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Molecular testing for the BRCA1 and BRCA2 Ashkenazi Jewish founder mutations: a report on the College of American Pathologists proficiency testing surveys.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2015

Tafe Laura J, Datto Michael B, Palomaki Glenn E, Lacbawan Felicitas L

Abstract excerpt

PURPOSE: The purpose of this study was to analyze laboratory performance on proficiency testing surveys offered jointly by the College of American Pathologists/American College of Medical Genetics and Genomics biannually for the three common Ashkenazi Jewish founder mutations in the BRCA1 and BRCA2 genes. METHODS: Survey responses were analyzed for accuracy of genotype determination and the associated clinical...

Topics

Founder Effect
Genes, BRCA1
Genes, BRCA2
Genetic Testing
Genotype
Health Care Surveys
Humans
Jews
Laboratory Proficiency Testing
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Reproducibility of Results

Sensitivity and Specificity

Source

Identifiers

PMID: 24946157
DOI: 10.1038/gim.2014.77

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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