylation of subsequent siblings
• Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer
• Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
• Total and beverage-specific alcohol intake and the risk of aggressive prostate cancer: a case–control study
• Evaluation of germline BRCA1 and BRCA2 mutations in a multi-ethnic Asian cohort of ovarian cancer patients
• ABRAXAS (FAM175A) and breast cancer susceptibility: No evidence of association in the breast cancer family registry
• Age-And tumor subtype-specific breast cancer risk estimates for CHEK2∗1100delC Carriers
• Fine-mapping of the 1p11.2 breast cancer susceptibility locus
• PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1
• Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer
• Reproductive profiles and risk of breast cancer subtypes: A multi-center case-only study
• Testing for gene-environment interactions using a prospective family cohort design: Body mass index in early and later adulthood and risk of breast cancer
• Investigating the genetic relationship between Alzheimer’s disease and cancer using GWAS summary statistics
• No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: Implications for gene panel testing
• Gene panel testing for hereditary breast cancer
• Mammographic density and risk of breast cancer by mode of detection and tumor size: A case-control study
• Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women
• Use of a novel nonparametric version of DEPTH to identify genomic regions associated with prostate cancer risk
• Mould-sensitized adults have lower Th2 cytokines and a higher prevalence of asthma than those sensitized to other aeroallergens
• Genome-wide meta-analyses of breast, ovarian, and prostate cancer association studies identify multiple new susceptibility loci shared by at least two cancer types
• Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
• Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer
• Strategies for integrated analysis of genetic, epigenetic, and gene expression variation in cancer: Addressing the challenges
• Multigene testing of moderate-risk genes: Be mindful of the missense
• Male breast cancer in BRCA1 and BRCA2 mutation carriers: Pathology data from the Consortium of Investigators of Modifiers of BRCA1/2
• Genetically predicted longer telomere length is associated with increased risk of B-cell lymphoma subtypes
• A comprehensive evaluation of interaction between genetic variants and use of menopausal hormone therapy on mammographic density
• Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent
• Heterogeneity of luminal breast cancer characterised by immunohistochemical expression of basal markers
• Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21
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• Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus
• Genome-wide measures of DNA methylation in peripheral blood and the risk of urothelial cell carcinoma: A prospective nested case-control study
• Rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk
• A large-scale analysis of genetic variants within putative miRNA binding sites in prostate cancer
• Annexin A1 expression in a pooled breast cancer series: Association with tumor subtypes and prognosis
• Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci
• Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia
• Reliability of DNA methylation measures from dried blood spots and mononuclear cells using the HumanMethylation450k BeadArray
• Abridged adapter primers increase the target scope of Hi-Plex
• RAD51B in familial breast cancer
• Genetic predisposition to ductal carcinoma in situ of the breast
• Mendelian randomization study of adiposity-related traits and risk of breast, ovarian, prostate, lung and colorectal cancer
• Epithelial-Mesenchymal Transition (EMT) Gene Variants and Epithelial Ovarian Cancer (EOC) Risk
• Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium
• Association of breast cancer risk loci with breast cancer survival
• An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression
• Global measures of peripheral blood-derived DNA methylation as a risk factor in the development of mature B-cell neoplasms
• Common germline polymorphisms associated with breast cancer-specific survival
• Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk
• Genes associated with histopathologic features of triple negative breast tumors predict molecular subtypes
• Pubertal development and prostate cancer risk: Mendelian randomization study in a population-based cohort
• Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer
• PALB2: Research reaching to clinical outcomes for women with breast cancer
• No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
• Common genetic variation in cellular transport genes and epithelial ovarian cancer (EOC) risk
• SNP rs16906252C>T is an expression and methylation quantitative trait locus associated with an increased risk of developing MGMT-methylated colorectal cancer
• Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families
• PALB2, CHEK2 and ATM rare variants and cancer risk: Data from COGS
• The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk
• Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the colon cancer family registry cohort
• Candidate genetic modifiers for breast and ovarian cancer risk inBRCA1andBRCA2 mutation carriers
• Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH
• Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots
• A three-protein biomarker panel assessed in diagnostic tissue predicts death from prostate cancer for men with localized disease
• The SNP rs6500843 in 16p13.3 is associated with survival specifically among chemotherapy-treated breast cancer patients
• Genome-wide significant risk associations for mucinous ovarian carcinoma
• A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age
• A genome-wide "pleiotropy scan" does not identify new susceptibility Loci for estrogen receptor negative breast cancer
• Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer
• Height and breast cancer risk: Evidence from prospective studies and mendelian randomization
• Second primary breast cancer in BRCA1 and BRCA2 mutation carriers: 10-year cumulative incidence in the Breast Cancer Family Registry
• Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores
• Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry
• Comparison of mRNA splicing assay protocols across multiple laboratories: Recommendations for best practice in standardized clinical testing
• Network-based integration of GWAS and gene expression identifies a HOX-centric network associated with serous ovarian cancer risk
• Associations of mammographic dense and nondense areas and body mass index with risk of breast cancer
• Breast-cancer risk in families with mutations in PALB2
• Interpretation of genomic variation and disease association: the great missense mutation challenge!
