Abstract
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.
Keywords
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Article info
Publication history
Published online: May 31, 2019
Accepted:
May 29,
2019
Received in revised form:
April 1,
2019
Received:
November 11,
2018
Footnotes
Novel Insight brought forward by this case report.
This case has identified a novel variant in the CHEK2 gene in an Asian Indian family with hereditary breast cancer. Next-generation sequencing identified three novel variants in three different breast cancer predisposition genes. We performed segregation studies of the three identified variants with several members of the family and performed in silico analysis to identify the family-specific variants associated with increased risk. The novel variant identified have contributed to knowledge of the molecular basis of this disorder.
Identification
Copyright
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