scholarly journals Adenoma and colorectal cancer risks in Lynch syndrome, Lynch‐like syndrome and familial colorectal cancer type X

2021 ◽  
Author(s):  
Karolin Bucksch ◽  
Silke Zachariae ◽  
Aysel Ahadova ◽  
Stefan Aretz ◽  
Reinhard Büttner ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Cancer Type ◽  
Cancer Risks ◽  
Familial Colorectal Cancer

scholarly journals Characterisation of Familial Colorectal Cancer Type X, Lynch syndrome, and non-familial colorectal cancer

2014 ◽  
Vol 111 (3) ◽  
pp. 598-602 ◽  
Author(s):  
S Shiovitz ◽  
◽  
W K Copeland ◽  
M N Passarelli ◽  
A N Burnett-Hartman ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Cancer Type ◽  
Familial Colorectal Cancer

Presence of familial colorectal cancer type X in families fulfilling Amsterdam criteria for Lynch syndrome in southern Brazil.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. e12546-e12546
Author(s):  
Patricia Ashton-Prolla ◽  
Naye Balzan Schneider ◽  
Cristina Netto ◽  
Silvia Liliana Cossio ◽  
Patricia Koehler-Santos ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Cancer Genetics ◽  
Hereditary Colorectal Cancer ◽  
Cancer Type ◽  
Southern Brazil ◽  
Familial Colorectal Cancer ◽  
Nuclear Expression ◽  
Amsterdam Criteria ◽  
Mmr Deficiency

e12546 Background: The clinical diagnosis of Lynch syndrome is usually established when a family fulfills the Amsterdam Criteria, and confirmed by identification of MMR deficiency and/or germline mutations in one of the MMR genes. In a subset of families with Amsterdam criteria, no evidence of DNA mismatch repair deficiency can be identified and this clinical entity has been designated “Familial Colorectal Cancer Type X (FCCTX)”. Methods: The prevalence of MMR deficiency was assessed in a group of 25 individuals with colorectal or endometrial cancer from 20 families fulfilling Amsterdam criteria in Southern Brazil. MMR deficiency was assessed by IHC testing using a panel of antibodies against MSH2, MLH1, MSH6, and PMS2. In cases showing loss of nuclear expression of MLH1, presence of the BRAF p.V600E mutation and microsatellite instability were assessed in the tumor. Results: Fourteen of the 20 families studied fulfilled Amsterdam II criteria. MMR deficiency was identified in the tumor of 11 index cases and in the remaining 9, nuclear expression of all four MMR proteins was normal, suggesting the diagnosis of FCCTX. This FCCTX phenotype was observed in both Amsterdam I and Amsterdam II families. CRC with MMR-deficiency was diagnosed at an earlier age (41.2 years) than CRC showing MMR proficiency (47.2 years), although the difference did not reach significance. Conclusions: FCCTX is a frequent differential diagnosis in hereditary colorectal cancer in patients presenting to high risk cancer genetics clinics in Southern Brazil and further molecular characterization of hereditary colorectal cancer families with these features is warranted.

scholarly journals Risks of Colorectal Cancer and Cancer-Related Mortality in Familial Colorectal Cancer Type X and Lynch Syndrome Families

2018 ◽  
Vol 111 (7) ◽  
pp. 675-683 ◽  
Author(s):  
Yun-Hee Choi ◽  
Lajmi Lakhal-Chaieb ◽  
Agnieszka Kröl ◽  
Bing Yu ◽  
Daniel Buchanan ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Disease Free Survival ◽  
Cancer Type ◽  
Familial Colorectal Cancer ◽  
Free Survival ◽  
Colon Cancer Family Registry ◽  
Risk Of Cancer ◽  
Disease Free ◽  
Related Mortality

Abstract Background The risk of cancers is well characterized in Lynch syndrome (LS) families but has been less studied in familial colorectal cancer type X (FCCTX) families. Methods In this article, we compare the risk estimates of first and second colorectal cancers (CRCs) in 168 FCTTX and 780 LS families recruited through the Colon Cancer Family Registry as well as the risk of cancer-related deaths and disease-free survival (DFS) after a first CRC. Our methodology is based on a survival analysis approach, developed specifically to model the occurrence of successive cancers (ie, first and second CRCs) in the presence of competing risk events (ie, death from any causes). Results We found an excess risk of first and second CRC in individuals with LS compared to FCCTX family members. However, for an average age at first CRC of 60 years in FCCTX families and 50 years in LS families, the DFS rates were comparable in men but lower in women from FCCTX vs LS families, eg , 75.1% (95% confidence interval [CI] = 69.0% to 80.9%) vs 78.9% (95% CI = 76.3% to 81.3%) for the 10-year DFS. The 10-year risk of cancer-related death was higher in FCCTX families vs LS families, eg, 15.4% in men (95% CI = 10.9% to 19.8%) and 19.3% in women (95% CI = 13.6% to 24.7%) vs 8.9% (95% CI = 7.5% to 11.4%) and 8.7% (95% CI = 7.1% to 10.8%), respectively. Conclusions Individuals with CRCs arising in the context of FCCTX do not experience the same improved DFS and overall survival of those with LS, and that difference may be relevant in management decisions.

scholarly journals Distinct gene expression signatures in Lynch syndrome and familial colorectal cancer type X

2013 ◽  
Vol 7 (S2) ◽  
Author(s):  
Mev Dominguez Valentin ◽  
Cristina Therkildsen ◽  
Srinivas Veerla ◽  
Mats Jönsson ◽  
Inge Bernstein ◽  
...  
Keyword(s):  
Gene Expression ◽  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Cancer Type ◽  
Familial Colorectal Cancer ◽  
Distinct Gene ◽  
Gene Expression Signatures

scholarly journals Differential expression of CK20, β-catenin, and MUC2/5AC/6 in Lynch syndrome and familial colorectal cancer type X

2017 ◽  
Vol 17 (1) ◽  
Author(s):  
Stefan Haraldsson ◽  
Louise Klarskov ◽  
Mef Nilbert ◽  
Inge Bernstein ◽  
Jesper Bonde ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Differential Expression ◽  
Cancer Type ◽  
Familial Colorectal Cancer

scholarly journals Distinct Gene Expression Signatures in Lynch Syndrome and Familial Colorectal Cancer Type X

PLoS ONE ◽  
2013 ◽  
Vol 8 (8) ◽  
pp. e71755 ◽  
Author(s):  
Mev Dominguez-Valentin ◽  
Christina Therkildsen ◽  
Srinivas Veerla ◽  
Mats Jönsson ◽  
Inge Bernstein ◽  
...  
Keyword(s):  
Gene Expression ◽  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Cancer Type ◽  
Familial Colorectal Cancer ◽  
Distinct Gene ◽  
Gene Expression Signatures
Sign in / Sign up

Export Citation Format

Share Document