Article
Penetrance of Different Cancer Types in Families with Li-Fraumeni Syndrome: A Validation Study Using Multicenter Cohorts.
Cancer research - 15 Jan 2020
Shin Seung Jun, Dodd-Eaton Elissa B, Peng Gang, Bojadzieva Jasmina, Chen Jingxiao, Amos Christopher I, Frone Megan N, Khincha Payal P, Mai Phuong L, Savage Sharon A, Ballinger Mandy L, Thomas David M, Yuan Ying, Strong Louise C, Wang Wenyi
Abstract excerpt
Li-Fraumeni syndrome (LFS) is a rare hereditary cancer syndrome associated with an autosomal-dominant mutation inheritance in the TP53 tumor suppressor gene and a wide spectrum of cancer diagnoses. The previously developed R package, LFSPRO, is capable of estimating the risk of an individual being a TP53 mutation carrier. However, an accurate estimation of the penetrance of different cancer types in LFS is...
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