• Prediction of individual genetic risk to prostate cancer using a polygenic score
• Role of tumour molecular and pathology features to estimate colorectal cancer risk for first-degree relatives
• 2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy
• Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair
• Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2
• SNP-SNP interaction analysis of NF-κB signaling pathway on breast cancer survival
• Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair
• Genome-wide association study of prostate cancer-specific survival
• The effects of height and BMI on prostate cancer incidence and mortality: a Mendelian randomization study in 20,848 cases and 20,214 controls from the PRACTICAL consortium
• Identification of novel genetic markers of breast cancer survival
• Prediction of breast cancer risk based on profiling with common genetic variants
• Fine-scale mapping of the 4q24 locus identifies & pr two Independent loci associated with breast cancer risk
• Breast-cancer risk in families with mutations in PALB2
• Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans
• Tools for translational epigenetic studies involving formalin-fixed paraffin-embedded human tissue: Applying the Infinium HumanMethyation450 Beadchip assay to large population-based studies
• Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression
• Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
• Novel associations between common breast cancer susceptibility variants and risk-predicting mammographic density measures
• Gene-panel sequencing and the prediction of breast-cancer risk
• Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1
• Evaluating the ovarian cancer gonadotropin hypothesis: A candidate gene study
• Erratum: Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk (Nature Communications (2014) 5:5303 (DOI:10.1038/ncomms6303))
• A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer
• Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors
• Identification of six new susceptibility loci for invasive epithelial ovarian cancer
• Hypomethylation of smoking-related genes is associated with future lung cancer in four prospective cohorts
• Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21
• Risk analysis of prostate cancer in practical, a multinational consortium, using 25 known prostate cancer susceptibility loci
• Genetic and Environmental Causes of Variation in the Difference Between Biological Age Based on DNA Methylation and Chronological Age for Middle-Aged Women
• Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk
• Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk
• Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk
• Common non-synonymous SNPs associated with breast cancer susceptibility: Findings from the Breast Cancer Association Consortium
• A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium
• Epigenome-wide methylation in DNA from peripheral blood as a marker of risk for breast cancer
• Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer
• COMPLEXO: Identifying the missing heritability of breast cancer via next generation collaboration
• Detection of infectious organisms in archival prostate cancer tissues
• Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk
• Explaining variance in the Cumulus mammographic measures that predict breast cancer risk: A twins and sisters study
• FAVR (Filtering and Annotation of Variants that are Rare): Methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets
• Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma
• Adult serum cytokine concentrations and the persistence of asthma
• A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease
• DNA mismatch repair gene MSH6 implicated in determining age at natural menopause
• Genome-wide association studies identify four ER negative-specific breast cancer risk loci
• Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array
• GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer
• Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
• Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer
• Reproductive risk factors and oestrogen/progesterone receptor-negative breast cancer in the Breast Cancer Family Registry
• Colorectal carcinomas with KRAS mutation are associated with distinctive morphological and molecular features
• Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer
• Molecular Characterization and Cancer Risk Associated with BRCA1 and BRCA2 Splice Site Variants Identified in Multiple-Case Breast Cancer Families
• Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk
• Should the grading of colorectal adenocarcinoma include microsatellite instability status?
