Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models-Reference-Cited by-同舟云学术

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Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models

Published:2019-01 Issue:1 Volume:21 Page:71-80
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Hart Steven N.,Hoskin Tanya,Shimelis Hermela,Moore Raymond M.,Feng Bingjian,Thomas Abigail,Lindor Noralane M.,Polley Eric C.,Goldgar David E.,Iversen Edwin,Monteiro Alvaro N.A.,Suman Vera J.,Couch Fergus J.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

https://www.nature.com/articles/s41436-018-0018-4.pdf

Reference36 articles.

Cited by 53 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. DSS1 restrains BRCA2’s engagement with dsDNA for homologous recombination, replication fork protection, and R-loop homeostasis;Nature Communications;2024-08-17

2. Classification of Variants of Reduced Penetrance in High Penetrance Cancer Susceptibility Genes: Framework for Genetics Clinicians and Clinical Scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK);2024-07-19

3. Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain;The American Journal of Human Genetics;2024-03

4. Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus on BRCA negative Tunisian cancer families;Frontiers in Genetics;2024-01-19

5. AVENGERS: Analysis of Variant Effects using Next Generation sequencing to EnhanceBRCA2Stratification;2023-12-15

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