Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel-Reference-Cited by-同舟云学术

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

Published:2024-09 Issue:9 Volume:111 Page:2044-2058
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Parsons Michael T.,de la Hoya Miguel,Richardson Marcy E.,Tudini Emma,Anderson Michael,Berkofsky-Fessler Windy,Caputo Sandrine M.,Chan Raymond C.,Cline Melissa S.,Feng Bing-Jian,Fortuno Cristina,Gomez-Garcia Encarna,Hadler Johanna,Hiraki Susan,Holdren Megan,Houdayer Claude,Hruska Kathleen,James Paul,Karam Rachid,Leong Huei San,Martins Alexandra,Mensenkamp Arjen R.,Monteiro Alvaro N.,Nathan Vaishnavi,O'Connor Robert,Pedersen Inge Sokilde,Pesaran Tina,Radice Paolo,Schmidt Gunnar,Southey Melissa,Tavtigian Sean,Thompson Bryony A.,Toland Amanda E.,Turnbull Clare,Vogel Maartje J.,Weyandt Jamie,Wiggins George A.R.,Zec Lauren,Couch Fergus J.,Walker Logan C.,Vreeswijk Maaike P.G.,Goldgar David E.,Spurdle Amanda B.^ORCID

Publisher

Elsevier BV

Reference32 articles.

1. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1;Miki;Science,1994

2. Identification of the breast cancer susceptibility gene BRCA2;Wooster;Nature,1995

3. ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes;Spurdle;Hum. Mutat.,2012

4. Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach;Caputo;Am. J. Hum. Genet.,2021

5. Genetic evidence and integration of various data sources for classifying uncertain variants into a single model;Goldgar;Hum. Mutat.,2008

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes;The American Journal of Human Genetics;2024-09