A novel CHEK2 variant identified by next generation sequencing in an Indian family with hereditary breast cancer syndrome.
Breast cancer
CHEK2
Next generation sequencing
Journal
Cancer genetics
ISSN: 2210-7762
Titre abrégé: Cancer Genet
Pays: United States
ID NLM: 101539150
Informations de publication
Date de publication:
06 2019
06 2019
Historique:
received:
11
11
2018
revised:
01
04
2019
accepted:
29
05
2019
entrez:
13
7
2019
pubmed:
13
7
2019
medline:
7
3
2020
Statut:
ppublish
Résumé
Genetic variations in CHEK2 (checkpoint kinase 2) gene have been associated with hereditary predisposition to various cancers including breast and ovarian cancer. CHEK2 tumor suppressor gene encodes for a checkpoint kinase that responds to breaks in DNA, regulates DNA repair and cellular proliferation. We report a BRCA negative family with multiple affected women having breast cancer, with a novel, missense, likely pathogenic variant in the CHEK2 gene (c.1376T>G; p.Ile459Ser) that segregated with subjects with breast cancer. This case provides insight into the role of the CHEK2 gene in causing breast cancer susceptibility in families and supports the use of multigene panel testing in cases with hereditary predisposition to breast cancer.
Identifiants
pubmed: 31296309
pii: S2210-7762(18)30486-1
doi: 10.1016/j.cancergen.2019.05.003
pii:
doi:
Substances chimiques
Checkpoint Kinase 2
EC 2.7.1.11
CHEK2 protein, human
EC 2.7.11.1
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
13-17Informations de copyright
Copyright © 2019 Elsevier Inc. All rights reserved.