Snežana Hinić, Cezary Cybulski, Rachel S Van der Post, Janet R Vos, Janneke Schuurs-Hoeijmakers, Fulvia Brugnoletti, Saskia Koene, Lilian Vreede, Wendy A G van Zelst-Stams, C Marleen Kets, Maaike Haadsma, Liesbeth Spruijt, Marijke R Wevers, D Gareth Evans, Katharina Wimmer, Simon Schnaiter, Alexander E Volk, Anna Möllring, Robin de Putter, Leila Soikkonen, Tiina Kahre, Mikk Tooming, Mirjam M de Jong, Fátima Vaz, Arjen R Mensenkamp, Maurizio Genuardi, Jan Lubinski, Marjolijn Ligtenberg, Nicoline Hoogerbrugge, Richarda M de Voer
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 three individuals with the CHEK2 (NM_007194.4) c.1100del p.(Thr367MetfsTer15) loss-of-function gPV in a biallelic state...
February 12, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics