Identification of a founder BRCA2 mutation in Sardinia. Pisano, M.; Cossu, A.; Persico, I.; Palmieri, G.; Angius, A.; Casu, G.; Palomba, G.; Sarobba, M., G.; Rocca, P., C.; Dedola, M., F.; Olmeo, N.; Pasca, A.; Budroni, M.; Marras, V.; Pisano, A.; Farris, A.; Massarelli, G.; Pirastu, M.; and Tanda, F. Br J Cancer, 82(3):553-9., 2000.
Identification of a founder BRCA2 mutation in Sardinia [pdf]Paper  abstract   bibtex   
Sardinian population can be instrumental in defining the molecular basis of cancer, using the identity-by-descent method. We selected seven Sardinian breast cancer families originating from the northern-central part of the island with multiple affected members in different generations. We genotyped 106 members of the seven families and 20 control nuclear families with markers flanking BRCA2 locus at 13q12-q13. The detection of a common haplotype shared by four out of seven families (60%) suggests the presence of a founder BRCA2 mutation. Direct sequencing of BRCA2 coding exons of patients carrying the shared haplotype, allowed the identification of a 'frame-shift' mutation at codon 2867 (8765delAG), causing a premature termination-codon. This mutation was found in breast cancer patients as well as one prostate and one bladder cancer patient with shared haplotype. We then investigated the frequency of 8765delAG in the Sardinian breast cancer population by analysing 270 paraffin-embedded normal tissue samples from breast cancer patients. Five patients (1.7%) were found to be positive for the 8765delAG mutation. Discovery of a founder mutation in Sardinia through the identity-by-descent method demonstrates that this approach can be applied successfully to find mutations either for breast cancer or for other types of tumours.
@article{
 title = {Identification of a founder BRCA2 mutation in Sardinia},
 type = {article},
 year = {2000},
 identifiers = {[object Object]},
 keywords = {*Founder Effect,*Mutation,BRCA2 Protein,Base Sequence,Breast Neoplasms/*genetics,DNA Primers,Female,Human,Male,Neoplasm Proteins/*genetics,Pedigree,Support, Non-U.S. Gov't,Transcription Factors/*genetics},
 pages = {553-9.},
 volume = {82},
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 abstract = {Sardinian population can be instrumental in defining the molecular basis of cancer, using the identity-by-descent method. We selected seven Sardinian breast cancer families originating from the northern-central part of the island with multiple affected members in different generations. We genotyped 106 members of the seven families and 20 control nuclear families with markers flanking BRCA2 locus at 13q12-q13. The detection of a common haplotype shared by four out of seven families (60%) suggests the presence of a founder BRCA2 mutation. Direct sequencing of BRCA2 coding exons of patients carrying the shared haplotype, allowed the identification of a 'frame-shift' mutation at codon 2867 (8765delAG), causing a premature termination-codon. This mutation was found in breast cancer patients as well as one prostate and one bladder cancer patient with shared haplotype. We then investigated the frequency of 8765delAG in the Sardinian breast cancer population by analysing 270 paraffin-embedded normal tissue samples from breast cancer patients. Five patients (1.7%) were found to be positive for the 8765delAG mutation. Discovery of a founder mutation in Sardinia through the identity-by-descent method demonstrates that this approach can be applied successfully to find mutations either for breast cancer or for other types of tumours.},
 bibtype = {article},
 author = {Pisano, M and Cossu, A and Persico, I and Palmieri, G and Angius, A and Casu, G and Palomba, G and Sarobba, M G and Rocca, P C and Dedola, M F and Olmeo, N and Pasca, A and Budroni, M and Marras, V and Pisano, A and Farris, A and Massarelli, G and Pirastu, M and Tanda, F},
 journal = {Br J Cancer},
 number = {3}
}
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