HABP2 p.G534E variant in patients with family hist... - BV FAPESP
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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

HABP2 p.G534E variant in patients with family history of thyroid and breast cancer

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Author(s):
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
Total Authors: 9
Document type: Journal article
Source: ONCOTARGET; v. 8, n. 25, p. 40896-40905, JUN 20 2017.
Web of Science Citations: 1
Abstract

Familial Papillary Thyroid Carcinoma (PTC) has been described as a hereditary predisposition cancer syndrome associated with mutations in candidate genes including HABP2. Two of 20 probands from families with history of PTC and breast carcinoma (BC) were evaluated by whole exome sequencing (WES) revealing HABP2 p.G534E. Sanger sequencing was used to confirm the involvement of this variant in three families (F1: 7 relatives; F2: 3 and F3: 3). The proband and his sister (with no malignant tumor so far) from F1 were homozygous for the variant whereas one relative with PTC from F2 was negative for the variant. Although the proband of the F3 with PTC was HABP2 wild type, three relatives presented the variant. Five of 170 healthy Brazilian individuals with no family history of BC or PTC and three of 50 sporadic PTC presented the p.G534E. These findings suggested no association of this variant with our familial PTC cases. Genes potentially associated with deregulation of the extracellular matrix organization pathway (CTSB, TNXB, COL4A3, COL16A1, COL24A1, COL5A2, NID1, LOXL2, MMP11, TRIM24 and MUSK) and DNA repair function (NBN and MSH2) were detected by WES, suggesting that other cancer-associated genes have pathogenic effects in the risk of familial PTC development. (AU)

FAPESP's process: 12/12714-5 - Predisposition gene identification in thyroid and breast carcinomas syndrome by exoma sequencing
Grantee:Maísa Pinheiro
Support Opportunities: Scholarships in Brazil - Master
FAPESP's process: 14/03983-8 - Predisposition gene identification in thyroid and breast carcinomas syndrome by exome sequencing
Grantee:Maísa Pinheiro
Support Opportunities: Scholarships in Brazil - Doctorate (Direct)