BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
نویسندگان
چکیده
منابع مشابه
BRCA1 and BRCA2 Unclassified Variants and Missense Polymorphisms in Algerian Breast/Ovarian Cancer Families
BACKGROUND BRCA1 and BRCA2 germline mutations predispose heterozygous carriers to hereditary breast/ovarian cancer. However, unclassified variants (UVs) (variants with unknown clinical significance) and missense polymorphisms in BRCA1 and BRCA2 genes pose a problem in genetic counseling, as their impact on risk of breast and ovarian cancer is still unclear. The objective of our study was to ide...
متن کاملsequence variants of brca1 and brca2 genes in four iranian families with breast and ovarian cancer
background: brca1 and brca2 genes have been recognized to be responsible for 20-30% of hereditary breast cancers and approximately 50% of familial breast and ovarian cancers. therefore, the demand for brca1 and brca2 mutation screening is rapidly increasing as their identification will affect medical management of people at increased risk. because of high costs involved in analysis of brca1 a...
متن کاملRare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.
The susceptibility gene for ataxia telangiectasia, ATM, is also an intermediate-risk breast-cancer-susceptibility gene. However, the spectrum and frequency distribution of ATM mutations that confer increased risk of breast cancer have been controversial. To assess the contribution of rare variants in this gene to risk of breast cancer, we pooled data from seven published ATM case-control mutati...
متن کاملMissense polymorphisms in BRCA1 and BRCA2 and risk of breast and ovarian cancer.
PURPOSE BRCA1 and BRCA2 are key tumor suppressors with a role in cellular DNA repair, genomic stability, and checkpoint control. Mutations in BRCA1 and BRCA2 often cause hereditary breast and ovarian cancer; however, missense polymorphisms in these genes pose a problem in genetic counseling, as their impact on risk of breast and ovarian cancer is unclear. EXPERIMENTAL DESIGN We resequenced BR...
متن کاملGenetic diagnosis of cancer: diagnosis of mutations in BRCA1 and BRCA2 in breast cancer
During the last two decays the tremendous success in molecular biology and genetics which has surprised the entire world. So that today the sequencing of whole genome has been possible for each human individual to estimate its being affected with cardiovascular and cancer diseases. However, these achievements have some important limitations and deep ethical issues which might be ignored. Geneti...
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ژورنال
عنوان ژورنال: Cancer Research
سال: 2017
ISSN: 0008-5472,1538-7445
DOI: 10.1158/0008-5472.can-16-2568