← Back to cohort
Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset
Aimee L. Davidson, Kyriaki Michailidou, Michael T. Parsons, Cristina Fortuño, Manjeet K. Bolla, Qin Wang, Joe Dennis, Marc Naven, Mustapha Abubakar, Thomas U. Ahearn, M. Rosario Alonso, Irene L. Andrulis, Antonis C. Antoniou, Päivi Auvinen, Sabine Behrens, Marina Bermisheva, Natalia Bogdanova, Stig E. Bojesen, Thomas Brüning, Helen Byers, Nicola J. Camp, Archie Campbell, Jose E. Castelao, Melissa H. Cessna, Jenny C. Chang, Stephen J. Chanock, Georgia Chenevix‐Trench, Kristine Kleivi Sahlberg, Anne‐Lise Børresen‐Dale, Inger Torhild Gram, Karina Standahl Olsen, Olav Engebråten, Bjørn Naume, Jürgen Geisler, OSBREAC, Grethe I.G. Alnæs, J. Margriet Collée, Kamila Czene, Thilo Dörk, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Jonine D. Figueroa, Henrik Flyger, Manuela Gago-Domínguez, Montserrat García‐Closas, Gord Glendon, Anna González‐Neira, Felix Graßmann, Jacek Gronwald, Pascal Guénel, Andreas Hadjisavvas, Lothar Haeberle, Per Hall, Ute Hamann, Mikael Hartman, Peh Joo Ho, Maartje J. Hooning, Reiner Hoppe, Anthony Howell, David J. Amor, Lesley Andrews, Yoland Antill, Rosemary L. Balleine, Jonathan Beesley, Ian Bennett, Simon Bodek, Meagan Brennan, Michael F. Buckley, Jo Burke, Phyllis Butow, Liz Caldon, Ian Campbell, Michelle Cao, Anannya Chakrabarti, Deepa Chauhan, Manisha Chauhan, Alice Christian, Paul A. Cohen, Alison Colley, Ashley Crook, James Cui, Eliza Courtney, Margaret C. Cummings, Sarah‐Jane Dawson, Anna DeFazio, Martin Delatycki, Rebecca Dickson, Joanne Dixon, Stacey L. Edwards, Gelareh Farshid, Andrew Fellows, Georgina Fenton, Michael Field, James M. Flanagan, Peter C.C. Fong, Laura Forrest, Stephen Fox, Juliet D. French, Michael Friedländer, Clara Gaff, Mike Gattas, Peter M. George, Sian Greening, Marion Harris, Stewart Hart, Philip Harraka, John L. Hopper, Cass Hoskins, Clare Hunt, Mark A. Jenkins, Alexa Kidd, Judy Kirk, Jessica Koehler, James Kollias, Sunil R. Lakhani, Mitchell Lawrence, Jason S. Lee, Shuai Li, Geoffrey J. Lindeman, Jocelyn Lippey, Lara Lipton, Liz Lobb, Sherene Loi, Graham J. Mann, Deborah J. Marsh, Sue Anne McLachlan, Bettina Meiser, Sophie Nightingale, Shona O’Connell, Sarah O’Sullivan, David Gallego‐Ortega, Nick Pachter, Jia‐Min Pang, Gargi Pathak, Briony Patterson, Amy Pearn, Ellen Pieper, Susan Ramus, Edwina Rickard, Abi Ragunathan, Bridget A. Robinson, Mona Saleh, Anita Skandarajah, Elizabeth Salisbury, Christobel Saunders, Jodi M. Saunus, Peter Savas, Rodney J. Scott, Clare L. Scott, Adrienne Sexton, Joanne Shaw, Andrew N. Shelling, Shweta Srinivasa, Peter Simpson, Jessica Taylor, Renea A. Taylor, Heather Thorne, Alison Trainer, Kathy Tucker, Jane E. Visvader, Logan C. Walker, Rachael Williams, Ingrid Winship, Mary Ann Young, Milita Zaheed, Anna Jakubowska, Э. К. Хуснутдинова, Vessela N. Kristensen, Jingmei Li, Joanna Lim, Annika Lindblom, Jenny Liu, Artitaya Lophatananon, Arto Mannermaa, D. Mavroudis, Arjen R. Mensenkamp, Roger L. Milne, Kenneth Muir, William G. Newman, Nadia Obi, Mihalis I. Panayiotidis, Sue K. Park, Tjoung‐Won Park‐Simon, Paolo Peterlongo, Paolo Radice, Muhammad Usman Rashid, Valerie Rhenius, Emmanouil Saloustros, Elinor J. Sawyer, Marjanka K. Schmidt, Petra Seibold, Mitul Shah, Melissa C. Southey, Soo‐Hwang Teo, Ian Tomlinson, Diana Torres, Thérèse Truong, Irma van de Beek, Annemieke H. van der Hout, Camilla C. Wendt, Alison M. Dunning, Paul D.P. Pharoah, Peter Devilee, Douglas F. Easton, Paul A. James, Amanda B. Spurdle
Bibliographic record
VenueThe American Journal of Human Genetics · 2024
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsLunenfeld-Tanenbaum Research InstituteUniversity of TorontoMount Sinai Hospital
FundersEuropean CommissionNational Health and Medical Research CouncilNational Cancer InstituteNational Institutes of HealthSaint Petersburg State UniversityNational Breast Cancer Foundation
KeywordsPALB2Breast cancerGeneticsGermlineMissense mutationBiologyGeneGermline mutationCancerPopulationMale breast cancerMutationMedicine
Abstract
No abstract in any covered source. Its absence is recorded, not treated as a negative.
No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
metaresearch head score (Codex)0.002
metaresearch head score (Gemma)0.009
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.006
Threshold uncertainty score0.015
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.009 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 0.002 |
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 head0.022
GPT teacher head0.314
Teacher spread0.292 · how far apart the two teachers sit on this one work
Validation status
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 source (direct Gemma or distilled Codex), not a consensus.
The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical
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
Citations8
Published2024
Admission routes1
Has abstractno