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01.06.2014 | Brief Report

Double heterozygotes among breast cancer patients analyzed for BRCA1, CHEK2, ATM, NBN/NBS1, and BLM germ-line mutations

verfasst von: Anna P. Sokolenko, Natalia Bogdanova, Wojciech Kluzniak, Elena V. Preobrazhenskaya, Ekatherina S. Kuligina, Aglaya G. Iyevleva, Svetlana N. Aleksakhina, Natalia V. Mitiushkina, Tatiana V. Gorodnova, Alexandr A. Bessonov, Alexandr V. Togo, Jan Lubiński, Cezary Cybulski, Anna Jakubowska, Thilo Dörk, Evgeny N. Imyanitov

Erschienen in: Breast Cancer Research and Treatment | Ausgabe 2/2014

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Abstract

17 double heterozygous (DH) breast cancer (BC) patients were identified upon the analysis of 5,391 affected women for recurrent Slavic mutations in BRCA1, CHEK2, NBN/NBS1, ATM, and BLM genes. Double heterozygosity was found for BRCA1 and BLM (4 patients), BRCA1 and CHEK2 (4 patients), CHEK2 and NBS1 (3 patients), BRCA1 and ATM (2 patients), CHEK2 and BLM (2 patients), CHEK2 and ATM (1 patient), and NBS1 and BLM (1 patient). DH BC patients were on average not younger than single mutation carriers and did not have an excess of bilateral BC; an additional non-breast tumor was documented in two BRCA1/BLM DH patients (ovarian cancer and lymphoplasmacytic lymphoma). Loss-of-heterozygosity (LOH) analysis of involved genes was performed in 5 tumors, and revealed a single instance of somatic loss of the wild-type allele (LOH at CHEK2 locus in BRCA1/CHEK2 double heterozygote). Distribution of mutations in patients and controls favors the hypothesis on multiplicative interaction between at least some of the analyzed genes. Other studies on double heterozygosity for BC-predisposing germ-line mutations are reviewed.

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Titel: Double heterozygotes among breast cancer patients analyzed for BRCA1, CHEK2, ATM, NBN/NBS1, and BLM germ-line mutations
verfasst von: Anna P. Sokolenko
Natalia Bogdanova
Wojciech Kluzniak
Elena V. Preobrazhenskaya
Ekatherina S. Kuligina
Aglaya G. Iyevleva
Svetlana N. Aleksakhina
Natalia V. Mitiushkina
Tatiana V. Gorodnova
Alexandr A. Bessonov
Alexandr V. Togo
Jan Lubiński
Cezary Cybulski
Anna Jakubowska
Thilo Dörk
Evgeny N. Imyanitov
Publikationsdatum: 01.06.2014
Verlag: Springer US
Erschienen in: Breast Cancer Research and Treatment / Ausgabe 2/2014
Print ISSN: 0167-6806
Elektronische ISSN: 1573-7217
DOI: https://doi.org/10.1007/s10549-014-2971-1

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