Clinical and genetic aspects of hereditary breast cancer

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Abstract

BRCA1 defects are known to be associated with hereditary breast cancer (BC). Here we screened the occurrence of BRCA1 5382insC mutation in 1001 BC patients and 822 non-affected females. BRCA1 5382insC carriership was detected by real-time allele-specific PCR. The utmost frequency of the 5382insC allele was observed in patients with 3 clinical features of hereditary BC (bilaterality, young onset (≤40 years), BC in mother). Unselected monolateral BC contained 3.7% BRCA1 5382insC carriers. The obtained data point at clinical utility of the BRCA1 5382insC genetic testing.

About the authors

V. F. Semiglazov

N.N. Petrov Institute of Oncology

Author for correspondence.
Email: shabanov@mail.rcom.ru

Член-корреспондент РАМН

Russian Federation, St. Petersburg

E. M. Bit-Sava

N.N. Petrov Institute of Oncology

Email: shabanov@mail.rcom.ru
Russian Federation, St. Petersburg

A. P. Sokolenko

N.N. Petrov Institute of Oncology

Email: shabanov@mail.rcom.ru
Russian Federation, St. Petersburg

E. N. Imyanitov

N.N. Petrov Institute of Oncology

Email: shabanov@mail.rcom.ru
Russian Federation, St. Petersburg

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