title: Elucidation of the transmission of a novel mutation in BRCA1 (1125delCT) in a family with multiple cases of breast cancer.
abstract: 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.
authors: First Department of Medical Oncology, DTCA HYGEIA, 15123 Maroussi, Athens.
authors: Evangelia
authors: E
authors: Razis
authors: Ioulia
authors: I
authors: Belogianni
authors: Vagia
authors: V
authors: Siamanta
authors: Angela
authors: A
authors: Apessos
authors: Vanessa
authors: V
authors: Kyriakopoulou
authors: Eirini
authors: E
authors: Papadopoulou
authors: Mahi
authors: M
authors: Sariyanni
authors: Dionysios
authors: D
authors: Theofilopoulos
authors: Stefanos
authors: S
authors: Labropoulos
authors: Georgios
authors: G
authors: Nasioulas
mesh_terms: 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
chemical_list: D019313:BRCA1 Protein