Article
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2024
Hinić Snežana, Cybulski Cezary, Van der Post Rachel S, Vos Janet R, Schuurs-Hoeijmakers Janneke, Brugnoletti Fulvia, Koene Saskia, Vreede Lilian, van Zelst-Stams Wendy A G, Kets C Marleen, Haadsma Maaike, Spruijt Liesbeth, Wevers Marijke R, Evans D Gareth, Wimmer Katharina, Schnaiter Simon, Volk Alexander E, Möllring Anna, de Putter Robin, Soikkonen Leila, Kahre Tiina, Tooming Mikk, de Jong Mirjam M, Vaz Fátima, Mensenkamp Arjen R, Genuardi Maurizio, Lubinski Jan, Ligtenberg Marjolijn, Hoogerbrugge Nicoline, de Voer Richarda M
Abstract excerpt
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 developed multiple primary malignancies identified 3 individuals with the CHEK2 (NM_007194.4) c.1100del...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.