• Re: Microsatellite instability and BRAF mutation testing in colorectal cancer prognostication
• FGF receptor genes and breast cancer susceptibility: Results from the Breast Cancer Association Consortium
• Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast
• Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33
• Evidence of Gene-Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors
• DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
• Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: A case-control study
• Effects of Tamoxifen and oestrogen on histology and radiographic density in high and low mammographic density human breast tissues maintained in murine tissue engineering chambers
• Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
• Fine-scale mapping of the FGFR2 breast cancer risk locus: Putative functional variants differentially bind FOXA1 and E2F1
• Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: Results from a Breast Cancer Family Registry case-control mutation-screening study
• Hi-Plex for high-throughput mutation screening: Application to the breast cancer susceptibility gene PALB2
• Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: A genome-wide interaction study
• Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31
• Dynamic changes in high and low mammographic density human breast tissues maintained in murine tissue engineering chambers during various murine peripartum states and over time
• Diagnostic chest x-rays and breast cancer risk before age 50 years for BRCA1 and BRCA2 mutation carriers
• Evaluation of a 5-Tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: Inter-reviewer variability and promotion of minimum reporting guidelines
• Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA
• Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions
• Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers
• A high-plex PCR approach for massively parallel sequencing
• Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation
• MicroRNA related polymorphisms and breast cancer risk
• Confirmation of the reduction of hormone replacement therapy-related breast cancer risk for carriers of the HSD17B1-937-G variant
• Refined histopathological predictors of BRCA1 and BRCA2 mutation status: A large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia
• Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade
• Rare mutations in RINT1 predispose carriers to breast and lynch syndrome-Spectrum cancers
• Cross-platform compatibility of Hi-Plex, a streamlined approach for targeted massively parallel sequencing
• PALB2 and breast cancer: Ready for clinical translation!
• Genome-wide association analysis identifies three new breast cancer susceptibility loci
• Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers
• Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: A prospective cohort study
• Using SNP genotypes to improve the discrimination of a simple breast cancer risk prediction model
• A genome-wide linkage study of mammographic density, a risk factor for breast cancer
• 9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: Evidence from the Breast Cancer Association Consortium
• Breast cancer prognosis in BRCA1 and BRCA2 mutation carriers: An international prospective breast cancer family registry population-based cohort study
• Body size and risk for colorectal cancers showing BRAF mutations or microsatellite instability: A pooled analysis
• 19p13.1 Is a triple-negative-specific breast cancer susceptibility locus
• Risk factors for uncommon histologic subtypes of breast cancer using centralized pathology review in the Breast Cancer Family Registry
• Large-scale genotyping identifies 41 new loci associated with breast cancer risk
• Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
• Tumour morphology of early-onset breast cancers predicts breast cancer risk for first-degree relatives: the Australian Breast Cancer Family Registry
• The postmenopausal hormone replacement therapy-related breast cancer risk is decreased in women carrying the CYP2C19*17 variant
• Population-Based Estimate of Prostate Cancer Risk for Carriers of the HOXB13 Missense Mutation G84E
• Mammographic breast density and breast cancer: Evidence of a shared genetic basis
• Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families
• Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk
• Associations of breast cancer risk factors with tumor subtypes: A pooled analysis from the breast cancer association consortium studies
• Breast cancer risk for noncarriers of family-specific BRCA1 and BRCA2 mutations: Findings from the breast cancer family registry
• Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers
• Rare mutations in XRCC2 increase the risk of breast cancer
• Body mass index in early adulthood and endometrial cancer risk for mismatch repair gene mutation carriers
• The use of DNA from archival dried blood spots with the Infinium HumanMethylation450 array
• PIK3CA Activating Mutation in Colorectal Carcinoma: Associations with Molecular Features and Survival
• Interleukin-6 promoter variants, prostate cancer risk, and survival
• Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers
• RAD51 and Breast Cancer Susceptibility: No Evidence for Rare Variant Association in the Breast Cancer Family Registry Study
• Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: Results from the consortium of investigators of modifiers of BRCA1/2 (CIMBA)
• A role for XRCC2 gene polymorphisms in breast cancer risk and survival
• CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer
• Breast cancer risk and 6q22.33: Combined results from breast cancer association consortium and consortium of investigators on modifiers of brca1/2
• Comparison of 6q25 breast cancer hits from Asian and European genome wide association studies in the Breast Cancer Association consortium (BCAC)
• PREDICT Plus: Development and validation of a prognostic model for early breast cancer that includes HER2
• Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles
