Broadening risk profile in familial colorectal cancer type X; Increased risk for five cancer types in the national Danish cohort
(2020) In BMC Cancer 20(1).- Abstract
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... (More)
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.
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- author
- Therkildsen, Christina LU ; Rasmussen, Maria ; Smith-Hansen, Lars ; Kallemose, Thomas ; Lindberg, Lars Joachim and Nilbert, Mef LU
- organization
- publishing date
- 2020-04-22
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Amsterdam I criteria, Cancer syndrome, Hereditary cancer, Mismatch repair proficient, Tumour spectrum
- in
- BMC Cancer
- volume
- 20
- issue
- 1
- article number
- 345
- publisher
- BioMed Central (BMC)
- external identifiers
-
- pmid:32321466
- scopus:85083949428
- ISSN
- 1471-2407
- DOI
- 10.1186/s12885-020-06859-5
- language
- English
- LU publication?
- yes
- id
- cf95261f-7ab3-481c-b23f-af44beb2f009
- date added to LUP
- 2020-05-20 08:41:24
- date last changed
- 2024-09-18 23:14:08
@article{cf95261f-7ab3-481c-b23f-af44beb2f009, abstract = {{<p>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.</p>}}, author = {{Therkildsen, Christina and Rasmussen, Maria and Smith-Hansen, Lars and Kallemose, Thomas and Lindberg, Lars Joachim and Nilbert, Mef}}, issn = {{1471-2407}}, keywords = {{Amsterdam I criteria; Cancer syndrome; Hereditary cancer; Mismatch repair proficient; Tumour spectrum}}, language = {{eng}}, month = {{04}}, number = {{1}}, publisher = {{BioMed Central (BMC)}}, series = {{BMC Cancer}}, title = {{Broadening risk profile in familial colorectal cancer type X; Increased risk for five cancer types in the national Danish cohort}}, url = {{http://dx.doi.org/10.1186/s12885-020-06859-5}}, doi = {{10.1186/s12885-020-06859-5}}, volume = {{20}}, year = {{2020}}, }