ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
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48 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.
- Summary ofGenes · 2020Pooled it
- Recent Advances in Genetic Testing and Clinical Management of Hereditary Breast and Ovarian Cancer (HBOC) in India.Cancer medicine · 2026Review
- Multimodal analysis of a rare BARD1 missense variant suggests its pathogenicity is conditional.NPJ breast cancer · 2026Article
- The Genetic and Molecular Analyses of Rare Candidate GermlineInternational journal of molecular sciences · 2026Article
- High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia.International journal of molecular sciences · 2024Article
- Untapped Potential of Poly(ADP-Ribose) Polymerase Inhibitors: Lessons Learned From the Real-World Clinical Homologous Recombination Repair Mutation Testing.World journal of oncology · 2024Article
- Mutations ofGenes · 2023Article
- Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort.Cancers · 2023Article
- UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes:Journal of medical genetics · 2023Article
- Clinical characteristics and survival analysis of Chinese ovarian cancer patients with RAD51D germline mutations.BMC cancer · 2022Article
- Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.Cancer research and treatment · 2022Article
- Alterations in Homologous Recombination-Related Genes and Distinct Platinum Response in Metastatic Triple-Negative Breast Cancers: A Subgroup Analysis of the ProfiLER-01 Trial.Journal of personalized medicine · 2022Article
- Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition.Journal of human genetics · 2022Article
- First international workshop of the ATM and cancer risk group (4-5 December 2019).Familial cancer · 2022Review
- Consensus Recommendations of the German Consortium for Hereditary Breast and Ovarian Cancer.Breast care (Basel, Switzerland) · 2022Review
- Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2-negative individuals who had genetic testing in a large urban comprehensive cancer center.Cancer medicine · 2022Article
- Risk-Reducing Bilateral Salpingo-Oophorectomy for Ovarian Cancer: A Review and Clinical Guide for Hereditary Predisposition Genes.JCO oncology practice · 2022Review
- Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.Scientific reports · 2022Article
- Homologous Recombination Deficiency in Ovarian, Breast, Colorectal, Pancreatic, Non-Small Cell Lung and Prostate Cancers, and the Mechanisms of Resistance to PARP Inhibitors.Frontiers in oncology · 2022Review
- Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.NPJ breast cancer · 2021Article
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Authors and funding
21 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeIntegration of gene panels in the diagnosis of hereditary breast and ovarian cancer (HBOC) requires a careful evaluation of the risk associated with pathogenic or likely pathogenic variants (PVs) detected in each gene. Here we analyzed 34 genes in 5131 suspected HBOC index cases by next-generation sequencing.
methodsUsing the Exome Aggregation Consortium data sets plus 571 individuals from the French Exome Project, we simulated the probability that an individual from the Exome Aggregation Consortium carries a PV and compared it to the estimated frequency within the HBOC population.
resultsOdds ratio conferred by PVs within BRCA1, BRCA2, PALB2, RAD51C, RAD51D, ATM, BRIP1, CHEK2, and MSH6 were estimated at 13.22 [10.01-17.22], 8.61 [6.78-10.82], 8.22 [4.91-13.05], 4.54 [2.55-7.48], 5.23 [1.46-13.17], 3.20 [2.14-4.53], 2.49 [1.42-3.97], 1.67 [1.18-2.27], and 2.50 [1.12-4.67], respectively. PVs within RAD51C, RAD51D, and BRIP1 were associated with ovarian cancer family history (OR = 11.36 [5.78-19.59], 12.44 [2.94-33.30] and 3.82 [1.66-7.11]). PALB2 PVs were associated with bilateral breast cancer (OR = 16.17 [5.48-34.10]) and BARD1 PVs with triple-negative breast cancer (OR = 11.27 [3.37-25.01]). Burden tests performed in both patients and the French Exome Project population confirmed the association of PVs of BRCA1, BRCA2, PALB2, and RAD51C with HBOC.
conclusionOur results validate the integration of PALB2, RAD51C, and RAD51D in the diagnosis of HBOC and suggest that the other genes are involved in an oligogenic determinism.
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