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

American Journal of Human Genetics

Volumn 103, Issue 4, 2018, Pages 498-508

  Starita, Lea M ^a,b   Islam, Muhtadi M ^c   Banerjee, Tapahsama ^c   Adamovich, Aleksandra I ^c   Gullingsrud, Justin ^a   Fields, Stanley ^a,d   Shendure, Jay ^a,b,d   Parvin, Jeffrey D ^c,e  

^a UNIVERSITY OF WASHINGTON   (United States)

^b BROTMAN BATY INSTITUTE FOR PRECISION MEDICINE   (United States)

^c OHIO STATE UNIVERSITY   (United States)

^d HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^e OHIO STATE UNIVERSITY   (United States)

Author keywords

BRCA1; DNA repair; missense variants; variants of uncertain significance; VUS

Indexed keywords

BRCA1 PROTEIN; DNA; BRCA1 PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; ARTICLE; BENCHMARKING; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; DNA BARCODING; DNA REPAIR; GENETIC ANALYSIS; GENETIC VARIABILITY; HELA CELL LINE; HOMOLOGY DIRECTED DNA REPAIR; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN FUNCTION; DOUBLE STRANDED DNA BREAK; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; NEOPLASM; PROCEDURES; TUMOR CELL LINE;

BRCA1 PROTEIN; CELL LINE, TUMOR; DNA; DNA BREAKS, DOUBLE-STRANDED; DNA REPAIR; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HELA CELLS; HUMANS; MUTATION, MISSENSE; NEOPLASMS;

EID: 85054429707     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2018.07.016     Document Type: Article

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