• Identification of fifteen novel germline variants in the BRCA1 3′UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site
• Associations of common variants at 1p11.2 and 14q24.1 (RAD51l1) with breast cancer risk and heterogeneity by tumor subtype: Findings from the Breast Cancer Association Consortium
• Prospective validation of the breast cancer risk prediction model BOADICEA and a batch-mode version BOADICEACentre
• A common variant at the TERT-CLPTM1L locus is associated with estrogen receptorĝ€"negative breast cancer
• 11q13 is a susceptibility locus for hormone receptor positive breast cancer
• A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11
• Using tumour pathology to identify people at high genetic risk of breast and colorectal cancers
• Identification of a novel percent mammographic density locus at 12q24
• The role of genetic breast cancer susceptibility variants as prognostic factors
• High and low mammographic density human breast tissues maintain histological differential in murine tissue engineering chambers
• 7q21-rs6964587 and breast cancer risk: An extended case-control study by the Breast Cancer Association Consortium
• The incidence of PALB2 c.3113G>A in women with a strong family history of breast and ovarian cancer attending familial cancer centres in Australia
• Tumour morphology predicts PALB2 germline mutation status
• A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers
• Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian breast cancer family study
• Dependence of colorectal cancer risk on the parent-of-origin of mutations in DNA mismatch repair genes
• FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: No evidence for association with risk for breast cancer
• Molecular characterization of breast cancer in young Brazilian women,Caracterização molecular do câncer de mama em mulheres brasileiras jovens
• Design considerations for massively parallel sequencing studies of complex human disease
• Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
• The potential value of sibling controls compared with population controls for association studies of lifestyle-related risk factors: An example from the breast cancer family registry
• A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population
• Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls
• Socio-economic Status and Survival from breast cancer for young, Australian, urban women
• Sibship analysis of associations between SNP haplotypes and a continuous trait with application to mammographic density
• Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: Findings from the Breast Cancer Association Consortium
• Image-guided sampling reveals increased stroma and lower glandular complexity in mammographically dense breast tissue
• Rare variants in the ATM gene and risk of breast cancer
• Identification of a novel prostate cancer susceptibility variant in the KLK3 gene transcript
• Response to Presence of MMTV-like env gene sequences in human breast cancer
• Morphological predictors of BRCA1 germline mutations in young women with breast cancer
• Detecting differential allelic expression using high-resolution melting curve analysis: Application to the breast cancer susceptibility gene CHEK2
• Comprehensive analysis of the cytokine-rich chromosome 5q31.1 region suggests a role for IL-4 gene variants in prostate cancer risk
• Are PALB2 mutations associated with increased risk of male breast cancer?
• Common genetic variants associated with breast cancer and mammographic density measures that predict disease
• Confirmation of 5p12 as a susceptibility locus for progesterone-receptor- positive, lower grade breast cancer
• Null findings with respect to MMTV-like env sequences in human breast cancer
• The rs12975333 variant in the miR-125a and breast cancer risk in Germany, Italy, Australia and Spain
• Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers
• Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age
• Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: A combined case-control study
• A PALB2 mutation associated with high risk of breast cancer
• HFE c282y homozygotes are at increased risk of breast and colorectal cancer
• Family-based association study of IGF1 microsatellites and height, weight, and body mass index
• Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: The advantage of more extensive colon surgery
• Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers
• Common genetic variants and modification of penetrance of BRCA2-associated breast cancer
• No evidence of MMTV-like env sequences in specimens from the Australian Breast Cancer Family Study
• Constitutional methylation of the BRCA1 promoter is specifically associated with BRCA1 mutation-associated pathology in early-onset breast cancer
• Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival
• Letter in response to "Identifying Lynch syndrome" by de la Chapelle et al.
• Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: Results from a breast cancer family registry case-control mutation-screening study
• Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers
• Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk
• A BRCA1 promoter variant (rs11655505) and breast cancer risk
• Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: A report from The Breast Cancer Family Registry
• Prostate cancer segregation analyses using 4390 families from UK and Australian population-based studies
• Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer
• Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study
• Common variants in ZNF365 are associated with both mammographic density and breast cancer risk
• Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer
• Plasma concentration of Propionibacterium acnes antibodies and prostate cancer risk: Results from an Australian population-based case-control study
• Increased cancer risks for relatives of very early-onset breast cancer cases with and without BRCA1 and BRCA2 mutations
• Exploring the link between MORF4L1 and risk of breast cancer
• Is uptake of genetic testing for colorectal cancer influenced by knowledge of insurance implications?
