Naslov
BRCA1 and BRCA2 variants detected with Quantitative Multiplex PCR (QMP)

Autori
Musani, Vesna ; Levačić Cvok, Mirela ; Car, Diana ; Ozretić, Petar ; Sabol, Maja ; Levanat, Sonja

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
HDIR-1 „From Bench to Clinic“ : book of abstracts of the First meeting of the Croatian Association for Cancer Research with international participation / Sabol, Maja ; Levanat, Sonja - Zagreb : Hrvatsko društvo za istraživanje raka (HDIR), 2010, 29-29

Skup
HDIR-1 : First Meeting with International Participation: "From Bench to Clinic"

Mjesto i datum
Zagreb, Hrvatska, 11.11.2010

Vrsta sudjelovanja
Poster

Vrsta recenzije
Domaća recenzija

Ključne riječi
BRCA1 ; BRCA2 ; mutation detection

Sažetak
Germline mutations in the tumor suppressor genes BRCA1 and BRCA2 predispose to hereditary breast and ovarian cancer. BRCA1 and BRCA2 are involved in a variety of cellular processes, including maintenance of genome stability, DNA repair via homologous recombination, transcriptional regulation, cell cycle control, chromatin remodeling and ubiquitinylation. Mutation are scattered throughout both genes and includes disease-causing mutations as well as unclassified variants. Most reported germline mutations are located in the coding regions of BRCA1 and BRCA2 and represent single nucleotide substitutions and small deletions and insertions, but also large genomic rearrangements. To detect such large deletions or duplications encopassing one or several exons we developed a semi-quantitative multiplex PCR method (QMP). All BRCA1 and BRCA2 exons are amplified in three multiplex reactions and analized on ABI Prism 310 Genetic Analyzer. The method also showed itself to be an easy and quick method to detect small deletions and insertions. Out of 110 patients, in three cases we found insertions ; two in BRCA1 (IVS19+67dupC and 5266dupC) and one in BRCA2 (6869dupC). The results indicate that QMP can be useful tool for mutation analysis of BRCA1 and BRCA2 not only for large rearrangements, but also for small indels. QMP lends itself to rapid, sensitive and cost effective search for mutations in BRCA1 and BRCA2 genes and may be included into the routine molecular analysis of breast-ovarian cancer predisposition.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

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