Elucidation of the Transmission of a Novel Mutation in BRCA1 (1125delCT) in a Family with Multiple Cases of Breast Cancer

Cancer Genomics - Proteomics

EVANGELIA RAZIS²  MAHI SARIYANNI¹  GEORGIOS NASIOULAS¹  VANESSA KYRIAKOPOULOU¹  EIRINI PAPADOPOULOU¹  DIONYSIOS THEOFILOPOULOS¹  IOULIA BELOGIANNI¹  STEFANOS LABROPOULOS²  VAGIA SIAMANTA¹  ANGELA APESSOS¹ 

[1] eneKor S.A. - Center of Research and Analysis of Genetic Material, 45 Lavriou Ave., Glyka Nera, 15354, Athens, GreeceeneKor S.A. - Center of Research and Analysis of Genetic Material, 45 Lavriou Ave., Glyka Nera, 15354, Athens, GreeceeneKor S.A. - Center of Research and Analysis of Genetic Material, 45 Lavriou Ave., Glyka Nera, 15354, Athens, Greece;irst Department of Medical Oncology, DTCA HYGEIA, 15123 Maroussi, Athensirst Department of Medical Oncology, DTCA HYGEIA, 15123 Maroussi, Athensirst Department of Medical Oncology, DTCA HYGEIA, 15123 Maroussi, Athens

关键词: Hereditary;    breast cancer;    BRCA1;    mutation;    haplotype;   

DOI  :  

来源: Delinasios GJ CO

【 摘 要 】

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.

【 授权许可】

Unknown