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Clinical implicatio...
Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer
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- Djursby, Malene (författare)
- Copenhagen University Hospital
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- Hansen, Thomas van Overeem (författare)
- Copenhagen University Hospital
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- Wadt, Karin A.W. (författare)
- Copenhagen University Hospital
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- Madsen, Majbritt Busk (författare)
- Copenhagen University Hospital
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- Berchtold, Lukas Adrian (författare)
- Copenhagen University Hospital
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- Lautrup, Charlotte Kvist (författare)
- Aarhus University Hospital
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- Markholt, Sara (författare)
- Aarhus University Hospital
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- Jensen, Uffe Birk (författare)
- Aarhus University Hospital
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- Krogh, Lotte Nylandsted (författare)
- Odense University Hospital
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- Lundsgaard, Malene (författare)
- Aalborg University Hospital
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- Gerdes, Anne Marie (författare)
- University of Copenhagen,Copenhagen University Hospital
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- Nilbert, Mef (författare)
- Lund 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
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- Therkildsen, Christina (författare)
- Hvidovre Hospital
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(creator_code:org_t)
- 2022-07-29
- 2022
- Engelska.
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Ingår i: Human Genetics. - : Springer Science and Business Media LLC. - 0340-6717 .- 1432-1203. ; 141:12, s. 1925-1933
- Relaterad länk:
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
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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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
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Djursby, Malene
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Hansen, Thomas v ...
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Wadt, Karin A.W.
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Madsen, Majbritt ...
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Berchtold, Lukas ...
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Lautrup, Charlot ...
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Markholt, Sara
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Jensen, Uffe Bir ...
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Krogh, Lotte Nyl ...
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Lundsgaard, Male ...
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Gerdes, Anne Mar ...
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Nilbert, Mef
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Therkildsen, Chr ...
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