RT Journal Article
SR Electronic
T1 Elucidation of the Transmission of a Novel Mutation in <em>BRCA1</em> (1125delCT) in a Family with Multiple Cases of Breast Cancer
JF Cancer Genomics - Proteomics
JO Cancer Genomics Proteomics
FD International Institute of Anticancer Research
SP 215
OP 217
VO 6
IS 4
A1 EVANGELIA RAZIS
A1 IOULIA BELOGIANNI
A1 VAGIA SIAMANTA
A1 ANGELA APESSOS
A1 VANESSA KYRIAKOPOULOU
A1 EIRINI PAPADOPOULOU
A1 MAHI SARIYANNI
A1 DIONYSIOS THEOFILOPOULOS
A1 STEFANOS LABROPOULOS
A1 GEORGIOS NASIOULAS
YR 2009
UL http://cgp.iiarjournals.org/content/6/4/215.abstract
AB 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.