Avtor/Urednik		Novaković, Srdjan; Milatovič, Maša; Cerkovnik, Petra; Stegel, Vida; Krajc, Mateja; Hočevar, Marko; Žgajnar, Janez; Vakselj, Aleš
Naslov		Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families
Tip		članek
Vol. in št.		Letnik 41, št. 5
Leto izdaje		2012
Obseg		str. 1619-1627
ISSN		1019-6439 - International journal of oncology
Jezik		eng
Abstrakt		The estimated proportion of hereditary breast and ovarian cancers among all breast and ovarian cancer cases is 5-10%. According to the literature, inherited mutations in the BRCA1 and BRCA2 tumour-suppressor genes, account for the majority of hereditary breast and ovarian cancer cases. The aim of this report is to present novel mutations that have not yet been described in the literature and pathogenic BRCA1 and BRCA2 mutations which have been detected in HBOC families for the first time in the last three years. In the period between January 2009 and December 2011, 559 individuals from 379 families affected with breast and/or ovarian cancer were screened for mutations in the BRCA1 and BRCA2 genes. Three novel mutations were detected: one in BRCA1 - c.1193C>A (p. Ser398*) and two in BRCA2 - c.5101C>T (p. Gln1701*)and c.5433_5436delGGAA (p. Glu1811Aspfs*3). These novel mutations are located in the exons 11 of BRCA1 or BRCA2 and encode truncated proteins. Two of them are nonsense while one is a frameshift mutation. Also, 11 previously known pathogenic mutations were detected for the first time in the HBOC families studied here (three in BRCA1 and eight in BRCA2). All, except one cause premature formation of stop codons leading to truncation of the respective BRCA1 or BRCA2 proteins.
Deskriptorji		Breast neoplasms Ovary neoplasms Mutation Genes, BRCA1 Genes, BRCA2 Genetics Genetics
Proste vsebinske oznake		rak dojke rak jajčnikov mutacije