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Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort

Permanent link
https://hdl.handle.net/10037/10579
DOI
https://doi.org/10.1007/s10689-016-9916-2
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Date
2016-08-05
Type
Journal article
Tidsskriftartikkel
Peer reviewed

Author
Jarhelle, Elisabeth; Stensland, Hilde Monica Frostad Riise; Mæhle, Lovise Olaug; Van Ghelue, Marijke
Abstract
Germline mutations in BRCA1 and BRCA2 cause hereditary breast and ovarian cancer. Molecular screening of these two genes in patients with a family history of breast or ovarian cancer has revealed pathogenic variants as well as genetic variants of unknown significance (VUS). These VUS may cause a challenge in the genetic counseling process regarding clinical management of the patient and the family. We investigated 32 variants previously detected in 33 samples from patients with a family history of breast or ovarian cancer. cDNA was analyzed for alternative transcripts and selected missense variants located in the BRCT domains of BRCA1 were assessed for their trans-activation ability. Although an extensive cDNA analysis was done, only three of the 32 variants appeared to affect the splice-process (BRCA1 c.213-5T>A, BRCA1 c.5434C>G and BRCA2 c.68-7T>A). In addition, two variants located in the BRCT domains of BRCA1 (c.5075A>C p.Asp1692Ala and c.5513T>G p.Val1838Gly) were shown to abolish the BRCT domain trans-activation ability, whereas BRCA1 c.5125G>A p.Gly1709Arg exhibited equal trans-activation capability as the WT domain. These functional studies may offer further insights into the pathogenicity of certain identified variants; however, this assay is only applicable for a subset of missense variants.
Description
Manuscript. Published version available in Familial Cancer, Jan. 2017, vol. 16, issue 1, pp 1–16
Publisher
Springer
Citation
Jarhelle, E., Riise Stensland, H.M.F., Mæhle, L. et al. Familial Cancer (2017) 16: 1. doi:10.1007/s10689-016-9916-2
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