Large family with both parents affected by distinct BRCA1 mutations: implications for genetic testing.
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.
Sokolenko
Anna P
AP
NN Petrov Institute of Oncology, St,-Petersburg, Russia. annasokolenko@mail.ru
Voskresenskiy
Dmitry A
DA
Iyevleva
Aglaya G
AG
Bit-Sava
Elena M
EM
Gutkina
Nadezhda I
NI
Anisimenko
Maxim S
MS
Yu Sherina
Nathalia
N
Mitiushkina
Nathalia V
NV
Ulibina
Yulia M
YM
Yatsuk
Olga S
OS
Zaitseva
Olga A
OA
Suspitsin
Evgeny N
EN
Togo
Alexandr V
AV
Pospelov
Valery A
VA
Kovalenko
Sergey P
SP
Semiglazov
Vladimir F
VF
Imyanitov
Evgeny N
EN