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Grazia Palomba, Marina Pisano, Antonio Cossu, Mario Budroni, Maria F. Dedola, Antonio Farris, Antonio Contu, Paola Baldinu, Francesco Tanda and Giuseppe Palmieri Spectrum and prevalence of BRCA1 and BRCA2 germline mutations in Sardinian patients with breast carcinoma through hospital-based screening Cancer 104

Article first published online: 26 JUL 2005 | DOI: 10.1002/cncr.21298

A clinical evaluation program among Sardinian patients with breast carcinoma was useful in defining indicators (breast carcinoma diagnosis before age 50 yrs, familial recurrence of ovarian carcinoma or male breast carcinoma, or 3 affected generations) of the presence of BRCA1 and BRCA2 germline mutations. The majority of breast carcinoma families remained negative for BRCA1 and BRCA1/BRCA2 mutations, confirming that additional breast carcinoma susceptibility genes must be identified.

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