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Breast cancer
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breast cancer
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CHEK2 1100delC
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Breast cancer genomes from CHEK2 c.1100delC mutation carriers lack somatic TP53 mutations and display a unique structural variant size distribution profile
Breast cancer risks associated with missense variants in breast cancer susceptibility genes
Rare germline copy number variants (CNVs) and breast cancer risk
Common variants in breast cancer risk loci predispose to distinct tumor subtypes
Endometrial cancer risk in women with germline BRCA1 or BRCA2 mutations
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
Breast cancer risk genes
Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk
Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Germline BRCA-Associated Endometrial Carcinoma Is a Distinct Clinicopathologic Entity
Shared heritability and functional enrichment across six solid cancers (vol 10, 431, 2019)
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers
Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study
Shared heritability and functional enrichment across six solid cancers
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation (vol 5, 4999, 2014)
BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS
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