<i>HABP2</i> p.G534E variant in patients with family history of thyroid and breast cancer
Bibliographic record
Abstract
// Maisa Pinheiro 1, 2 , Sandra Aparecida Drigo 2 , Renata Tonhosolo 1 , Sonia C.S. Andrade 3 , Fabio Albuquerque Marchi 1 , Igor Jurisica 4, 5 , Luiz Paulo Kowalski 6 , Maria Isabel Achatz 1, 7 and Silvia Regina Rogatto 1, 2, 8 1 CIPE - International Research Center, A. C. Camargo Cancer Center, Sao Paulo, SP, Brazil 2 Department of Urology, Faculty of Medicine, São Paulo State University, UNESP, Botucatu, SP, Brazil 3 Department of Genetics and Evolutionary Biology, University of Sao Paulo, USP, Sao Paulo, SP, Brazil 4 Princess Margaret Cancer Centre, University Health Network and The University of Toronto, Toronto, ON, Canada 5 Institute of Neuroimmunology, Slovak Academy of Sciences, Bratislava, Slovakia 6 Department of Head and Neck Surgery and Otorhinolaryngology, A. C. Camargo Cancer Center, Sao Paulo, SP, Brazil 7 Division of Cancer Epidemiology and Genetics, National Cancer Institute/National Institutes of Health, Bethesda, MD, USA 8 Department of Clinical Genetics, Vejle Hospital, Institute of Regional Health Research, University of Southern Denmark, Vejle, Denmark Correspondence to: Silvia Regina Rogatto, email: silvia.regina.rogatto@rsyd.dk , rogatto@fmb.unesp.br Keywords: breast cancer, thyroid cancer, genetics, molecular markers, hereditary tumors Received: February 07, 2017     Accepted: March 13, 2017     Published: March 29, 2017 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.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".