Abstract
Pathogenic mutations in BRCA1 and BRCA2 have been reported in about 55–59% of breast and ovarian cancer (HBOC) families of French Canadian descent, where about 70% of families with more than two cases of ovarian cancer were mutation-positive. Given that specific subtypes of ovarian cancer are associated with mutation-positive families, we reviewed the features of 54 HBOC families of French Canadian descent that had histopathologically confirmed cases of invasive ovarian cancer where the BRCA1 and BRCA2 mutation status is known, and 27 families harbored germline mutations. The number of cases and ages of diagnosis of either breast cancers or ovarian cancers did not differ significantly in comparisons of mutation-positive and mutation-negative groups. However, the distribution of histopathological subtypes for the 79 cases of invasive epithelial cancer from the 54 HBOC families differed when grouped according to familial mutation status. The mutation-negative group had significantly more cases of the mucinous subtype of ovarian cancer when compared with the BRCA1 (P = 0.005) and BRCA2 (P = 0.017) mutation-positive groups. The presence of a mucinous subtype ovarian cancer in multiple young age of onset breast and/or ovarian mutation-negative HBOC cancer families warrants further investigation, as these families appear to exhibit features most consistent with BRCA1 and BRCA2 carrier status.
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Acknowledgments
We thank the participants and their families for their cooperation. This work was supported by grants from the Cancer Research Society Inc., to P.N.T. and the Banque de tissus et de données of the Réseau de recherche sur le cancer of the Fonds de la recherche en santé du Québec to C.M, A.M. M.-M., D.M.P., and P.N.T.
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Tonin, P.N., Maugard, C.M., Perret, C. et al. A review of histopathological subtypes of ovarian cancer in BRCA-related French Canadian cancer families. Familial Cancer 6, 491–497 (2007). https://doi.org/10.1007/s10689-007-9152-x
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DOI: https://doi.org/10.1007/s10689-007-9152-x