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A portrait of germline mutation in Brazilian at-risk for hereditary breast cancer.

Breast cancer research and treatment - 1 Dec 2018

de Souza Timoteo Ana Rafaela, Gonçalves Ana Élida Menezes Magalhães, Sales Lucas Amadeus Porpino, Albuquerque Betina Menezes, de Souza Jorge Estefano Santana, de Moura Patrícia Cristina Pascoto, de Aquino Marcos Alberto Arruda, Agnez-Lima Lucymara Fassarela, Lajus Tirzah Braz Petta

Abstract excerpt

PURPOSE: Knowledge about the germline mutational spectrum among Brazilian with hereditary breast and ovarian cancer (HBOC) is limited. Only five studies have performed comprehensive BRCA sequencing, corresponding to 1041 individuals among a Brazilian population of over 207 million people. Herein we aimed to determine the clinical and molecular characteristics of Brazilian patients who underwent oncogenetic...

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Ataxia Telangiectasia Mutated Proteins
Brazil
Breast Neoplasms
Genes, BRCA1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Predisposition to Disease

Germ-Line Mutation

High-Throughput Nucleotide Sequencing

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PMID: 30159786
DOI: 10.1007/s10549-018-4938-0

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