Dataset Information

Broadening risk profile in familial colorectal cancer type X; increased risk for five cancer types in the national Danish cohort.

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 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.

SUBMITTER: Therkildsen C

PROVIDER: S-EPMC7179001 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature

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Publications

Broadening risk profile in familial colorectal cancer type X; increased risk for five cancer types in the national Danish cohort.

Therkildsen Christina C Rasmussen Maria M Smith-Hansen Lars L Kallemose Thomas T Lindberg Lars Joachim LJ Nilbert Mef M

BMC cancer 20200422 1

<h4>Background</h4>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.<h4>Methods</h4>Through the national hereditary non-polyposis colorectal cancer (HNPCC) register, 213 families fulfilling the Amsterdam ...[more]

PMID: 32321466

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Dataset Information

Broadening risk profile in familial colorectal cancer type X; increased risk for five cancer types in the national Danish cohort.

Background

Methods

Results

Conclusions

Publications

Broadening risk profile in familial colorectal cancer type X; increased risk for five cancer types in the national Danish cohort.

Similar Datasets

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