A Multiplex Homology-Directed DNA Repair Assay Reveals the Impact of More Than 1,000 BRCA1 Missense Substitution Variants on Protein Function-Reference-Cited by-同舟云学术

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A Multiplex Homology-Directed DNA Repair Assay Reveals the Impact of More Than 1,000 BRCA1 Missense Substitution Variants on Protein Function

Published:2018-10 Issue:4 Volume:103 Page:498-508
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Starita Lea M.,Islam Muhtadi M.,Banerjee Tapahsama,Adamovich Aleksandra I.,Gullingsrud Justin,Fields Stanley,Shendure Jay,Parvin Jeffrey D.

Funder

National Institutes of Health

Basser Center for BRCA

Pelotonia

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference34 articles.

1. Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: Variant reclassification and surgical decisions;Murray;Genet. Med.,2011

2. Clinical decision-making in patients with variant of uncertain significance in BRCA1 or BRCA2 genes;Welsh;Ann. Surg. Oncol.,2017

3. ClinVar: Public archive of relationships among sequence variation and human phenotype;Landrum;Nucleic Acids Res.,2014

4. Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance;Chenevix-Trench;Cancer Res.,2006

5. Characterization of BRCA1 ring finger variants of uncertain significance;Sweet;Breast Cancer Res. Treat.,2010

Cited by 93 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. SIGMA leverages protein structural information to predict the pathogenicity of missense variants;Cell Reports Methods;2024-01

2. Multiplexed assay of variant effect reveals residues of functional importance in the BRCA1 coiled-coil and serine cluster domains;PLOS ONE;2023-11-02

3. Deep mutational scanning of proteins in mammalian cells;Cell Reports Methods;2023-11

4. piggyBac-mediated genomic integration of linear dsDNA-based library for deep mutational scanning in mammalian cells;Cellular and Molecular Life Sciences;2023-10-10

5. Crucial roles of the BRCA1-BARD1 E3 ubiquitin ligase activity in homology-directed DNA repair;Molecular Cell;2023-10

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