BRCA1 and BRCA2 in Indian breast cancer patients
| Autor: | Dinesh Bhatanager, Csilla Szabo, David E. Goldgar, Sandrine Chopin, Gilbert M. Lenoir, Laure Barjhoux, Olga M. Sinilnikova, Sunita Saxena |
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| Rok vydání: | 2002 |
| Předmět: |
Adult
Male DNA Mutational Analysis India Breast Neoplasms Biology Breast Neoplasms Male Breast cancer Gene Frequency Genetics medicine Missense mutation Humans First-degree relatives Family history skin and connective tissue diseases Genetics (clinical) BRCA2 Protein BRCA1 Protein Incidence (epidemiology) DNA Neoplasm Middle Aged medicine.disease Mutation Female Age of onset Breast Cancer Genetics Ovarian cancer Demography |
| Zdroj: | Human mutation. 20(6) |
| ISSN: | 1098-1004 |
| Popis: | Incidence of breast cancer in Indian women is not as high as in Western countries, nonetheless age-adjusted incidence rates (AAR) have risen from 17.9 to 24.9 per 100,000 from 1965 to 1985. Although these rates are still approximately one quarter to one third of incidence rates in North America and Europe, respectively, due to the large population of women at risk, nearly 80,000 new cases were diagnosed in India in 2000. Although identification of BRCA1 and BRCA2 has greatly increased our understanding of breast cancer genetics in populations of Western European descent, the role of these genes in Indian populations remains unexplored. Analysis of a series of 20 breast cancer patients from North India with either family history of breast and/or ovarian cancer (2 or more affected first degree relatives) or early age of onset (35 years) led to identification of two novel splice variants (331+1GT; 4476+2TC) in BRCA1 (10%). In addition, two BRCA2 missense variants were each identified in more than one patient (two unrelated individuals each) and likely represent population-specific polymorphisms. |
| Databáze: | OpenAIRE |
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