BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy.
We report on the screening of the entire BRCA1/BRCA2 coding sequence by SSCP, PTT, and direct sequencing in 68 Italian families with recurrent breast or ovarian cancer. For each investigated proband, the probability of being carrier of a BRCA1/BRCA2 mutation was evaluated using the BRCAPRO software. We detected BRCA1/BRCA2 mutations in 8 patients (11.7%). However, if considering only patients with a carrier probability >10%, the detection rate was 36.8%, confirming the usefulness of the BRCAPRO software. One change (BRCA1 4172insT) was a novel mutation not reported in BIC database.
Stuppia
L
L
Dipartimenti di Scienze Biomediche, Università "G. D'Annunzio", Chieti, Italy.
Di Fulvio
P
P
Aceto
G
G
Pintor
S
S
Veschi
S
S
Gatta
V
V
Colosimo
A
A
Cianchetti
E
E
Cama
A
A
Mariani-Costantini
R
R
Battista
P
P
Palka
G
G
D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D018567:Breast Neoplasms, Male / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics*