Hereditary Cancer in Clinical Practice (Jan 2009)

Large family with both parents affected by distinct BRCA1 mutations: implications for genetic testing

  • Sokolenko Anna P,
  • Voskresenskiy Dmitry A,
  • Iyevleva Aglaya G,
  • Bit-Sava Elena M,
  • Gutkina Nadezhda I,
  • Anisimenko Maxim S,
  • Yu Sherina Nathalia,
  • Mitiushkina Nathalia V,
  • Ulibina Yulia M,
  • Yatsuk Olga S,
  • Zaitseva Olga A,
  • Suspitsin Evgeny N,
  • Togo Alexandr V,
  • Pospelov Valery A,
  • Kovalenko Sergey P,
  • Semiglazov Vladimir F,
  • Imyanitov Evgeny N

DOI
https://doi.org/10.1186/1897-4287-7-2
Journal volume & issue
Vol. 7, no. 1
p. 2

Abstract

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Abstract Although the probability of both parents being affected by BRCA1 mutations is not negligible, such families have not been systematically described in the literature. Here we 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. No BRCA1 homozygous mutations has been detected, that is consistent with the data on lethality of BRCA1 knockout mice. This report exemplifies that the identification of 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 tumor disease have to be subjected to the DNA testing, and failure to detect the mutation in any of them calls for the search of the second cancer-associated allele.