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Record W2883559266 · doi:10.1136/jmedgenet-2018-105472

Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap

2018· review· en· W2883559266 on OpenAlexafffundabout
Jeanna McCuaig, Tracy Stockley, Patricia Shaw, Michael Fung‐Kee‐Fung, Alon D. Altman, J. Bentley, Marcus Q. Bernardini, Béatrice Cormier, Hal W. Hirte, Katharina Kieser, Andrée MacMillan, Wendy S. Meschino, Karen Panabaker, Renée Perrier, Diane Provencher, Kasmintan A. Schrader, Kimberly Serfas, Eva Tomiak, Nora Wong, Sean Young, Walter H. Gotlieb, Paul Hoskins, Raymond H. Kim

Bibliographic record

VenueJournal of Medical Genetics · 2018
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsUniversity of British ColumbiaJewish General HospitalCentre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-JeanChildren's Hospital of Eastern OntarioWinnipeg Regional Health AuthorityBC Cancer AgencyAlberta Children's HospitalLondon Health Sciences CentreNorth York General HospitalCentre Intégré Universitaire de Santé et de Services Sociaux du Centre-Sud-de-l'Île-de-MontréalUniversity of ManitobaJuravinski Cancer CentreUniversité de MontréalNova Scotia Health AuthorityPrincess Margaret Cancer CentreCancerCare ManitobaUniversity Health NetworkOttawa HospitalUniversity of TorontoSt. John’s Health Sciences Centre
FundersPartenariat Canadien Contre Le CancerOvarian Cancer CanadaSanofiAstraZenecaPfizer
KeywordsGenetic testingGenetic counselingOvarian cancerOlaparibMedicinePrecision medicinePersonalized medicineCancerOncologyBioinformaticsGynecologyBiologyInternal medicineGeneticsPathologyGenePolymerasePoly ADP ribose polymerase

Abstract

fetched live from OpenAlex

The landscape of genetic testing in ovarian cancer patients has changed dramatically in recent years. The therapeutic benefits of poly ADP-ribose polymerase (PARP) inhibitors in treatment of BRCA1/2 -related ovarian cancers has resulted in an increased demand and urgency for genetic testing results, while technological developments have led to widespread use of multi-gene cancer panels and development of tumour testing protocols. Traditional genetic counselling models are no longer sustainable and must evolve to match the rapid evolution of genetic testing technologies and developments in personalized medicine. Recently, representatives from oncology, clinical genetics, molecular genetics, pathology, and patient advocacy came together to create a national multi-disciplinary Canadian consortium. By aligning stakeholder interests, the BRCA Testing to Treatment (BRCA TtoT) Community of Practice aims to develop a national strategy for tumour and germline BRCA1/2 testing and genetic counselling in women with ovarian cancer. This article serves to provide an overview of the recent evolution of genetic assessment for BRCA1/2 -associated gynecologic malignancies and outline a Canadian roadmap to facilitate change, improve genetic testing rates, and ultimately improve outcomes for hereditary ovarian cancer patients and their families.

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 imitation

Not 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.

metaresearch head score (Codex)0.002
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow), Research integrity
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.870
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0020.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0010.000
Insufficient payload (model declined to judge)0.0000.000

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.

Opus teacher head0.032
GPT teacher head0.362
Teacher spread0.330 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

Study designNot applicable
Domainnot available
GenreReview

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".

Quick stats

Citations46
Published2018
Admission routes3
Has abstractyes

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