Article Dans Une Revue Breast Cancer Research and Treatment Année : 2008

Analysis of and Fanconi Anemia genes in -negative Spanish breast cancer families

Résumé

Recent reports have shown that mutations in the and Fanconi Anemia (FA) genes confer a moderate breast cancer risk. Discussion has been raised on the phenotypic characteristics of the associated families and tumors. The role of in breast cancer susceptibility has not been tested to date. Likewise mutation frequency has not been studied in Spanish population. We analyzed the complete coding sequence and splicing sites of and in 95 index cases of -negative Spanish breast cancer families. We also performed an exhaustive screening of three previously described rare but recurrent mutations in 725 additional probands. Pathogenic changes were not detected in . We found a novel truncating mutation c.1056_1057delGA (p.K353IfsX7) in one of the 95 screened patients, accounting for a mutation frequency of 1% in our series. Further comprehensive screening of the novel mutation and of previously reported rare but recurrent mutations did not reveal any carrier patient. We report the first example of LOH occurring in a -associated tumor. Our results rule out a major contribution of to hereditary breast cancer. Our data are consistent with the notion of individually rare mutations, lack of mutational hot-spots in the gene and existence of between-population disease-allele heterogeneity. We show evidence that loss of function might also conform to the inactivation model of a classic tumor-suppressor gene and present data that adds to the clinically relevant discussion about the existence of a -breast cancer phenotype.

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hal-00478320 , version 1 (30-04-2010)

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María J. García, Victoria Fernández, Ana Osorio, Alicia Barroso, Gemma Llort, et al.. Analysis of and Fanconi Anemia genes in -negative Spanish breast cancer families. Breast Cancer Research and Treatment, 2008, 113 (3), pp.545-551. ⟨10.1007/s10549-008-9945-0⟩. ⟨hal-00478320⟩

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