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Now showing items 1-10 of 12
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)
Background
The genetic mechanisms for families who meet the clinical criteria for Lynch syndrome (LS) but do not carry pathogenic variants in the mismatch repair (MMR) genes are still undetermined. We aimed ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2017)
Background
We have previously reported a high incidence of colorectal cancer (CRC) in carriers of pathogenic MLH1 variants (path_MLH1) despite follow-up with colonoscopy including polypectomy.
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(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2022)
Objective
To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC cohorts, of which only the former included mandatory colonoscopy surveillance ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)
Background
In kindreds carrying path_BRCA1/2 variants, some women in these families will develop cancer despite testing negative for the family’s pathogenic variant. These families may have additional ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2017)
Objective: Today most patients with Lynch syndrome (LS) survive their first cancer. There is limited information on the incidences and outcome of subsequent cancers. The present study addresses three questions: (i) what ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2019)
Background
We previously reported that in pathogenic mismatch repair (path_MMR) variant carriers, the incidence of colorectal cancer (CRC) was not reduced when colonoscopy was undertaken more frequently ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)
Background Most patients with path_MMR gene variants (Lynch syndrome (LS)) now survive both their first and subsequent cancers, resulting in a growing number of older patients with LS for whom limited information exists ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2022)
Background: Genetic testing for hereditary cancers is inconsistently applied within the healthcare systems in Latin America. In Peru, the prevalence and spectrum of cancer-predisposing germline variants is thus poorly ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2019)
We have surveyed 191 prospectively sampled familial cancer patients with no previously detected pathogenic variant in the BRCA1/2, PTEN, TP53 or DNA mismatch repair genes. In all, 138 breast cancer (BC) cases, 34 colorectal ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2021)
The value of high-throughput germline genetic testing is increasingly recognized inclinical cancer care. Disease-associated germline variants in cancer patients areimportant for risk management and surveillance, surgical ...