Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population

  title={Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population},
  author={Gabriela ES Felix and Camila Abe-Sandes and Ta{\'i}sa MB Machado-Lopes and Thais Ferreira Bomfim and Rodrigo Santa Guindalini and Vanessa Catarine SAR Santos and Lorena Meyer and Polyanna C Oliveira and Jo{\~a}o Cl{\'a}udio Neiva and Roberto Meyer and Maura Romeo and Maria Bet{\^a}nia Toralles and Ivana Nascimento and Kiyoko Ab{\'e}-Sandes},
  booktitle={Human Genome Variation},
Considering the importance of BRCA1, BRCA2, CHEK2 and TP53 in the development of hereditary early-onset breast and ovarian cancer and that the genetic susceptibility profile of the Northeast population from Brazil has never been analyzed, this study aimed to verify the frequency of mutations of clinical significance in these genes in high-risk hereditary breast and ovarian cancer (HBOC) syndrome patients from that region. DNA samples from 106 high-risk unrelated patients mostly from Bahia, the… CONTINUE READING


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