Clinical impact of ENIGMA-based variant reclassification on genotype–phenotype analyses in BRCA1- and BRCA2-associated hereditary breast and ovarian cancer

This publication has 19 references indexed in Scilit:

• Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system
  Genetics in Medicine Open, 2025
• Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
  The American Journal of Human Genetics, 2024
• Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2
  British Journal of Cancer, 2023
• Racial and ethnic variation in BRCA1 and BRCA2 genetic test results among individuals referred for genetic counseling at a large urban comprehensive cancer center
  Cancer Causes & Control, 2022
• Germline variation in BRCA1/2 is highly ethnic‐specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients
  International Journal of Cancer, 2019
• Mutational spectrum in a worldwide study of 29,700 families withBRCA1orBRCA2mutations
  Human Mutation, 2018
• Breast cancer detection and tumor characteristics in BRCA1 and BRCA2 mutation carriers
  Breast Cancer Research and Treatment, 2017
• Association of Type and Location ofBRCA1andBRCA2Mutations With Risk of Breast and Ovarian Cancer
  JAMA, 2015
• Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
  Genetics in Medicine, 2015
• BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast‐ovarian cancer
  Cancer, 2009