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Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability? - European Journal of Human Genetics

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Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability? - European Journal of Human Genetics

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.

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Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability? - European Journal of Human Genetics

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Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability? - European Journal of Human Genetics

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Unlocking the Power of Knowledge
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for Humanity's Progress