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Clinical implicatio...
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Djursby, MaleneCopenhagen University Hospital
(author)
Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer
- Article/chapterEnglish2022
Publisher, publication year, extent ...
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2022-07-29
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Springer Science and Business Media LLC,2022
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LIBRIS-ID:oai:lup.lub.lu.se:9efd61fc-50d3-4b51-b33b-1d2c14df5268
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https://lup.lub.lu.se/record/9efd61fc-50d3-4b51-b33b-1d2c14df5268URI
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https://doi.org/10.1007/s00439-022-02470-9DOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
Notes
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The genetic background of familial, late-onset colorectal cancer (CRC) (i.e., onset > age 50 years) has not been studied as thoroughly as other subgroups of familial CRC, and the proportion of families with a germline genetic predisposition to CRC remains to be defined. To define the contribution of known or suggested CRC predisposition genes to familial late-onset CRC, we analyzed 32 well-established or candidate CRC predisposition genes in 75 families with late-onset CRC. We identified pathogenic or likely pathogenic variants in five patients in MSH6 (n = 1), MUTYH (monoallelic; n = 2) and NTHL1 (monoallelic; n = 2). In addition, we identified a number of variants of unknown significance in particular in the lower penetrant Lynch syndrome-associated mismatch repair (MMR) gene MSH6 (n = 6). In conclusion, screening using a comprehensive cancer gene panel in families with accumulation of late-onset CRC appears not to have a significant clinical value due to the low level of high-risk pathogenic variants detected. Our data suggest that only patients with abnormal MMR immunohistochemistry (IHC) or microsatellite instability (MSI) analyses, suggestive of Lynch syndrome, or a family history indicating another cancer predisposition syndrome should be prioritized for such genetic evaluations. Variants in MSH6 and MUTYH have previously been proposed to be involved in digenic or oligogenic hereditary predisposition to CRC. Accumulation of variants in MSH6 and monoallelic, pathogenic variants in MUTYH in our study indicates that digenic or oligogenic inheritance might be involved in late-onset CRC and warrants further studies of complex types of inheritance.
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Hansen, Thomas van OvereemCopenhagen University Hospital
(author)
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Wadt, Karin A.W.Copenhagen University Hospital
(author)
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Madsen, Majbritt BuskCopenhagen University Hospital
(author)
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Berchtold, Lukas AdrianCopenhagen University Hospital
(author)
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Lautrup, Charlotte KvistAarhus University Hospital
(author)
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Markholt, SaraAarhus University Hospital
(author)
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Jensen, Uffe BirkAarhus University Hospital
(author)
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Krogh, Lotte NylandstedOdense University Hospital
(author)
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Lundsgaard, MaleneAalborg University Hospital
(author)
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Gerdes, Anne MarieUniversity of Copenhagen,Copenhagen University Hospital
(author)
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Nilbert, MefLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Hvidovre Hospital(Swepub:lu)onk-mni
(author)
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Therkildsen, ChristinaHvidovre Hospital
(author)
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Copenhagen University HospitalAarhus University Hospital
(creator_code:org_t)
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In:Human Genetics: Springer Science and Business Media LLC141:12, s. 1925-19330340-67171432-1203
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Markholt, Sara
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Human Genetics
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Lund University