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Title of Journal: Breast Cancer Res Treat

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Abbravation: Breast Cancer Research and Treatment

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Springer US

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DOI

10.1007/bf00560382

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ISSN

1573-7217

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Double heterozygotes among breast cancer patients

Authors: 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
Publish Date: 2014/05/07
Volume: 145, Issue: 2, Pages: 553-562
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Abstract

17 double heterozygous DH breast cancer BC patients were identified upon the analysis of 5391 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 nonbreast tumor was documented in two BRCA1/BLM DH patients ovarian cancer and lymphoplasmacytic lymphoma Lossofheterozygosity LOH analysis of involved genes was performed in 5 tumors and revealed a single instance of somatic loss of the wildtype 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 BCpredisposing germline mutations are reviewedThis work has been supported by the Russian Foundation for Basic Research grants 120431567 130492613 140400411 the German Research Foundation Do 761/71 the State Committee for Scientific Research Poland grant PBZ KBN 122/P05/2004 the Dynasty Foundation contract 18/13 and the President’s Research Council for Support of Young Russian Scientists fellowships 76820124 and 79020124

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