Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories
نویسندگان
چکیده
منابع مشابه
Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories.
BACKGROUND Genetic tests of the cancer predisposition genes BRCA1 and BRCA2 inform significant clinical decisions for both physicians and patients. Most uncovered variants are benign, and determining which few are pathogenic (disease-causing) is sometimes challenging and can potentially be inconsistent among laboratories. The ClinVar database makes de-identified clinical variant classifications...
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Accurate risk assessment for hereditary breast and ovarian cancer (HBOC) is dependent on clinical expertise and the models available to evaluate an individual’s risk. These models depend heavily, if not exclusively, on estimates of mutation prevalence in individuals presenting with various personal and family histories of cancer. In order to assess the BRCA1 and BRCA2 mutation prevalence in ind...
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But isn't inherited breast cancer quite rare? Well of course most breast cancers aren’t hereditary. Inherited predisposition accounts for about 5% of all breast cancers — mutations in BRCA1 and BRCA2 probably cause a significant proportion of these. So BRCA mutation doesn’t cause a high fraction of all breast cancers, but, because this disease is so common (about 1 in 10 lifetime risk), it adds...
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Individuals who carry an inherited mutation in the breast cancer 1 (BRCA1) and BRCA2 genes have a significant risk of developing breast and ovarian cancer over the course of their lifetime. As a result, there are important considerations for the clinician in the counseling, followup and management of mutation carriers. This review outlines salient aspects in the approach to patients at high ris...
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BACKGROUND Current estimates of the contribution of large rearrangement (LR) mutations in the BRCA1 (breast cancer 1, early onset) and BRCA2 (breast cancer 2, early onset) genes responsible for hereditary breast and ovarian cancer are based on limited studies of relatively homogeneous patient populations. The prevalence of BRCA1/2 LRs was investigated in 48,456 patients with diverse clinical hi...
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ژورنال
عنوان ژورنال: JCO Precision Oncology
سال: 2017
ISSN: 2473-4284
DOI: 10.1200/po.16.00020