Significant proportion of breast and/or ovarian cancer families of French Canadian descent harbor 1 of 5BRCA1 andBRCA2 mutations
| Autor: | Anne-Marie Mes-Masson, Suzanna L. Arcand, Patricia N. Tonin, Yosabeth Paredes, Kathleen Klein Oros, Diane Provencher, Parviz Ghadirian, Zhen Shen, William D. Foulkes, Celia M. T. Greenwood, Chantal Perret, Steven A. Narod |
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| Rok vydání: | 2004 |
| Předmět: |
Adult
Male Canada Cancer Research Population Breast Neoplasms Biology medicine.disease_cause Cancer syndrome Germline mutation Breast cancer Gene Frequency medicine Humans Family Neoplasms Glandular and Epithelial education Germ-Line Mutation Aged BRCA2 Protein Ovarian Neoplasms Genetics education.field_of_study Mutation BRCA1 Protein Cancer Middle Aged medicine.disease Oncology Female France Ovarian cancer Founder effect |
| Zdroj: | International Journal of Cancer. 112:411-419 |
| ISSN: | 1097-0215 0020-7136 |
| DOI: | 10.1002/ijc.20406 |
| Popis: | In 1998, we reported that a significant proportion of breast and/or ovarian cancer families of French Canadian descent harbor specific germline mutations in BRCA1 or BRCA2 attributed to common founders. Here we report the frequency of previously described mutations (n = 7) and 13 mutations identified in French Canadian families since 1998, in a new group of families (n = 88). Four of the previously described mutations, 4446C>T, 2953delGTAinsC, 8765delAG and 6085C>T, account for 72% and 69% of mutation-positive families in previously (n = 81) and recently ascertained groups, respectively. Only 2 of 13 recently identified mutations were found in more than 1 family: 3875delGTCT (n = 2) and 3398delAAAAG (n = 4). The 2 groups (ascertained pre- and post-gene discovery) did not differ significantly when distribution of mutations based on cancer syndrome phenotype and age of diagnosis or number of breast cancer cases were compared. Five common mutations accounted for a significant proportion (84%) of all mutation-positive families. The age of diagnosis of female breast cancer in mutation-negative families was significantly higher than that of the mutation-positive families (p |
| Databáze: | OpenAIRE |
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