P4-19-05: A Population-Based Study of Guideline-Based BRCA Screening in Male Breast Carcinoma.
Bibliographic record
Abstract
Abstract Purpose: The British Columbia Cancer Agency (BCCA) Hereditary Cancer Program (HCP) is a publicly funded, centralized program that provides BRCA testing to patients with male breast cancer (MBC) who meet specified referral criteria (aimed at detecting a mutation in > 10% of those tested). Criteria include: MBC with Ashkenazi heritage, MBC with one other family member with breast or ovarian cancer, MBC diagnosed at < 35 years, Bilateral MBC with first diagnosed at < 50 year. In this context, the purpose was to study referral patterns for hereditary counselling and outcomes of BRCA testing within a population-based study of male breast carcinoma. Patients and Methods Records of consecutive cases of invasive MBC diagnosed from 2000 to 2010 were reviewed. We documented any recorded personal and family history of cancer. For those meeting the HCP referral criteria we recorded whether a referral was made and the outcome of any genetic testing. Results: Of 158 cases of MBC, 23 (14.6%) patients (21 met referral criteria; 2 did not) were seen for genetic counselling, of whom 21 were offered BRCA1/2 testing, and 19 accepted testing. Of 19 patients with BRCA1/2 genetic test results, 3 (16%) had a pathogenic mutation identified; one in the BRCA1 gene (c.1387_1390delinsGAAAG) and two in the BRCA2 gene (***c.755_758delACAG; c.1813dupA). In a further 4 cases (21%) an unclassified variant in BRCA1 was identified. In the remaining 12 cases (63%), testing was uninformative. Conclusions: The BRCA1/2 mutation detection rate of 16% is in line with the expected rate of >10% using established selection criteria. Expanding the criteria at this time to include all male breast cancers would be expected to decrease the detection rate below 10% with the potential to negatively impact on the publicly-funded and finite resources of the Hereditary Cancer Program and Cancer Genetics Laboratory. Citation Information: Cancer Res 2011;71(24 Suppl):Abstract nr P4-19-05.
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 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 | 0.001 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.001 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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".