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Breast Cancer Phenotype Associated With Li-Fraumeni Syndrome: A Brazilian Cohort Enriched by TP53 p.R337H Carriers

16 Mar 2022

Abstract excerpt

Breast cancer (BC) is the most prevalent malignancy in women with Li-Fraumeni syndrome (LFS). The literature on BC in LFS is limited due to its rarity worldwide. A TP53 founder pathogenic variant (c.1010G>A; p.R337H) is responsible for the higher prevalence of this syndrome among women of Brazilian ancestry. Purpose The aim of the study was to describe the BC phenotype expressed by Brazilian female LFS carriers...

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Identifiers

PMID: 35371985
DOI: 10.3389/fonc.2022.836937

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