Author/Editor		Novaković, Srdjan; Stegel, Vida
Title		Detection of mutations in BRCA 1 gene by melting curve analysis of PCR products
Translated title		Analiza talitvene krivulje produktov PCR kot metoda za odkrivanje mutacij v genu BRCA 1
Type		članek
Source		In: Luzar B, Poljak M, Glavač D, et al, editors. Molekularna diagnostika v medicini. Zbornik 15. spominsko srečanje akademika Janeza Milčinskega, 36. memorialni sestanek profesorja Janeza Plečnika, 1. srečanje Slovenskega društva za humano genetiko z mednarodno udeležbo; 2005 30 nov - 2 dec; Ljubljana. Ljubljana: Medicinska fakulteta,
Publication year		2005
Volume		str. 127-33
Language		eng
Abstract		BRCA1 and BRCA2 mutations are associated with the early-onset of breast cancer and, consequently, some experts advocate aggressive screening of affected persons. The inclusion of patients and their relatives into the process of genetic screening is complicated by the technical complexity of the test, the substantial cost and a still incomplete understanding of the penetrance of the disease in known mutation carriers. In this article, data are presented for the detection of five mutations in the BRCA1 gene in breast cancer patients and their relatives. The mutations1806C>T, 300T>G, 300T>A, 310G>A, 5382insC - were determined using real-time PCR and melting curve analysis. In comparison with direct sequencing, this method was shown to be sensitive and rapid enough for daily routine determination of mutations in DNA isolated from peripheral blood
Descriptors		BREAST NEOPLASMS GENES, BRCA1 MUTATION POLYMERASE CHAIN REACTION