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Broadening risk pro...
Broadening risk profile in familial colorectal cancer type X; Increased risk for five cancer types in the national Danish cohort
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- Therkildsen, Christina (author)
- Copenhagen University Hospital
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- Rasmussen, Maria (author)
- Copenhagen University Hospital
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- Smith-Hansen, Lars (author)
- Copenhagen University Hospital
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- Kallemose, Thomas (author)
- Copenhagen University Hospital
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- Lindberg, Lars Joachim (author)
- University of Copenhagen,Copenhagen University Hospital
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- Nilbert, Mef (author)
- 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,Danish Cancer Society,Copenhagen University Hospital
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(creator_code:org_t)
- 2020-04-22
- 2020
- English.
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In: BMC Cancer. - : Springer Science and Business Media LLC. - 1471-2407. ; 20:1
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Abstract
Subject headings
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- Background: Familial colorectal cancer type X (FCCTX) is a phenotypically defined subset of hereditary colorectal cancer with unknown and potentially heterogeneous genetic aetiology. FCCTX has been characterized as a colorectal cancer-specific syndrome, which we herein challenge by estimating the risk for extra-colorectal cancer in the Danish FCCTX cohort. Methods: Through the national hereditary non-polyposis colorectal cancer (HNPCC) register, 213 families fulfilling the Amsterdam I criteria and showing retained mismatch repair (MMR) function were identified. In here, sex and age-specific incidence rate ratios (IRR) were calculated for 30 extra-colorectal cancer types in comparison with the general Danish population. Results: In total, 494 extra-colorectal cancers developed with significantly increased risks for cancers of the urinary tract, breast, stomach, pancreas, and eye tumours. The age groups at increased risks were 30-49 years for gastric cancer, 30-69 years for female breast cancer, 50-69 years for ocular melanoma and above age 70 for pancreatic cancer and urothelial cancer. Conclusions: Danish FCCTX families show an increased risk of several extra-colorectal cancer types. This observation may indicate unidentified disease-predisposing genetic variants in this phenotypically defined subset of hereditary colorectal cancer and calls for awareness during genetic counselling and follow-up.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Keyword
- Amsterdam I criteria
- Cancer syndrome
- Hereditary cancer
- Mismatch repair proficient
- Tumour spectrum
Publication and Content Type
- art (subject category)
- ref (subject category)
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