• Molecular screening of all colorectal tumors diagnosed before age 5ft years followed by genetic testing efficiently identifies lynch syndrome cases
• Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?
• A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2
• Multiple novel prostate cancer predisposition loci confirmed by an international study: The PRACTICAL consortium
• BRCA2 mutation-associated breast cancers exhibit a distinguishing phenotype based on morphology and molecular profiles from tissue microarrays
• The BARD1 Cys557Ser polymorphism and breast cancer risk: An Australian case-control and family analysis
• Multiple loci on 8q24 associated with prostate cancer susceptibility
• A common coding variant in CASP8 is associated with breast cancer risk
• Identification of seven new prostate cancer susceptibility loci through a genome-wide association study
• BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: An open resource for collaborative research
• A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3
• Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2
• Five polymorphisms and breast cancer risk: Results from the breast cancer association consortium
• No association between common chemokine and chemokine receptor gene variants and prostate cancer risk
• A range of simple summary genome-wide statistics for detecting genetic linkage using high density marker data
• Prediagnosis reproductive factors and all-cause mortality for women with breast cancer in the breast cancer family registry
• HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity
• A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis
• Molecular screening of all colorectal tumors diagnosed before age 50 years followed by genetic testing efficiently identifies Lynch syndrome cases.
• Association of ESR1 gene tagging SNPs with breast cancer risk
• Familial correlations in postmenopausal serum concentrations of sex steroid hormones and other mitogens: A twins and sisters study
• Family history of breast cancer and all-cause mortality after breast cancer diagnosis in the Breast Cancer Family Registry
• Subtyping of breast cancer by immunohistochemistry to investigate a relationship between subtype and short and long term survival: A collaborative analysis of data for 10,159 cases from 12 studies
• BRCA1 promoter deletions in young women with breast cancer and a strong family history: A population-based study
• Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer
• The Natural History of Serum Iron Indices for HFE C282Y Homozygosity Associated With Hereditary Hemochromatosis
• Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer
• Iron-overload-related disease in HFE hereditary hemochromatosis
• Smoking and risk of breast cancer in carriers of mutations in BRCA1 or BRCA2 aged less than 50 years
• A systematic approach to analysing gene-gene interactions: Polymorphisms at the microsomal epoxide hydrolase EPHX and glutathione S-transferase GSTM1, GSTT1, and GSTP1 loci and breast cancer risk
• 5α-reductase type 2 gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia
• Multiple newly identified loci associated with prostate cancer susceptibility
• Identification of new genetic risk factors for prostate cancer
• Is MSH2 a breast cancer susceptibility gene?
• Is BRCA2 c.9079 G > A a predisposing variant for early onset breast cancer?
• Family-based genetic association study of insulin-like growth factor i microsatellite markers and premenopausal breast cancer risk
• Towards more effective and equitable genetic testing for BRCA1 and BRCA2 mutation carriers
• Ethnicity and risk for colorectal cancers showing somatic BRAF V600E mutation or CpG island methylator phenotype
• No evidence that GATA3 rs570613 SNP modifies breast cancer risk
• The RAD51D E233G variant and breast cancer risk: Population-based and clinic-based family studies of Australian women
• The 4q27 locus and prostate cancer risk
• Penetrance analysis of the PALB2 c.1592deIT founder mutation
• The role of SMAD4 in early-onset colorectal cancer
• Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics
• Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042
• The rs743572 common variant in the promoter of CYP17A1 is not associated with prostate cancer risk or circulating hormonal levels
• The BOADICEA model of genetic susceptibility to breast and ovarian cancers: Updates and extensions
• Germ-line variation at a functional p53 binding site increases susceptibility to breast cancer development
• The BOADICEA model of genetic susceptibility to breast and ovarian cancers: Updates and extensions (British Journal of Cancer (2008) 98, (1457-1466) DOI: 10.1038/sj.bjc.6604305)
• The HER2 I655V Polymorphism and Risk of Breast Cancer in Women < Age 40 Years
• A protein-truncating mutation in CYP17A1 in three sisters with early-onset breast cancer
• ELAC2/HPC2 polymorphisms, prostate-specific antigen levels, and prostate cancer
• Macrophage inhibitory cytokine-1 H6D polymorphism, prostate cancer risk, and survival
• Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families.
