Mutation analysis of the BRCA2 gene in breast/ovarian cancer Spanish families: identification of two new mutations.
The recently isolated gene BRCA2 is responsible for about 45% of familial breast cancer and the majority of male breast cancer families. We have screened 12 high risk breast/ovarian Spanish families for mutations in BRCA2, using SSCP followed by direct sequencing. We have found mutations in four of our 12 families (33.3%), including two with male breast cancer. Three of the mutations were frameshift and one was a missense. Two of the mutations have been previously published and two are new mutations.
Osorio
A
A
Department of Genetics, Fundación Jiménez Díaz, Madrid, Spain. fjd_genetica@jet.es
Robledo
M
M
San Román
J M
JM
Albertos
J
J
Andrade
J
J
Barabash
A
A
Benítez
J
J
D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D018567:Breast Neoplasms, Male / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D019398:Genes, BRCA1; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012307:Risk Factors; D013030:Spain