Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection
| Autor: | Rita D. Brandão, J. J. T. van Harssel, Aimee D C Paulussen, Marinus J. Blok, E. B. Gomez Garcia, Y. Detisch, Maurice P. Zeegers, C. E. P. van Roozendaal |
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| Přispěvatelé: | RS: NUTRIM - R4 - Gene-environment interaction, Genetica & Celbiologie, Populatie Genetica, Complexe Genetica |
| Jazyk: | angličtina |
| Rok vydání: | 2010 |
| Předmět: |
Male
Proband Oncology Cancer Research SCORING SYSTEM Genes BRCA1 Bioinformatics FAMILY-HISTORY Brca1 2 mutation 0302 clinical medicine Genetics(clinical) Unclassified variants Family history skin and connective tissue diseases Genetics (clinical) BRCAPRO AMERICAN-SOCIETY RISK 0303 health sciences BRCA1 Protein Genetic Carrier Screening UNKNOWN CLINICAL-SIGNIFICANCE Pedigree 3. Good health SUSCEPTIBILITY GENES Mutation probability 030220 oncology & carcinogenesis Mutation (genetic algorithm) Female Algorithms medicine.medical_specialty Breast Neoplasms Genetic Counseling Biology DNA-SEQUENCE VARIANTS Article OVARIAN-CANCER OPTIMAL SELECTION 03 medical and health sciences Breast cancer Internal medicine medicine Genetics Humans BREAST-CANCER Genetic Predisposition to Disease Genetic Testing Probability model Myriad II Probability 030304 developmental biology Genetic Variation Cancer medicine.disease BRCA1 BRCA2 Human genetics Mutation |
| Zdroj: | Familial Cancer, 9(2), 193-201. Springer, Cham Familial Cancer |
| ISSN: | 1573-7292 1389-9600 |
| Popis: | Considerable differences exist amongst countries in the mutation probability methods and thresholds used to select patients for BRCA1/2 genetic screening. In order to assess the added value of mutation probability methods, we have retrospectively calculated the BRCAPRO and Myriad II probabilities in 306 probands who had previously been selected for DNA-analysis according to criteria based on familial history of cancer. DNA-analysis identified 52 mutations (16.9%) and 11 unclassified variants (UVs, 3.6%). Compared to cancer history, a threshold > or = 10% with BRCAPRO or with Myriad II excluded about 40% of the patients from analysis, including four with a mutation and probabilities 20% with BRCAPRO and Myriad II. In summary, BRCAPRO and Myriad II are more efficient than cancer history alone to exclude patients without a mutation. BRCAPRO performs better for the detection of BRCA1 mutations than of BRCA2 mutations. The Myriad II scores provided no additional information than the BRCAPRO scores alone for the detection of patients with a mutation. The use of thresholds excluded from analysis the majority of patients carrying an UV. |
| Databáze: | OpenAIRE |
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