Research Papers:

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

Maisa Pinheiro _, Sandra Aparecida Drigo, Renata Tonhosolo, Sonia Andrade, Fabio Albuquerque Marchi, Igor Jurisica, Luiz Paulo Kowalski, Maria Isabel Achatz and Silvia Regina Rogatto

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Oncotarget. 2017; 8:40896-40905. https://doi.org/10.18632/oncotarget.16639

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Maisa Pinheiro1,2, Sandra Aparecida Drigo2, Renata Tonhosolo1, Sonia C.S. Andrade3, Fabio Albuquerque Marchi1, Igor Jurisica4,5, Luiz Paulo Kowalski6, Maria Isabel Achatz1,7 and Silvia Regina Rogatto1,2,8

1CIPE - International Research Center, A. C. Camargo Cancer Center, Sao Paulo, SP, Brazil

2Department of Urology, Faculty of Medicine, São Paulo State University, UNESP, Botucatu, SP, Brazil

3Department of Genetics and Evolutionary Biology, University of Sao Paulo, USP, Sao Paulo, SP, Brazil

4Princess Margaret Cancer Centre, University Health Network and The University of Toronto, Toronto, ON, Canada

5Institute of Neuroimmunology, Slovak Academy of Sciences, Bratislava, Slovakia

6Department of Head and Neck Surgery and Otorhinolaryngology, A. C. Camargo Cancer Center, Sao Paulo, SP, Brazil

7Division of Cancer Epidemiology and Genetics, National Cancer Institute/National Institutes of Health, Bethesda, MD, USA

8Department of Clinical Genetics, Vejle Hospital, Institute of Regional Health Research, University of Southern Denmark, Vejle, Denmark

Correspondence to:

Silvia Regina Rogatto, email: [email protected], [email protected]

Keywords: breast cancer, thyroid cancer, genetics, molecular markers, hereditary tumors

Received: February 07, 2017    Accepted: March 13, 2017    Published: March 29, 2017


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.

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