Case - Large Family with Both Parents Affected by Distinct BRCA1 Mutations: Implications for Genetic Testing

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Large Family with Both Parents Affected by Distinct BRCA1 Mutations: Implications for Genetic Testing

Presented by:	Hereditary Cancer in Clinical Practice / Anna P Sokolenko, Dmitry A Voskresenskiy, Aglaya G Iyevleva, Elena M Bit-Sava, Nadezhda I Gutkina, Maxim S Anisimenko, Nathalia Yu Sherina, Nathalia V Mitiushkina, Yulia M Ulibina, Olga S Yatsuk, Olga A Zaitseva, Evgeny N Suspitsin, Alexandr V Togo, Valery A Pospelov, Sergey P Kovalenko, Vladimir F Semiglazov and Evgeny N Imyanitov
Summary points:	Here, the authors present a large breast-ovarian cancer family, where 3 sisters and 1 half-sister inherited maternal BRCA1 5382insC mutation while the remaining 2 sisters carried paternal BRCA1 1629delC allele. This report demonstrates that identifying a single cancer-predisposing mutation within the index patient may not be sufficient in some circumstances. Ideally, all family members affected by breast or ovarian tumours would undergo DNA testing, and failure to detect the mutation in any of them calls for the search of the second cancer-associated allele.
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