Pathology update to the Manchester Scoring System based on testing in over 4000 families
| Autor: | Inga Plaskocinska, Tara Clancy, Marc Tischkowitz, Fiona Lalloo, D. Gareth Evans, Andrew J Wallace, Tony Howell, Emma R. Woodward, Elaine F. Harkness |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty Scoring system Genes BRCA2 Population Genes BRCA1 Breast Neoplasms 030105 genetics & heredity Risk Assessment Sensitivity and Specificity 03 medical and health sciences 0302 clinical medicine Genetics medicine Serous ovarian cancer Humans Triple negative breast cancer Genetic Predisposition to Disease Genetic Testing education Genetics (clinical) Triple-negative breast cancer Ovarian Neoplasms education.field_of_study business.industry Cancer BRCA1 medicine.disease BRCA2 High grade serous ovarian cancer 030220 oncology & carcinogenesis Mutation Female Neoplasm Grading Manchester scoring system Ovarian cancer business |
| Zdroj: | Evans, D, Harkness, E, Plaskocinska, I, Wallace, A, Clancy, T, Woodward, E, Howell, A, Tischkowitz, M & Lalloo, F 2017, ' Pathology update to the Manchester Scoring System based on testing in over 4000 families ', Journal of Medical Genetics, vol. 2017, no. 54 . https://doi.org/10.1136/jmedgenet-2017-104584 University of Manchester-PURE |
| ISSN: | 1468-6244 0022-2593 |
| DOI: | 10.1136/jmedgenet-2017-104584 |
| Popis: | Background: Whilst the requirement for thresholds for testing for mutations in BRCA1/2 is being questioned, they are likely to remain for individuals unaffected by a relevant cancer. It is still useful to provide pre-testing likelihoods, but models need to take into account tumour pathology.Methods: The Manchester scoring system (MSS) is a well utilised, simple, paper based model for assessing carrier probability that already incorporates pathology data. We have used mutation testing data from 4115 unrelated samples from affected non-Jewish individuals alongside tumour pathology to further refine the scoring system.Results: Adding additional points for high grade serous ovarian cancer |
| Databáze: | OpenAIRE |
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