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Molecular analysis of the BRCA2 gene in 16 breast/ovarian cancer Spanish families
Author(s) -
Osorio Ana,
Robledo Mercedes,
Martínez Beatriz,
Cebrián Arancha,
Román Juan Manuel San,
Albertos Jose,
Lobo Francisco,
Benitez Javier
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb03717.x
Subject(s) - breast cancer , genetics , mutation , ovarian cancer , biology , haplotype , gene , coding region , single strand conformation polymorphism , population , cancer , medicine , genotype , environmental health
The recent isolated gene BRCA2 is responsible for about 45% of familial breast cancer and the majority of male breast cancer families. In order to evaluate the role of inherited BRCA2 mutations in Spanish families, the complete coding sequence of the gene was screened by SSCP/sequencing in 16 high‐risk breast/ovarian cancer families. Four mutations were found that cause a premature termination codon. Two of them have been reported elsewhere and one is a novel mutation. In addition we have found seven polymorphisms, two of which have not been previously described. One of the mutations, 936delAAAC was found in two of our high‐risk families. Because this mutation is considered as recurrent, we have tried to estimate its frequency in our breast cancer population. A total of 127 moderate‐ high‐risk families were screened for this mutation and it was also found in another high‐risk family. All the families carrying the 936delAAAC mutation harboured part of a common haplotype shared by other reported carriers, suggesting a possible founder effect for this mutation.