TP53 p.Arg337His germline mutation prevalence in Southern Brazil: Further evidence for mutation testing in young breast cancer patients

Premenopausal breast cancer (BC) is a core tumor of Li-Fraumeni (LFS) and Li-Fraumeni-like (LFL) Syndromes, predisposition disorders caused by germline mutations in TP53 gene. In the Southern and Southeastern regions of Brazil, a specific TP53 germline mutation, c.1010G>A (p.Arg337His), was ident...

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Published in:	PloS one Vol. 13; no. 12; p. e0209934
Main Authors:	Hahn, Eriza Cristina, Bittar, Camila Matzenbacher, Vianna, Fernanda Sales Luis, Netto, Cristina Brinckmann Oliveira, Biazús, Jorge Villanova, Cericatto, Rodrigo, Cavalheiro, José Antônio, de Melo, Márcia Portela, Menke, Carlos Henrique, Rabin, Eliane, Leistner-Segal, Sandra, Ashton-Prolla, Patricia
Format:	Journal Article
Language:	English
Published:	United States Public Library of Science 31-12-2018 Public Library of Science (PLoS)
Subjects:	Adult Age Factors Amino Acid Substitution Biology and Life Sciences Brazil - epidemiology Breast cancer Breast Neoplasms - diagnosis Breast Neoplasms - epidemiology Breast Neoplasms - genetics Cancer Carrier frequencies Cell cycle Current carriers Engineering and Technology Female Genes Genetic counseling Genetics Genotype Genotyping Germ-Line Mutation Humans Internet Medical diagnosis Medicine and Health Sciences Middle Aged Mutation Mutation, Missense Ovarian cancer p53 Protein Patients People and places Population Research and Analysis Methods Tumor Suppressor Protein p53 - genetics Tumors Womens health Brazil Rio Grande do Sul Brazil
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Summary:	Premenopausal breast cancer (BC) is a core tumor of Li-Fraumeni (LFS) and Li-Fraumeni-like (LFL) Syndromes, predisposition disorders caused by germline mutations in TP53 gene. In the Southern and Southeastern regions of Brazil, a specific TP53 germline mutation, c.1010G>A (p.Arg337His), was identified at a population frequency of 0.3%, the highest value ever described for a TP53 germline variation. In Brazilian BC patients, carrier frequency can vary from 0.5% to 8.7%. The current study assessed carrier frequency by genotyping TP53 c.1010G>A in 2 BC groups: 1) 315 patients unselected for age of diagnosis and family history (FH) and 2) 239 patients diagnosed before 46 years and without Chompret criteria for LFS or LFL. One carrier was identified in group 1 (0.3%; CI 95% 0.1-1.76%) and six carriers in group 2 (2.5%; CI 95% 0.93-5.39%). The frequencies differed significantly between groups (p = 0.04). The mutation carrier frequency observed in group 2 could justify mutation testing in BC patients diagnosed before 46 years and without Chompret criteria for LFS or LFL. Further studies in larger samples of BC patients of different ages and regions of the country are necessary to provide more definitive TP53 p.Arg337His carrier frequencies in different scenarios.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 Competing Interests: The authors have declared that no competing interests exist.
ISSN:	1932-6203 1932-6203
DOI:	10.1371/journal.pone.0209934