Identification of a founder BRCA2 mutation in Sardinia

  title={Identification of a founder BRCA2 mutation in Sardinia},
  author={Marina Pisano and Antonio Cossu and I Persico and Giuseppe Palmieri and Andrea Angius and Giovanni Casu and Grazia Palomba and Maria Giuseppa Sarobba and Patrizia Rocca and Maria Filomena Dedola and N A Olmeo and Anna Pasca and Mario Budroni and Vladimiro Marras and A. P. Pisano and Antonio Farris and Giovannino Massarelli and Mario Pirastu and Francesco Tanda},
  journal={British Journal of Cancer},
  pages={553 - 559}
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… CONTINUE READING


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