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Kluźniak, Wojciech; Wokołorczyk, Dominika; Rusak, Bogna; Huzarski, Tomasz; Kashyap, Aniruddh; Stempa, Klaudia; Rudnicka, Helena; Jakubowska, Anna; Szwiec, Marek; Morawska, Sylwia; Gliniewicz, Katarzyna; Mordak, Karina; Stawicka, Małgorzata; Jarkiewicz-Tretyn, Joanna; Cechowska, Magdalena; Domagała, Paweł; Dębniak, Tadeusz; Lener, Marcin; Gronwald, Jacek; Lubiński, Jan; Narod, Steven A.; Akbari, Mohammad R.; Cybulski, Cezary
Cancers, 10/2019, Letnik: 11, Številka: 10Journal Article
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 the BLM mutation carriers. No cancer type was more common in the relatives of mutation carriers compared to relatives of non-carriers. The BLM founder mutation p.Gln548Ter, which in a homozygous state is a cause of Bloom syndrome, does not appear to predispose to breast cancer in a heterozygous state. The finding casts doubt on the designation of BLM as an autosomal dominant breast cancer susceptibility gene.
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