Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
BRCA
BRCA1
BRCA2
CAGI
CAGI5
variant interpretation
Journal
Human mutation
ISSN: 1098-1004
Titre abrégé: Hum Mutat
Pays: United States
ID NLM: 9215429
Informations de publication
Date de publication:
09 2019
09 2019
Historique:
received:
01
02
2019
revised:
01
07
2019
accepted:
02
07
2019
pubmed:
12
7
2019
medline:
14
3
2020
entrez:
12
7
2019
Statut:
ppublish
Résumé
Testing for variation in BRCA1 and BRCA2 (commonly referred to as BRCA1/2), has emerged as a standard clinical practice and is helping countless women better understand and manage their heritable risk of breast and ovarian cancer. Yet the increased rate of BRCA1/2 testing has led to an increasing number of Variants of Uncertain Significance (VUS), and the rate of VUS discovery currently outpaces the rate of clinical variant interpretation. Computational prediction is a key component of the variant interpretation pipeline. In the CAGI5 ENIGMA Challenge, six prediction teams submitted predictions on 326 newly-interpreted variants from the ENIGMA Consortium. By evaluating these predictions against the new interpretations, we have gained a number of insights on the state of the art of variant prediction and specific steps to further advance this state of the art.
Identifiants
pubmed: 31294896
doi: 10.1002/humu.23861
pmc: PMC6744348
mid: NIHMS1040976
doi:
Substances chimiques
BRCA1 Protein
0
BRCA1 protein, human
0
BRCA2 Protein
0
BRCA2 protein, human
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1546-1556Subventions
Organisme : NHGRI NIH HHS
ID : U54HG007990
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM079656
Pays : United States
Organisme : NIH HHS
ID : NIH R35GM124952
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM066099
Pays : United States
Organisme : NIH HHS
ID : NIH U41 HG007346
Pays : United States
Organisme : NIGMS NIH HHS
ID : NIH-GM066099
Pays : United States
Organisme : NHGRI NIH HHS
ID : P41 HG002371
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG061105
Pays : United States
Organisme : NIGMS NIH HHS
ID : R35 GM124952
Pays : United States
Organisme : NIH National Institute on Aging
ID : R01-AG061105
Pays : International
Organisme : NHGRI NIH HHS
ID : R13 HG006650
Pays : United States
Organisme : NHGRI NIH HHS
ID : U41 HG007346
Pays : United States
Organisme : NIGMS NIH HHS
ID : NIH-GM079656
Pays : United States
Organisme : NHGRI NIH HHS
ID : U54 HG007990
Pays : United States
Organisme : NIH HHS
ID : NIH R13 HG006650
Pays : United States
Organisme : Newcastle University; NMHRC Senior Research Fellowship
ID : ID 1061778
Pays : International
Informations de copyright
© 2019 Wiley Periodicals, Inc.
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