Elucidation of the transmission of a novel mutation in BRCA1 (1125delCT) in a family with multiple cases of breast cancer.
In a family with multiple members affected by breast cancer we identified the novel mutation 1125delCT (exon 11) in BRCA1. Three out of three offsprings have the novel mutation while the mother affected by breast cancer does not carry the mutation. Linkage analysis revealed the transmission of the healthy haplotype from the mother to the three offsprings while the children inherited the mutated haplotype from the father. Our data document in an unquestionable way where the mutated haplotype was inherited from. In some families, although the transmission pathway seems obvious, the molecular analysis yields surprising results.
Razis
Evangelia
E
First Department of Medical Oncology, DTCA HYGEIA, 15123 Maroussi, Athens.
Belogianni
Ioulia
I
Siamanta
Vagia
V
Apessos
Angela
A
Kyriakopoulou
Vanessa
V
Papadopoulou
Eirini
E
Sariyanni
Mahi
M
Theofilopoulos
Dionysios
D
Labropoulos
Stefanos
S
Nasioulas
Georgios
G
D000369:Aged, 80 and over; D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
D019313:BRCA1 Protein