Article
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
European journal of human genetics : EJHG - 1 Apr 2023
Bottillo Irene, Savino Emanuele, Majore Silvia, Mulargia Claudia, Valiante Michele, Ferraris Alessandro, Rossi Valentina, Svegliati Francesca, Ciccone Maria Pia, Brusco Francesca, Grammatico Barbara, Di Giacomo Gianluca, Bargiacchi Simone, D'Angelantonio Daniela, Grammatico Paola
Abstract excerpt
Constitutional heterozygous mutations in CHEK2 gene have been associated with hereditary cancer risk. To date, only a few homozygous CHEK2 mutations have been reported in families with cancer susceptibility. Here, we report two unrelated individuals with a personal and familial cancer history in whom biallelic CHEK2 alterations were identified. The first case resulted homozygous for the CHEK2 c.793-1 G > A...
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