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Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies.
Risks in carriers were higher when based on index breast cancer cases diagnosed at <35 years of age and for variation in risk by mutation position for both genes, and some evidence for a reduction in risk in women from earlier birth cohorts is found.
Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers
To estimate age-specific risks of breast, ovarian, and contralateral breast cancer for mutation carriers and to evaluate risk modification by family cancer history and mutation location, a large cohort study recruited in 1997-2011 provides estimates of cancer risk based on BRCA1 and BRCa2 mutation carrier status.
Association analysis identifies 65 new breast cancer risk loci
A genome-wide association study of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry finds that heritability of Breast cancer due to all single-nucleotide polymorphisms in regulatory features was 2–5-fold enriched relative to the genome- wide average.
Gene-panel sequencing and the prediction of breast-cancer risk.
An international group of cancer geneticists review the level of evidence for the association of gene variants with the risk of breast cancer. It is difficult to draw firm conclusions from the data…
Polygenic susceptibility to breast cancer and implications for prevention
- P. Pharoah, A. Antoniou, M. Bobrow, R. Zimmern, D. Easton, B. Ponder
- Biology, MedicineNature Genetics
- 4 March 2002
The results suggest that the construction and use of genetic-risk profiles may provide significant improvements in the efficacy of population-based programs of intervention for cancers and other diseases.
Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.
- N. Mavaddat, S. Peock, D. Easton
- Medicine, BiologyJournal of the National Cancer Institute
- 5 June 2013
Prospective risk estimates for breast cancer, ovarian cancer, and contralateral breast cancer in a prospective series of mutation carriers confirm findings from retrospective studies that common breast cancer susceptibility alleles in combination are predictive of breast cancer risk for BRCA2 carriers.
Germline mutations in RAD51D confer susceptibility to ovarian cancer
It is shown that cells deficient in RAD51D are sensitive to treatment with a PARP inhibitor, suggesting a possible therapeutic approach for cancers arising in RAD 51D mutation carriers.
A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes
The findings suggest that several common, low penetrance genes with multiplicative effects on risk may account for the residual non-BRCA1/2 familial aggregation of breast cancer.
Variants in DNA double-strand break repair genes and breast cancer susceptibility.
Genetic association studies in a population-based breast cancer case-control study analysing polymorphisms in genes involved in homologous recombination and non-homologous end-joining found evidence for four common haplotypes and four rarer ones that appear to have arisen by recombination.
The BOADICEA model of genetic susceptibility to breast and ovarian cancer
This model provides a rational basis for risk assessment in individuals with a FH of breast or ovarian cancer and is closer to the observed values than those obtained using the Claus model and BRCAPRO.