Show simple item record

dc.contributor.advisorVan Ghelue, Marijke
dc.contributor.authorJarhelle, Elisabeth
dc.date.accessioned2015-05-15T12:37:02Z
dc.date.available2015-05-15T12:37:02Z
dc.date.issued2013-05-15
dc.description.abstractHomologous recombination repair (HRR) is an important repair mechanism, and mutations disrupting the function of this machinery might contribute to cancer formation. Several proteins interact in this mechanism, and the two best known are BRCA1 and BRCA2. Mutations in their corresponding genes BRCA1 and BRCA2 are found in 40% of hereditary breast and ovarian cancer cases. However, there are still mutations found in these genes that are classified as variants of unknown clinical significance (VUS). Some of these variants identified in Norwegian individuals were further investigated in this study by PCR amplification of cDNA and subsequent sequencing. In addition the PALB2 gene was screened for mutations, since the encoded protein is essential in the co-localization of BRCA1 and BRCA2 in the repair machinery and mutations in PALB2 have been reported to be associated with hereditary breast and ovarian cancer. In total, 43 patients from a Norwegian cancer population were screened for mutations in PALB2 by the use of M13 tagged sequencing primers. However, no obvious pathogenic variants were detected. Nineteen individuals with BRCA1 VUS and 18 individuals with BRCA2 VUS from families with hereditary breast/ovarian cancer were investigated for the expression of both alleles in lymphocytes as well as for possible effects on RNA splicing. All possible detectable alleles were expressed in lymphocytes and three of the variants, BRCA1 c.213-5T>A, BRCA1 c.5434C>G and BRCA2 c.68-7T>A were shown to influence splicing during mRNA processing. In addition, 4 different normal alternatively spliced transcripts were identified in BRCA1 and BRCA2.en_US
dc.identifier.urihttps://hdl.handle.net/10037/7687
dc.identifier.urnURN:NBN:no-uit_munin_7276
dc.language.isoengen_US
dc.publisherUniversitetet i Tromsøen_US
dc.publisherUniversity of Tromsøen_US
dc.rights.accessRightsopenAccess
dc.rights.holderCopyright 2013 The Author(s)
dc.subject.courseIDMBI-3911en_US
dc.subjecthereditary breast ovarian cancer BRCA1 BRCA2 PALB2en_US
dc.subjectVDP::Medisinske Fag: 700en_US
dc.subjectVDP::Medical disciplines: 700en_US
dc.subjectVDP::Medisinske Fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710::Medisinsk genetikk: 714en_US
dc.subjectVDP::Medical disciplines: 700::Basic medical, dental and veterinary science disciplines: 710::Medical genetics: 714en_US
dc.titleA study of possible genetic causes of inherited breast and ovarian cancer in a Norwegian cancer populationen_US
dc.typeMaster thesisen_US
dc.typeMastergradsoppgaveen_US


File(s) in this item

Thumbnail
Thumbnail

This item appears in the following collection(s)

Show simple item record