A novel BRCA2 mutation that segregates with breast and prostate cancer in a Spanish family.
We report a novel germline 5369delATTT mutation in BRCA2 gene, detected in a 45-year-old woman with bilateral breast cancer. This deletion was also detected in her father with prostatic cancer and her sister with breast cancer. The mutation originates a premature stop at codon 1723 of BRCA2 protein and has not been documented in any published report to the best of our knowledge.
Salgado
Josefa
J
Clinical Genetics Unit, University Clinic of Navarra (CUN), Pamplona, Navarra, Spain. jsalgadog@unav.es
Aramendía
José M
JM
Gutierrez
Cristina
C
Gil
Carmen
C
Robles
Maitane
M
García-Foncillas
Jesús
J
D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics; D010375:Pedigree; D011471:Prostatic Neoplasms / Q000235:genetics*; D013030:Spain