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Predisposition gene identification in thyroid and breast carcinomas syndrome by exoma sequencing

Grant number: 12/12714-5
Support type:Scholarships in Brazil - Master
Effective date (Start): November 01, 2012
Effective date (End): February 28, 2014
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal Investigator:Silvia Regina Rogatto
Grantee:Maísa Pinheiro
Home Institution: Faculdade de Medicina (FMB). Universidade Estadual Paulista (UNESP). Campus de Botucatu. Botucatu , SP, Brazil

Abstract

Hereditary cancer syndromes are estimated to account for 10% of all tumors, while 15% of cases are associated with familial aggregation of cancer. The etiology of solid tumors, including breast carcinomas (BC) and thyroid carcinomas (TC), is multifactorial, dependent on environmental and genetic factors playing a variable role in the disease etiology. However, a significant incidence of these tumors is associated with a hereditary component. Thus, the identification of predisposition factors and characterization of the genetic risk are essential for diagnosis, prognosis and genetic counseling of affected members of these families. Within this context, the Exome Sequence Technology, based on genome protein coding sequence capture by hybridization, has been applied for searching the disease-related variations, mainly in monogenic inherited disorders. About 85% of the large effects mutations happen at protein coding sequence, found in both exonic regions and splicing sites. In this study, which aims to identify predisposition genes associated with breast and thyroid carcinomas, it will be evaluated the exoma of 30 families with history of breast and thyroid cancer selected by well-defined criteria. The selected probands are negative for common mutations in major hereditary predisposition genes-related with these tumors, including BRCA1, BRCA2, TP53 e CHEK2. The detection and definition of novel genetic alterations associated with these tumors could extend the spectrum of hereditary cancer syndromes, permit the identification of patients at risk of developing these tumors, as well as contribute with the molecular diagnoses and genetic counseling of those families.

Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
PINHEIRO, MAISA; SULLA LUPINACCI, FERNANDA CRISTINA; SANTIAGO, KARINA MIRANDA; DRIGO, SANDRA APARECIDA; MARCHI, FABIO ALBUQUERQUE; FONSECA-ALVES, CARLOS EDUARDO; DA SILVA ANDRADE, SONIA CRISTINA; AAGAARD, MADS MALIK; BASSO, TATIANE RAMOS; DOS REIS, MARIANA BISARRO; RIOS VILLACIS, ROLANDO ANDRE; ROFFE, MARTIN; MAROSO HAJJ, GLAUCIA NOELI; JURISICA, IGOR; KOWALSKI, LUIZ PAULO; ACHATZ, MARIA ISABEL; ROGATTO, SILVIA REGINA. Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer. CANCERS, v. 12, n. 5 MAY 2020. Web of Science Citations: 0.
PINHEIRO, MAISA; DRIGO, SANDRA APARECIDA; TONHOSOLO, RENATA; ANDRADE, SONIA C. S.; MARCHI, FABIO ALBUQUERQUE; JURISICA, IGOR; KOWALSKI, LUIZ PAULO; ACHATZ, MARIA ISABEL; ROGATTO, SILVIA REGINA. HABP2 p.G534E variant in patients with family history of thyroid and breast cancer. ONCOTARGET, v. 8, n. 25, p. 40896-40905, JUN 20 2017. Web of Science Citations: 1.

Please report errors in scientific publications list by writing to: cdi@fapesp.br.