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Association between family history, mutation locations, and prevalence of BRCA1 or 2 mutations in ovarian cancer patients.
Singer, Christian F; Tan, Yen Y; Muhr, Daniela; Rappaport, Christine; Gschwantler-Kaulich, Daphne; Grimm, Christoph; Polterauer, Stephan; Pfeiler, Georg; Berger, Andreas; Tea, Muy-Kheng M.
Afiliación
  • Singer CF; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
  • Tan YY; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
  • Muhr D; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
  • Rappaport C; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
  • Gschwantler-Kaulich D; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
  • Grimm C; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
  • Polterauer S; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
  • Pfeiler G; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
  • Berger A; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
  • Tea MM; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Cancer Med ; 8(4): 1875-1881, 2019 04.
Article en En | MEDLINE | ID: mdl-30821131
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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Ováricas / Mutación de Línea Germinal / Proteína BRCA1 / Proteína BRCA2 Tipo de estudio: Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Middle aged Idioma: En Revista: Cancer Med Año: 2019 Tipo del documento: Article País de afiliación: Austria

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Ováricas / Mutación de Línea Germinal / Proteína BRCA1 / Proteína BRCA2 Tipo de estudio: Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Middle aged Idioma: En Revista: Cancer Med Año: 2019 Tipo del documento: Article País de afiliación: Austria