Abstract P2-12-04: Evaluation of BRCA 1/2 mutation-carrier probability models, BRCAPRO and myriad II, in the Japanese population
| Autor: | M Ito, A. Furuta, Y. Yasuda, Noriaki Ohuchi |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
Oncology
Gynecology Cancer Research medicine.medical_specialty medicine.diagnostic_test business.industry Genetic counseling BRCA mutation Cancer medicine.disease Breast cancer Mutation Carrier Internal medicine Mutation (genetic algorithm) medicine Family history skin and connective tissue diseases business Genetic testing |
| Zdroj: | Cancer Research. 73:P2-12 |
| ISSN: | 1538-7445 0008-5472 |
| DOI: | 10.1158/0008-5472.sabcs13-p2-12-04 |
| Popis: | Background: It is important to select high-risk group with a BRCA1/2 mutation and recommend them to provide genetic counseling and genetic testing. BRCAPRO and Myriad II are widely used for predicting BRCA mutation-carrier probability and useful for selecting eligible person of genetic testing. However, It is reported that BRCAPRO tends to underestimate the risk of BRCA1/2 mutation probability in Asian. The validation of these models are not sufficiently known in Japanese population. Methods: Twenty-six hundred sixty-five people visited to Ishinomaki Red Cross Hospital between 2011 and 2012.They were surveyed family history as a risk factor of inheriting breast cancer according to NCCN guideline. We calculated BRCA1/2 mutation probability by BRCAPRO and Myriad II. Those who had more than 10% mutation probability and early-onset breast cancer, triple negative breast cancer were received genetic counseling and genetic testing for applicants. We analyzed association between family history of the probands and BRCA 1/2 mutation. We also calculated sensitivity, specificity and positive predictive value(PPV) at the10% threshold in BRCAPRO and Myriad II. Results: Two handred forty-three(9.1%) people were selected as a risk of inheriting breast cancer, of which sixty-eight people (2.5%) were constructed family tree. The number of people who had more than 10% and 30% mutation probability by BRCAPRO was eight (0.30%) and five (0.18%).Fourteen people performed BRCA1/2 genetic testing (proband : thirteen, relative: one). Seven people carried a deleterious BRCA mutation (BRCA1: five, BRCA2: two). In the cases which had more than 30% mutation probability, all of them carried a deleterious BRCA mutation. Most of their mutation site was L63X which was most frequent in Japan. People who had personal or family history of breast and ovarian cancer, triple negative breast cancer were significantly associated with BRCA1/2 mutation.(p = 0.035,p = 0.015,p = 0.009) Using a 10% threshold, sensitivity, specificity, positive predictive value in BRCAPRO was 75%,83%,85% and 63%,67%,71% in Myriad II respectively. When it comes to the cases which had more than 30% mutation probability, Sensitivity, specificity, positive predictive value were all 100% in BRCAPRO. Conclusions: It is recommended to perform genetic testing for especially those who have personal or family history of both breast and ovarian cancer, triple negative breast cancer. 10% threshold of BRCAPRO and Myriad II is generally applicable to selecting eligible person in the Japanese population. BRCAPRO is superior to Myriad II in terms of sensitivity, specificity, PPV in our study. The cases which have more than 30% mutation probability need to have genetic testing. Citation Information: Cancer Res 2013;73(24 Suppl): Abstract nr P2-12-04. |
| Databáze: | OpenAIRE |
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