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Open AccessArticle

Inherited Variants in BLM and the Risk and Clinical Characteristics of Breast Cancer

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International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland
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Department of Clinical Genetics and Pathology, University of Zielona Góra, 65-046 Zielona Góra, Poland
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Independent Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland
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Department of Surgery and Oncology, University of Zielona Góra, 65-046 Zielona Góra, Poland
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Cancer Genetics Laboratory, 87-100 Toruń, Poland
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Department of Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland
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Women’s College Research Institute, Women’s College Hospital, Toronto, M5S 1B2 ON, Canada
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Dalla Lana School of Public Health, University of Toronto, Toronto, M5T 3M7 ON, Canada
*
Author to whom correspondence should be addressed.
Cancers 2019, 11(10), 1548; https://doi.org/10.3390/cancers11101548
Received: 27 August 2019 / Revised: 2 October 2019 / Accepted: 10 October 2019 / Published: 13 October 2019
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. View Full-Text
Keywords: BLM; mutation; cancer; breast cancer; risk; hereditary; survival BLM; mutation; cancer; breast cancer; risk; hereditary; survival
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Kluźniak, W.; Wokołorczyk, D.; Rusak, B.; Huzarski, T.; Kashyap, A.; Stempa, K.; Rudnicka, H.; Jakubowska, A.; Szwiec, M.; Morawska, S.; Gliniewicz, K.; Mordak, K.; Stawicka, M.; Jarkiewicz-Tretyn, J.; Cechowska, M.; Domagała, P.; Dębniak, T.; Lener, M.; Gronwald, J.; Lubiński, J.; Narod, S.A.; Akbari, M.R.; Cybulski, C. Inherited Variants in BLM and the Risk and Clinical Characteristics of Breast Cancer. Cancers 2019, 11, 1548.

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