The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2

Hinić, Snežana; Cybulski, Cezary; S. van der Post, Rachel; R. Vos, Janet; Schuurs-Hoeijmakers, Janneke; Brugnoletti, Fulvia; Koene, Saskia; Vreede, Lilian; A.G. van Zelst–Stams, Wendy; Marleen Kets, C.; Haadsma, Maaike; Spruijt, Liesbeth; R. Wevers, Marijke; Gareth Evans, D.; Wimmer, Katharina; Schnaiter, Simon; E. Volk, Alexander; Möllring, Anna; De Putter, Robin; Soikkonen, Leila; Kahre, Tiina; Tooming, Mikk; M. de Jong, Mirjam; Vaz, Fátima; R. Mensenkamp, Arjen; Genuardi, Maurizio; Lubiński, Jan; J. L. Ligtenberg, Marjolijn; Hoogerbrugge, Nicoline; M. de Voer, Richarda

doi:10.1016/j.gim.2024.101101

Public

The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2

Published in Genetics in Medicine • Feb 13, 2024

Authors:

Snežana Hinić

Cezary Cybulski

Rachel S. van der Post

Abstract

PURPOSE: Females with biallelic CHEK2 germline pathogenic variants (gPVs) more often develop multiple breast cancers than individuals with monoallelic CHEK2 gPVs. This study is aimed at expanding the knowledge on the occurrence of other malignancies. METHODS: Exome sequencing of individuals who deve...

Subject

CHEK2

Malignancy

Breast cancer

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