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: Wojciech Klu źniak Dominika Woko łorczyk Bogna Rusak Tomasz Huzarski Aniruddh Kashyap Klaudia Stempa Helena Rudnicka Anna Jakubowska Marek Szwiec Sylwia Morawska Katarzyna Gliniewicz Karina Mordak Ma łgorzata Stawicka Joanna Jarkiewicz-Tretyn Magdalena Tags: Article Source Type: research