Article
HABP2 p.G534E variant in patients with family history of thyroid and breast cancer.
Oncotarget - 20 Jun 2017
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
Abstract excerpt
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...
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