Article
Value of bilateral breast cancer for identification of rare recessive at-risk alleles: evidence for the role of homozygous GEN1 c.2515_2519delAAGTT mutation.
Familial cancer - 1 Mar 2013
Kuligina Ekatherina Sh, Sokolenko Anna P, Mitiushkina Nathalia V, Abysheva Svetlana N, Preobrazhenskaya Elena V, Gorodnova Tatiana V, Yanus Grigoriy A, Togo Alexandr V, Cherdyntseva Nadezhda V, Bekhtereva Svetlana A, Dixon J Michael, Larionov Alexey A, Kuznetsov Sergey G, Imyanitov Evgeny N
Abstract excerpt
Virtually all known tumor predisposing genes have been identified via the analysis of familial cancer cases. Here we argue that this approach is likely to miss recessively acting cancer genes and suggest the analysis of family history-negative patients with multiple primary malignancies for identifying homozygous at-risk genotypes. We performed calculations showing that the homozygous carriers of rare recessive...
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