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Significant proportion of breast and/or ovarian cancer families of French Canadian descent harbor 1 of 5 BRCA1 and BRCA2 mutations by Kathleen K. Oros; Parviz Ghadirian; Celia M.T Greenwood; Chantal Perret; Zhen Shen; Yosabeth Paredes; Suzanna L. Arcand; Anne‐Marie Mes‐Masson; Steven A. Narod; William D. Foulkes; Diane Provencher; Patricia N. Tonin is a Medicine article available to read on EtoBox.
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## Abstract 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 mut
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- Author
- Kathleen K. Oros; Parviz Ghadirian; Celia M.T Greenwood; Chantal Perret; Zhen Shen; Yosabeth Paredes; Suzanna L. Arcand; Anne‐Marie Mes‐Masson; Steven A. Narod; William D. Foulkes; Diane Provencher; Patricia N. Tonin
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley; Research Square; Test accounts (ISSN 0020-7136)
- Published
- 2004
- Language
- EN
- Field
- Medicine (Health Sciences)