Ontology highlight
ABSTRACT:
SUBMITTER: Fang S
PROVIDER: S-EPMC6497528 | biostudies-literature | 2011 Dec
REPOSITORIES: biostudies-literature
Fang Shenying S Krahe Ralf R Bachinski Linda L LL Zhang Baili B Amos Christopher I CI Strong Louise C LC
Human genetics 20110619 6
Germline mutations in the tumor suppressor gene TP53 occur in the majority of families with Li-Fraumeni syndrome, who are at an increased risk for a wide spectrum of early onset cancers. Several genetic polymorphisms in TP53 modify its effect on cancer risk. While some studies indicate that the TP53 PIN3 deletion allele (D) accelerate tumor onset in carriers with TP53 germline mutations, other studies have shown that the TP53 PIN3 insertion allele (I) confers a significantly higher risk of devel ...[more]