ArticleCancer medicine2019
Association between family history, mutation locations, and prevalence of BRCA1 or 2 mutations in ovarian cancer patients.
Article in Cancer medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 22 citations in OpenAlex.
- Treatment Patterns, Clinical Outcomes and Quality of Life in BRCA1/2-Associated Breast Cancer Patients: A Retrospective Analysis.Current oncology (Toronto, Ont.) · 2025Article
- BRCA1/2 mutations and outcomes among Middle Eastern patients with early-onset breast cancer in Oman.The oncologist · 2024Article
- BRCA1/2 Mutations and Breast/Ovarian Cancer Risk: A New Insights Review.Reproductive sciences (Thousand Oaks, Calif.) · 2024Review
- 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
- Synchronous and Metachronous Breast and Ovarian Cancers: Experience from a Single Tertiary Care Cancer Centre in India.Indian journal of surgical oncology · 2023Article
- The Impact of BRCA1 Expression on Survival Status in Ovarian Serous Carcinoma of Egyptian Patients.Asian Pacific journal of cancer prevention : APJCP · 2023Article
- Hereditary Women's Cancer: Management and Risk-Reducing Surgery.Medicina (Kaunas, Lithuania) · 2023Review
- Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.PloS one · 2023Article
- Evaluation of family history in individuals with heterozygous BRCA pathogenic variants diagnosed with breast or ovarian cancer in a single center in Italy.Molecular genetics & genomic medicine · 2022Article
- A BRCA1 Splice Site Variant Responsible for Familial Ovarian Cancer in a Han-Chinese Family.Current medical science · 2022Article
- Genetic, clinic and histopathologic characterization of BRCA-associated hereditary breast and ovarian cancer in southwestern Finland.Scientific reports · 2022Article
- Risk-Reducing Options for High-Grade Serous Gynecologic Malignancy in BRCA1/2.Current oncology (Toronto, Ont.) · 2022Review
- Real-World Data on Detection of Germline and Somatic Pathogenic/Likely Pathogenic Variants inCancers · 2022Article
- Review
- Recurrent Mutations inCancers · 2021Article
- Association of gBRCA1/2 mutation locations with ovarian cancer risk in Japanese patients from the CHARLOTTE study.Cancer science · 2020Article
- Prevalence ofGeburtshilfe und Frauenheilkunde · 2020Article
- Breast cancer in six families from Tolima and Huila: BRCA1 3450del4 mutationBiomedica : revista del Instituto Nacional de Salud · 2020Article
- Association between family history, mutation locations, and prevalence of BRCA1 or 2 mutations in ovarian cancer patients.Cancer medicine · 2019Article
- Comparison of Survival Outcomes According toIn vivo (Athens, Greece)Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We investigated the prevalence of germline BRCA mutations in a population-based cohort of Austrian women diagnosed with ovarian cancer and its association with family history of cancer. We prospectively collected family pedigrees of 443 Austrian ovarian cancer patients who had been tested for the presence of a germline BRCA or 2 mutations and correlated the familial breast and ovarian cancer burden with the prevalence of BRCA mutations and disease onset. The probability of carrying a gBRCA mutation in patients without family history of cancer is 14% (95% CI 9%-22%), as opposed to 45% (95% CI 31%-59%) of patients with at least one family member with ovarian cancer, and 47% (95% CI 40%-54%) if other relatives have developed breast cancer. If both breast and ovarian cancer are diagnosed in the family, the probability of carrying a germline BRCA1 or 2 mutations is 60% (95% CI 50%-68%). germline BRCA1 or mutations in families with ovarian cancer only are commonly located in the Ovarian Cancer Cluster Regions when compared to families with both breast and ovarian cancer (P = 0.001, and P = 0.020, respectively). While gBRCA mutation carriers with ovarian cancer do not have a significantly different age at onset than patients with a family history of cancer, gBRCA1 carriers in general have an earlier onset than gBRCA2 carriers (P = 0.002) and patients without a mutation (P = 0.006). The rate of germline BRCA1 or 2 mutations in ovarian cancer patients without a family history or breast or ovarian cancer is low. However, in women with additional family members affected, the prevalence is considerably higher than previously reported.
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