• Variants in the prostate-specific antigen (PSA) gene and prostate cancer risk, survival, and circulating PSA
• Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinics
• The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers.
• Uptake of offer to receive genetic information about BRCA1 and BRCA2 mutations in an Australian population-based study
• Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies
• The E211 G>A androgen receptor polymorphism is associated with a decreased risk of metastatic prostate cancer and androgenetic alopecia
• Genetic variants in the vitamin D receptor gene and prostate cancer risk
• Regressive logistic and proportional hazards disease models for within-family analyses of measured genotypes, with application to a CYP17 polymorphism and breast cancer
• Genome-wide association study identifies novel breast cancer susceptibility loci
• The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer.
• Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer
• CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors: Australian Breast Cancer Family Study.
• Uncommon CHEK2 mis-sense variant and reduced risk of tobacco-related cancers: Case - Control study
• Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T > G and c.1066-6T > G (IVS10-6T > G) from the breast cancer family registry
• Validation study of the lambda model for predicting the BRCA1 or BRCA2 mutation carrier status of North American Ashkenazi Jewish women
• Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability
• BRCA1 and BRCA2 mutation carriers, oral contraceptive use, and breast cancer before age 50
• Familial risks, early-onset breast cancer, and BRCA1 and BRCA2 germline mutations
• Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance
• Erratum: A common coding variant in CASP8 is associated with breast cancer risk (Nature Genetics (2007) 39, (352-358))
• After hMSH2 and hMLH1 - What next? Analysis of three-generational, population-based, early-onset colorectal cancer families
• Cytomegalovirus, Epstein-Barr virus and risk of breast cancer before age 40 years: A case-control study
• A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1
• No increased risk of breast cancer associated with alcohol consumption among carriers of BRCA1 and BRCA2 mutations ages <50 years
• The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers
• Large genomic alterations in hMSH2 and hMLH1 in early-onset colorectal cancer: Identification of a large complex de novo hMLH1 alteration [1]
• A genome wide linkage search for breast cancer susceptibility genes
• An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome
• In reply [6]
• Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants
• Rationale for, and approach to, studying modifiers of risk in persons with a genetic predisposition to colorectal cancer
• The AIB1 glutamine repeat polymorphism is not associated with risk of breast cancer before age 40 years in Australian women
• Microsatellite instability markers for identifying early-onset colorectal cancers caused by germ-line mutations in DNA mismatch repair genes
• Cancer Risks For Mismatch Repair Gene Mutation Carriers: A Population-Based Early Onset Case-Family Study
• Oral contraceptive use and risk of early-onset breast cancer in carriers and noncarriers of BRCA1 and BRCA2 mutations
• Medical radiation exposure and breast cancer risk: Findings from the Breast Cancer Family Registry
• Mammographic density and candidate gene variants: A twins and sisters study
• Low somatic K-ras mutation frequency in colorectal cancer diagnosed under the age of 45 years
• Log odds of carrying an ancestral mutation in BRCA1 or BRCA2for a defined personal and family history in an ashkenazi jewish woman (LAMBDA)
• Rationale for, and approach to, studying modifiers of risk in persons with a genetic predisposition to colorectal cancer
• Double-strand break repair gene polymorphisms and risk of breast or ovarian cancer
• The common variant rs1447295 on chromosome 8q24 and prostate cancer risk: Results from an Australian population-based case-control study
• Risk factors for breast cancer in young women by oestrogen receptor and progesterone receptor status
• Macrophage scavenger receptor 1 999C>T (R293X) mutation and risk of prostate cancer
• Two ATM variants and breast cancer risk.
