Broadening risk profile in familial colorectal cancer type X; increased risk for five cancer types in the national Danish cohort
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Broadening risk profile in familial colorectal cancer type X; increased risk for five cancer types in the national Danish cohort. / Therkildsen, Christina; Rasmussen, Maria; Smith-Hansen, Lars; Kallemose, Thomas; Lindberg, Lars Joachim; Nilbert, Mef.
In: BMC Cancer, Vol. 20, No. 1, 345, 22.04.2020.Research output: Contribution to journal › Journal article › Research › peer-review
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T1 - Broadening risk profile in familial colorectal cancer type X; increased risk for five cancer types in the national Danish cohort
AU - Therkildsen, Christina
AU - Rasmussen, Maria
AU - Smith-Hansen, Lars
AU - Kallemose, Thomas
AU - Lindberg, Lars Joachim
AU - Nilbert, Mef
PY - 2020/4/22
Y1 - 2020/4/22
N2 - 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.
AB - 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.
U2 - 10.1186/s12885-020-06859-5
DO - 10.1186/s12885-020-06859-5
M3 - Journal article
C2 - 32321466
VL - 20
JO - B M C Cancer
JF - B M C Cancer
SN - 1471-2407
IS - 1
M1 - 345
ER -
ID: 250822495