Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain.
A frame-shift 9254del5 mutation was independently identified in 12 families, eleven of them with Spanish ancestors, in a BRCA2 screening performed in 841 breast and/or ovarian cancer families and in 339 women with breast cancer diagnosed before the age of 40 at different centers in France and Spain. We sought to analyze in detail the haplotype and founder effects of the 9254del5 and to estimate the time of origin of the mutation. Eight polymorphic microsatellite markers and two BRCA2 polymorphisms were used for the haplotype analyses. The markers were located flanking the BRCA2 gene spanning a region of 6.1 cM. Our results suggest that these families shared a common ancestry with BRCA2 9254del5, which is a founder mutation originating in the Northeast Spanish, with an estimated age of 92 (95% CI 56-141) generations.
Campos
Berta
B
Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Díez
Orland
O
Odefrey
Fabrice
F
Domènech
Montserrat
M
Moncoutier
Virginie
V
Martínez-Ferrandis
José Ignacio
JI
Osorio
Ana
A
Balmaña
Judith
J
Barroso
Alicia
A
Armengod
María Eugenia
ME
Benítez
Javier
J
Alonso
Carmen
C
Stoppa-Lyonnet
Dominique
D
Goldgar
David
D
Baiget
Montserrat
M
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D024682:BRCA2 Protein / Q000235:genetics; D001943:Breast Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D018567:Breast Neoplasms, Male / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D024522:Genes, BRCA2; D005838:Genotype; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D010641:Phenotype; D012008:Recurrence; D013030:Spain / Q000453:epidemiology
D024682:BRCA2 Protein