Genetic Risk Assessment and <i>BRCA</i> Mutation Testing
Bibliographic record
Abstract
Letters7 March 2006Genetic Risk Assessment and BRCA Mutation TestingFrancois Eisinger, MD and Douglas E. Horsman, MDFrancois Eisinger, MDFrom Paoli Calmettes Institute, 13009 Marseille, France; and British Columbia Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada.Search for more papers by this author and Douglas E. Horsman, MDFrom Paoli Calmettes Institute, 13009 Marseille, France; and British Columbia Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-144-5-200603070-00017 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail TO THE EDITOR:As usual, the U.S. Preventive Services Task Force (USPSTF) carried out an outstanding and comprehensive assessment of health services (1). However, we would like to express 3 concerns. First, should the test really be offered only to women whose family history is associated with an increased risk for deleterious mutations in BRCA1 or BRCA2? We believe that we should consider any criteria—individual or familial—that gives us a clue that a women is at risk for carrying the mutation, and we believe that every woman with the same level of risk should be treated in the same way ...References1. Nelson HD, Huffman LH, Fu R, Harris EL. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: systematic evidence review for the U.S. Preventive Services Task Force. Ann Intern Med. 2005;143:362-79. [PMID: 16144895] LinkGoogle Scholar2. Eisinger F, Jacquemier J, Charpin C, Stoppa-Lyonnet D, Bressac-de Paillerets B, Peyrat JP, et al. Mutations at BRCA1: the medullary breast carcinoma revisited. Cancer Res. 1998;58:1588-92. [PMID: 9563465] MedlineGoogle Scholar3. van Dooren S, Rijnsburger AJ, Seynaeve C, Kriege A, Duivenvoorden HJ, Bartels CC, et al. Psychological distress and breast self-examination frequency in women at increased risk for hereditary or familial breast cancer. Community Genet. 2003;6:235-41. [PMID: 15331869] MedlineGoogle Scholar4. Kosters JP, Gotzsche PC. Regular self-examination or clinical examination for early detection of breast cancer. Cochrane Database Syst Rev. 2003; 2 CD003373. [PMID: 12804462] MedlineGoogle Scholar5. Eisinger F, Geller G, Burke W, Holtzman NA. Cultural basis for differences between US and French clinical recommendations for women at increased risk of breast and ovarian cancer. Lancet. 1999;353:919-20. [PMID: 10094000] CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAuthors: Francois Eisinger, MD; Douglas E. Horsman, MDAffiliations: From Paoli Calmettes Institute, 13009 Marseille, France; and British Columbia Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada.Disclosures: None disclosed. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetailsSee AlsoGenetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility: Systematic Evidence Review for the U.S. Preventive Services Task Force Heidi D. Nelson , Laurie Hoyt Huffman , Rongwei Fu , and Emily L. Harris Genetic Risk Assessment and BRCA Mutation Testing Ned Calonge and Diana B. Petitti Metrics 7 March 2006Volume 144, Issue 5Page: 376KeywordsBirth ratesBreast cancerConflicts of interestGenetic testingHealth insuranceHereditary nonpolyposis colorectal cancerMedical servicesScientists ePublished: 7 March 2006 Issue Published: 7 March 2006 Copyright & PermissionsCopyright © 2006 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...
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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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.004 | 0.034 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.004 | 0.004 |
| Insufficient payload (model declined to judge) | 0.019 | 0.004 |
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 source (direct Gemma or distilled Codex), 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".