Outcome of 24 years national surveillance in different hereditary colorectal cancer subgroups leading to more individualised surveillance

Lindberg, Lars Joachim; Ladelund, Steen; Frederiksen, Birgitte; Smith-Hansen, Lars; Bernstein, Inge

doi:10.1136/jmedgenet-2016-104284

Cited by 17 publications

(10 citation statements)

References 27 publications

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“…Moreover, given the lower risk of metachronous CRCs and longer interval between initial and metachronous CRCs in FCCTX, endoscopy can be performed less frequently and in a more individualized schedule. We suggest 5-year surveillance colonoscopies unless findings at the preceding surveillance session indicate the need for a shorter interval ( 18 ).…”

Section: Discussionmentioning

confidence: 99%

“…While other cancers aside from CRC are also frequent in families with LS ( 16 , 17 ), extracolorectal cancers rarely occur in FCCTX families ( 6 , 8 ). An analysis of the long-term outcomes of different hereditary CRC subgroups concluded that less frequent but more individualized surveillance protocols would be beneficial for FCCTX cases ( 18 ). Nevertheless, these findings were derived from Western medical centers, and data in China remain lacking.…”

Section: Introductionmentioning

confidence: 99%

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Comparison Between Familial Colorectal Cancer Type X and Lynch Syndrome: Molecular, Clinical, and Pathological Characteristics and Pedigrees

Liu

Zhang

et al. 2020

Front. Oncol.

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Objective This study aimed to compare the molecular, clinical, and pathological characteristics and pedigrees of familial colorectal cancer type X (FCCTX) with those of Lynch syndrome (LS) to provide a theoretical basis for the management of FCCTX. Methods Overall, 46 cases of FCCTX and 47 LS probands and affected families were enrolled between June 2008 and September 2018 for this study. Multigene cancer panel tests that included 139 genes were performed for all patients, and variants in each group were described. The clinical, pathological, and pedigree characteristics were also compared between the two groups. Results In total, 42 variants were detected in 27 (58.7%) cases in the FCCTX group, with BRCA1 , BRCA2 , POLE , POLD1 , ATR , and ATM being the most frequently mutated genes. The mean onset age of colorectal cancer (CRC) was significantly older in the FCCTX group than in the LS group (53.57 ± 12.88 years vs. 44.36 ± 11.26 years, t = −9.204, p < 0.001). The proportion of patients with rectal cancer was also higher in the FCCTX group than in the LS group [43.5% (20/46) vs. 10.6% (5/47), χ 2 = 12.823, p = 0.005]. Within a median follow-up time of 53.9 ± 37.0 months, the proportion of patients who developed metachronous CRC was significantly higher in the LS group than in the FCCTX group [34.0% (16/47) vs. 13.0% (6/46), χ 2 = 5.676, p = 0.017]. When comparing pedigrees, older age at cancer onset and rectal cancer clustering were observed in the FCCTX families. A higher prevalence in male patients was also observed in the FCCTX families. Conclusion FCCTX is an entity distinct from LS, but its genetic etiology remains unknown. A larger multigene panel would be recommended for determining the underlying pathogenic variants. Considering the pathology and moderate penetrance of the CRC link to FCCTX, less stringent surgical treatments and colonoscopy surveillance would be preferable. Rectum preference is a typical feature of FCCTX. Colonoscopy surveillance in FCCTX families could be less intensive, and more attention should be given to male members.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Comparison Between Familial Colorectal Cancer Type X and Lynch Syndrome: Molecular, Clinical, and Pathological Characteristics and Pedigrees

Liu

Zhang

et al. 2020

Front. Oncol.

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“…Families have been included based on a suspicious family history of colorectal cancer, fulfilment of the Amsterdam I or II criteria [38], or identification of diseasepredisposing variants in genes linked to hereditary colorectal cancer. Based on family history, the register subclassifies families according to genotypic and phenotypic subsets [20]. The Danish HNPCC register identifies all family members in the Danish Civil Registration System, regardless of cancer history, based on data collected from clinical files and health care registers.…”

Section: Methodsmentioning

confidence: 99%

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

et al. 2020

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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.

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“…Families have been included based on a suspicious family history of colorectal cancer, fulfilment of the Amsterdam I or II criteria (Vasen et al, 2013), or identification of disease-predisposing variants in genes linked to hereditary colorectal cancer. Based on family history, the register subclassifies families according to genotypic and phenotypic subsets (Lindberg et al, 2017). The Danish HNPCC register identifies all family members in the Danish Civil Registration System, regardless of cancer history, based on data collected from clinical files and health care registers.…”

Section: Methodsmentioning

confidence: 99%

Broadening Risk Profile in Familial Colorectal Cancer Type X; increased risk for five cancer types in the national Danish cohort

Therkildsen

Rasmussen

Smith-Hansen

et al. 2020

Preprint

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Outcome of 24 years national surveillance in different hereditary colorectal cancer subgroups leading to more individualised surveillance

Cited by 17 publications

References 27 publications

Comparison Between Familial Colorectal Cancer Type X and Lynch Syndrome: Molecular, Clinical, and Pathological Characteristics and Pedigrees

Comparison Between Familial Colorectal Cancer Type X and Lynch Syndrome: Molecular, Clinical, and Pathological Characteristics and Pedigrees

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

Broadening Risk Profile in Familial Colorectal Cancer Type X; increased risk for five cancer types in the national Danish cohort

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