• CYP17 promoter polymorphism and breast cancer in Australian women under age forty years
• Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2
• Re: HRAS1 rare minisatellite alleles and breast cancer in Australian women under age forty years [2] (multiple letters)
• Stanniocalcin 2 is an estrogen-responsive gene coexpressed with the estrogen receptor in human breast cancer
• Overexpression of the steroid receptor coactivator AIB1 in breast cancer correlates with the absence of estrogen and progesterone receptors and positivity for p53and HER2h/neu
• The molecular pathology of early-onset breast cancer
• The steroid 5α-reductase type II TA repeat polymorphism is not associated with risk of breast or ovarian cancer in Australian women
• The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years
• Regulation of membrane-associated tyrosine phosphatases in UMR 106.06 osteoblast-like cells
• Disseminated, multiclonal epstein-barr virus-associated lymphoproliferative disease in a patient with hematological and immunological anomalies: Molecular analysis correlates with morphological appearance
• The progesterone receptor exon 4 Val660Leu G/T polymorphism and risk of breast cancer in Australian women
• Expression of the P2Y6 purinergic receptor in human T cells infiltrating inflammatory bowel disease
• Distinct molecular pathogeneses of early-onset breast cancers in BRCA1 and BRCA2 mutation carriers: A population-based study
• Clinical case seminars: Germline RET codon 918 mutation in apparently isolated intestinal ganglioneuromatosis
• CFTR ΔF508 carrier status, risk of breast cancer before the age of 40 and histological grading in a population-based case-control study
• Lymphoproliferative disease of donor origin arising in patients after orthotopic liver transplantation
• De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation [4]
• Mutation analysis of BRCA1 and BRCA2 cancer predisposition genes in radiation hypersensitive cancer patients
• HRAS1 rare minisatellite alleles and breast cancer in Australian women under age forty years
• Molecular cloning and sequencing of a novel human P2 nucleotide receptor
• Chromosomal localization of the human P2y6purinoceptor gene and phylogenetic analysis of the P2y purinoceptor family
• Androgen receptor exon 1 CAG repeat length and breast cancer in women before age forty years
• Active tyrosine phosphatase in immunoprecipitates of multiple isoforms of Ly-5
• Adaptive evolution of the tumour suppressor BRCA1 in humans and chimpanzees
• Molecular analysis in the diagnosis of pediatric lymphomas
• EWS/FLI-1 fusion transcript detection and MIC2 immunohistochemical staining in the diagnosis of Ewing's sarcoma
• Spatiotemporally exact cDNA libraries from quail embryos: A resource for studying neural crest development and neurocristopathies
• Coexistent T-cell lymphoblastic lymphoma and an atypical myeloproliferative disorder associated with t(8;13)(p21;q14)
• Molecular pathologic analysis enhances the diagnosis and management of Muir-Torre syndrome and gives insight into its underlying molecular pathogenesis
• Primary cutaneous ewing’s sarcoma peripheral primitive neuroectodermal tumors in childhood a molecular cytogenetic, and immunohistochemical study
• BRCA1 mutations and other sequence variants in a population-based sample of Australian women with breast cancer
• After BRCA1 and BRCA2 - What next? Multifactorial segregation analyses of three-generation, population-based Australian families affected by female breast cancer
• Estrogen receptor polymorphism at codon 325 and risk of breast cancer in women before age forty
• Novel DNA sequence variants in the hHR21 DNA repair gene in radiosensitive cancer patients
• The histologic phenotypes of breast carcinoma occurring before age 40 years in women with and without BRCA1 or BRCA2 germline mutations: A population-based study
• Comparison of DNA- and RNA-based methods for detection of truncating BRCA1 mutations
• Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM
• The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
• Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms
• Fine-scale mapping of the 4q24 locus identifies & pr two Independent loci associated with breast cancer risk
• SNP rs16906252C>T is an expression and methylation quantitative trait locus associated with an increased risk of developing MGMT-methylated colorectal cancer
• The incidence of PALB2 c.3113G>A in women with a strong family history of breast and ovarian cancer attending familial cancer centres in Australia
• Is BRCA2 c.9079 G > A a predisposing variant for early onset breast cancer?
• Overexpression of the steroid receptor coactivator AIB1 in breast cancer correlates with the absence of estrogen and progesterone receptors and positivity for p53and HER2h/neu
• The HER2 I655V Polymorphism and Risk of Breast Cancer in Women < Age 40 Years
• The E211 G>A androgen receptor polymorphism is associated with a decreased risk of metastatic prostate cancer and androgenetic alopecia
• Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T > G and c.1066-6T > G (IVS10-6T > G) from the breast cancer family registry
• No increased risk of breast cancer associated with alcohol consumption among carriers of BRCA1 and BRCA2 mutations ages <50 years
• Macrophage scavenger receptor 1 999C>T (R293X) mutation and risk of prostate cancer
• Chromosomal localization of the human P2y6purinoceptor gene and phylogenetic analysis of the P2y purinoceptor family