Cancers, Vol. 11, Pages 1548: Inherited Variants in BLM and the Risk and Clinical Characteristics of Breast Cancer

Cancers, Vol. 11, Pages 1548: Inherited Variants in BLM and the Risk and Clinical Characteristics of Breast Cancer Cancers doi: 10.3390/cancers11101548 Authors: Wojciech Kluźniak Dominika Wokołorczyk Bogna Rusak Tomasz Huzarski Aniruddh Kashyap Klaudia Stempa Helena Rudnicka Anna Jakubowska Marek Szwiec Sylwia Morawska Katarzyna Gliniewicz Karina Mordak Małgorzata Stawicka Joanna Jarkiewicz-Tretyn Magdalena Cechowska Paweł Domagała Tadeusz Dębniak Marcin Lener Jacek Gronwald Jan Lubiński Steven A. Narod Mohammad R. Akbari Cezary Cybulski Bloom Syndrome is a rare recessive disease which includes a susceptibility to various cancers. It is caused by homozygous mutations of the BLM gene. To investigate whether heterozygous carriers of a BLM mutation are predisposed to breast cancer, we sequenced BLM in 617 patients from Polish families with a strong family history of breast cancer. We detected a founder mutation (c.1642C>T, p.Gln548Ter) in 3 of the 617 breast cancer patients (0.49%) who were sequenced. Then, we genotyped 14,804 unselected breast cancer cases and 4698 cancer-free women for the founder mutation. It was identified in 82 of 14,804 (0.55%) unselected cases and in 26 of 4698 (0.55%) controls (OR = 1.0; 95%CI 0.6–1.6). Clinical characteristics of breast cancers in the BLM mutation carriers and non-carriers were similar. Loss of the wild-type BLM allele was not detected in cancers from th...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research