Hereditary Colon Cancer: Lynch Syndrome

2010 ◽  
pp. 77-88 ◽  
Author(s):  
Eunice L. Kwak ◽  
Daniel C. Chung
Keyword(s):  
Colon Cancer ◽  
Lynch Syndrome ◽  
Hereditary Colon Cancer

scholarly journals Hereditary Colon Cancer: Lynch Syndrome

Gut and Liver ◽  
2010 ◽  
Vol 4 (2) ◽  
pp. 151-160 ◽  
Author(s):  
Eunjeong Jang ◽  
Daniel C. Chung
Keyword(s):  
Colon Cancer ◽  
Lynch Syndrome ◽  
Hereditary Colon Cancer

scholarly journals Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations

2016 ◽  
Vol 98 ◽  
Author(s):  
JAMES ZIAI ◽  
ELLEN MATLOFF ◽  
JAEHYUK CHOI ◽  
NINANI KOMBO ◽  
MIGUEL MATERIN ◽  
...  
Keyword(s):  
Colon Cancer ◽  
Autosomal Dominant ◽  
Ashkenazi Jewish ◽  
Cancer Genes ◽  
Jewish Family ◽  
Hereditary Colon Cancer ◽  
Juvenile Polyps ◽  
Cancer Phenotype ◽  
Management Recommendations ◽  
Dominant Condition

SummaryHereditary mixed polyposis is a genetically heterogeneous, autosomal dominant condition with adenomatous, hyperplastic and juvenile polyps. We conducted a comprehensive clinical evaluation of a large Ashkenazi Jewish family with this phenotype and performed extensive genetic testing. As seen in one previous report, a 40 kb duplication upstream of GREM1 segregated with the polyposis/colon cancer phenotype in this kindred. Our study confirms the association of GREM1 with mixed polyposis and further defines the phenotype seen with this mutation. This gene should be included in the test panel for all Jewish patients with mixed polyposis and may be considered in any Ashkenazi patient with unexplained hereditary colon cancer when mutations in other hereditary colon cancer genes have been ruled out.

“Null Pattern” of Immunoreactivity in a Lynch Syndrome-Associated Colon Cancer Due to Germline MSH2 Mutation and Somatic MLH1 Hypermethylation

2011 ◽  
Vol 35 (12) ◽  
pp. 1902-1905 ◽  
Author(s):  
Catherine E. Hagen ◽  
Joel Lefferts ◽  
Jason L. Hornick ◽  
Amitabh Srivastava
Keyword(s):  
Colon Cancer ◽  
Lynch Syndrome ◽  
Msh2 Mutation
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