The Brazilian TP53 mutation (R337H) and sarcomas

• Published in: PloS one Vol. 15; no. 1; p. e0227260
• Main Authors: Volc, Sahlua Miguel, Ramos, Cíntia Regina Niederauer, Galvão, Henrique de Campos Reis, Felicio, Paula Silva, Coelho, Aline Silva, Berardineli, Gustavo Noriz, Campacci, Natalia, Sabato, Cristina da Silva, Abrahao-Machado, Lucas Faria, Santana, Iara Viana Vidigal, Campanella, Nathalia, Lengert, André van Helvoort, Vidal, Daniel Onofre, Reis, Rui Manuel, Dantas, Caio F, Coelho, Robson C, Boldrini, Erica, Serrano, Sergio Vicente, Palmero, Edenir Inêz
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 01-01-2020; Public Library of Science (PLoS)
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Biology and Life Sciences; Brazil - epidemiology; Breast cancer; Cancer; Children & youth; Colorectal cancer; Deoxyribonucleic acid; Development and progression; Disease susceptibility; DNA; Etiology; Etiology (Medicine); Family medical history; Female; Founder Effect; Genealogy; Genes; Genetic aspects; Genetic Counseling; Genetic Predisposition to Disease; Genetic screening; Genetics; Germ-Line Mutation; Health sciences; Humans; Leiomyosarcoma; Li-Fraumeni syndrome; Li-Fraumeni Syndrome - diagnosis; Li-Fraumeni Syndrome - epidemiology; Li-Fraumeni Syndrome - genetics; Li-Fraumeni Syndrome - pathology; Male; Medical genetics; Medical research; Medicine and Health Sciences; Middle Aged; Mutation; Native North Americans; Neoplasms; Oncology; p53 Protein; Patients; People and places; Population; Prevalence; Research and Analysis Methods; Sarcoma; Sarcoma - diagnosis; Sarcoma - epidemiology; Sarcoma - genetics; Sarcoma - pathology; Tumor proteins; Tumor Suppressor Protein p53 - genetics; Tumors; Young Adult; Brazil; South America; Portugal
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0227260

Sarcomas represent less than 1% of all solid neoplasms in adults and over 20% in children. Their etiology is unclear, but genetic susceptibility plays an important role in this scenario. Sarcoma is central in Li-Fraumeni Syndrome (LFS), a familial predisposition cancer syndrome. In Brazil, the high prevalence of p.Arg337His mutations in the TP53 gene brings about a unique condition: a cluster of LFS. In the present work, we studied 502 sarcoma patients not selected by age or family history in an attempt to assess the impact of the so-called "Brazilian germline TP53 mutation" (p.Arg337His) on this tumor type. We found that 8% of patients are carriers, with leiomyosarcoma being the main histologic type of sarcoma, corresponding to 52.5% of the patients with the mutated TP53 gene. These findings emphasize the importance of genetic counseling and can better guide the management of sarcoma patients.