CHEK2 - Oct 2021

Project title:
The multiple primary cancer phenotype of individuals with a biallelic pathogenic variant in CHEK2

Project leader:
Dr. Richarda de Voer and Prof. Nicoline Hoogerbrugge, Radboudumc, Nijmegen, Netherlands

Project Description:
CHEK2 is considered a moderate risk breast cancer gene and women who are carriers for pathogenic variants are at higher risk of developing breast cancer (BC). Besides BC, studies have reported other cancer types in patients who carried CHEK2 biallelic pathogenic variants, such as ovarian, uterine, endometrial, colorectal (CRC), pancreatic, prostate and renal cancer, as well as melanoma and leukaemia. In this study we aim to elucidate if CHEK2-deficiency predisposes to a multi-tumor phenotype beyond breast cancer.

8 ERN GENTURIS centres have contributed already.

Start date: October 2021

Duration: 1.5 years

Funder: Dutch Cancer Society (KWF)