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Case Reports
. 2023 Jan 11;11(1):e6820.
doi: 10.1002/ccr3.6820. eCollection 2023 Jan.

A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer

Tahereh Soleimani  1 , Corrie Bourdon  2 , Jacquelyn Davis  3 , Thais Fortes  2
Affiliations
Case Reports

A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer

Tahereh Soleimani et al. Clin Case Rep. .

Abstract

Pathogenic germline variants in the CHEK2 gene have been shown to cause a moderate increased risk of breast cancer. Here, we present a striking CHEK2 family with a biallelic carrier of two frameshift pathogenic variants, to draw attention and to encourage a comprehensive genetic and cancer risk education for biallelic carriers of CHEK2 pathogenic variants.

Keywords: CHEK2; biallelic; breast cancer; checkpoint kinase 2; familial; genetic; heterozygous.

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Conflict of interest statement

The authors have no conflicts of interest to declare.

Figures

FIGURE 1
FIGURE 1
Family pedigree. Proband is marked with arrow head.
See this image and copyright information in PMC

References

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