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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 LU ; Rasmussen, Maria ; Smith-Hansen, Lars ; Kallemose, Thomas ; Lindberg, Lars Joachim and Nilbert, Mef LU (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
; ; ; ; and
organization
publishing date
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
2021-02-17 08:22:43
@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},
  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},
}