A breast cancer patient from Italy with germline mutations in both the BRCA1 and BRCA2 genes.
We report the first case in Italy of a non-Ashkenazi double heterozygote for BRCA1 and BRCA2 genes. This finding is predictably rare, with a maximum frequency of 1/250,000. The proband and her mother were diagnosed with early-onset breast cancer. No other relatives with breast and/or ovarian cancer were observed. The implications of this case in regard to genetic testing and counseling are substantial.
Musolino
Antonino
A
Medical Oncology Unit, University Hospital of Parma, via Gramsci 14, 43100 Parma, Italy. antoninomusolino@hotmail.com
Naldi
Nadia
N
Michiara
Maria
M
Bella
Maria A
MA
Zanelli
Paola
P
Bortesi
Beatrice
B
Capelletti
Marzia
M
Savi
Mario
M
Neri
Tauro M
TM
Ardizzoni
Andrea
A
D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D007558:Italy; D010375:Pedigree