Hereditary Colorectal Cancer Review: Colonic Polyposis and Nonpolyposis Colonic Cancer (Lynch Syndrome I and II)

1984 ◽  
Vol 2 (4) ◽  
pp. 244-260 ◽  
Author(s):  
Henry T. Lynch ◽  
Paul Rozen ◽  
Guy S. Schuelke ◽  
Jane F. Lynch
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Colonic Cancer ◽  
Hereditary Colorectal Cancer ◽  
Cancer Review ◽  
Colonic Polyposis

Increasing Lynch Syndrome Identification Through Establishment of a Hereditary Colorectal Cancer Registry

2013 ◽  
Vol 56 (3) ◽  
pp. 308-314 ◽  
Author(s):  
Duveen Sturgeon ◽  
Tonna McCutcheon ◽  
Timothy M. Geiger ◽  
Roberta L. Muldoon ◽  
Alan J. Herline ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Cancer Registry ◽  
Hereditary Colorectal Cancer

NCCN Increases the Emphasis on Genetic/Familial High-Risk Assessment in Colorectal Cancer

2014 ◽  
Vol 12 (5S) ◽  
pp. 829-831 ◽  
Author(s):  
Heather Hampel
Keyword(s):  
Colorectal Cancer ◽  
Risk Assessment ◽  
High Risk ◽  
Lynch Syndrome ◽  
Risk Reduction ◽  
Hereditary Colorectal Cancer ◽  
Clinical Criteria ◽  
New Guidelines ◽  
Familial High Risk

NCCN has developed new guidelines for the assessment of high-risk familial/genetic colorectal cancer, and has positioned these recommendations within the guidelines for detection, prevention, and risk reduction. The Panel recommends that all patients with colorectal cancer be screened for Lynch syndrome, which occurs in 1 of every 35 patients and is the most common form of hereditary colorectal cancer. Such screening could be universal so that all tumors are genetically tested, or screening could be restricted to patients under the age of 70 and those aged 70 and older who meet clinical criteria.

Frequency of extracolonic tumors in Brazilian families with Lynch syndrome: analysis of a hereditary colorectal cancer institutional registry

2010 ◽  
Vol 9 (4) ◽  
pp. 563-570 ◽  
Author(s):  
Felipe Carneiro da Silva ◽  
Ligia Petrolini de Oliveira ◽  
Érika Monteiro Santos ◽  
Wilson Toshihiko Nakagawa ◽  
Samuel Aguiar Junior ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Hereditary Colorectal Cancer ◽  
Syndrome Analysis

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.

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