Breast Cancer Events Associated with Germline Mutations of the CDH1 Gene (Hereditary Diffuse Gastric Cancer).
Bibliographic record
Abstract
Abstract Breast cancer events associated with germline mutations of the CDH1 gene (Hereditary Diffuse Gastric Cancer).Background: Mutations of the CDH1 (e-cadherin) gene are known to cause an autosomal dominant familial cancer syndrome, commonly referred to as hereditary diffuse gastric cancer. The lifetime risk of gastric cancer may be up to 80 percent. An associated risk of lobular breast cancer has been identified, but less well studied. Lifetime risk of breast cancer in affected women may be up to 50 percent.Method: We identified 17 women in our centre with known CDH1 mutations that have been offered genetic counseling for breast cancer risk. Counseling included discussion of prophylactic surgery, and breast screening via MRI/mammogram. We performed a chart review to identify breast cancer screening, prophylaxis, and treatment events in these patients.Results: 16 patients had adequate chart data to study. Of these, one patient had a breast cancer (T3N0M0) prior to mutation identification. 13 of 15 remaining patients entered into a high-risk breast-screening program with annual MRI and mammogram. Two breast cancers were identified in the first two years of patient screening; both were T1N0M0. Both women opted for bilateral mastectomy. No patient opted for prophylactic breast surgery prior to cancer detection, although several were in the process of prophylactic gastrectomy.Conclusion: To our knowledge, this is the first in-depth description of breast cancer events in patients with inherited CDH1 mutations. A majority of patients have opted for a breast-screening program, with successful early detection in two patients. Patients to date have not chosen primary prophylactic breast surgery, but two have chosen bilateral mastectomy upon detection of a malignancy. Further epidemiological studies are required to fully understand the breast cancer pattern and natural history that occurs in this genetic syndrome. Citation Information: Cancer Res 2009;69(24 Suppl):Abstract nr 904.
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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 | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| 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) | 0.002 | 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 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".