Academic Journal
Inherited Variants in BLM and the Risk and Clinical Characteristics of Breast Cancer
| العنوان: | Inherited Variants in BLM and the Risk and Clinical Characteristics of Breast Cancer |
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| المؤلفون: | 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 |
| بيانات النشر: | University of Toronto |
| سنة النشر: | 2019 |
| المجموعة: | University of Toronto: Research Repository T-Space |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | unknown |
| Relation: | Cancers 11 (10): 1548 (2019); http://hdl.handle.net/1807/96934; https://doi.org/10.3390/cancers11101548 |
| DOI: | 10.3390/cancers11101548 |
| الاتاحة: | http://hdl.handle.net/1807/96934 https://doi.org/10.3390/cancers11101548 |
| Rights: | Attribution 4.0 International ; https://creativecommons.org/licenses/by/4.0/ |
| رقم الانضمام: | edsbas.98843B31 |
| قاعدة البيانات: | BASE |
| DOI: | 10.3390/cancers11101548 |
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