Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families.
Familial aggregations of breast/ovarian cancer cases frequently depend on BRCA1/2 pathogenic mutations. Here we counselled 120 Italian breast/ovarian cancer families and selected 73 probands for BRCA1/2 mutation screening. Through this analysis we defined the prevalence of BRCA1/2 pathogenic mutations occurring in Italian breast/ovarian cancer families, enlarged the spectrum of Italian BRCA1/2 mutations by 15% and report on the identification of 13 novel variants, including two deleterious truncating mutations and two potentially pathogenic missense mutations, on the BRCA1 and BRCA2 genes. Finally in hereditary breast cancer families with three or more female breast cancer cases we observed a low mutation prevalence and a significant association with BRCA2 mutations.
Giannini
Giuseppe
G
Department of Experimental Medicine and Pathology, University La Sapienza, Policlinico Umberto I Viale Regina Elena, 324, 00161 Rome, Italy. giuseppe.giannini@uniroma1.it
Capalbo
Carlo
C
Ristori
Elisabetta
E
Ricevuto
Enrico
E
Sidoni
Tina
T
Buffone
Amelia
A
Cortesi
Enrico
E
Marchetti
Paolo
P
Scambia
Giovanni
G
Tomao
Silverio
S
Rinaldi
Christian
C
Zani
Massimo
M
Ferraro
Sergio
S
Frati
Luigi
L
Screpanti
Isabella
I
Gulino
Alberto
A
D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D010375:Pedigree; D015995:Prevalence
D019313:BRCA1 Protein; D024682:BRCA2 Protein