Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC)

1995 ◽  
Vol 4 (2) ◽  
pp. 237-242 ◽  
Author(s):  
Hye-Jung Han ◽  
Masakazu Maruyama ◽  
Shozo Baba ◽  
Jae-Gahb Park ◽  
Yusuke Nakamura
Keyword(s):  
Colorectal Cancer ◽  
Mismatch Repair ◽  
Mutation Analysis ◽  
Genomic Structure ◽  
Mismatch Repair Gene ◽  
Repair Gene

scholarly journals Chromosomal instability and p53 inactivation are required for genesis of glioblastoma but not for colorectal cancer in patients with germline mismatch repair gene mutation

Oncogene ◽  
2000 ◽  
Vol 19 (35) ◽  
pp. 4079-4083 ◽  
Author(s):  
Suet Yi Leung ◽  
Siu Tsan Yuen ◽  
Tsun Leung Chan ◽  
Annie SY Chan ◽  
Judy WC Ho ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Mismatch Repair ◽  
Gene Mutation ◽  
Chromosomal Instability ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
P53 Inactivation

T2042 Mismatch Repair Gene Product Expression and Colorectal Cancer in Hispanics

2008 ◽  
Vol 134 (4) ◽  
pp. A-606-A-607 ◽  
Author(s):  
Wilfredo E. De Jesus-Monge ◽  
Ronghua Zhao ◽  
Carmen Gonzalez-Keelan ◽  
Stanley R. Hamilton ◽  
Miguel Rodriguez-Bigas ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Mismatch Repair ◽  
Gene Product ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Product Expression

Missense Mismatch Repair Gene Alterations, Microsatellite Instability, and Hereditary Nonpolyposis Colorectal Cancer

2002 ◽  
Vol 20 (14) ◽  
pp. 3178-3179 ◽  
Author(s):  
Wade S. Samowitz ◽  
Martha L. Slattery ◽  
Emilio Porfiri ◽  
Mario Scartozzi ◽  
Andrea Piga ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Microsatellite Instability ◽  
Mismatch Repair ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Hereditary Nonpolyposis ◽  
Gene Alterations

Immunohistochemistry Identifies Carriers of Mismatch Repair Gene Defects Causing Hereditary Nonpolyposis Colorectal Cancer

2005 ◽  
Vol 23 (21) ◽  
pp. 4705-4712 ◽  
Author(s):  
Astrid T. Stormorken ◽  
Inger Marie Bowitz-Lothe ◽  
Tove Norèn ◽  
Elin Kure ◽  
Steinar Aase ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Mismatch Repair ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Predictive Values ◽  
Blood Samples ◽  
Bethesda Criteria ◽  
Amsterdam Criteria ◽  
Hereditary Nonpolyposis

Purpose Hereditary nonpolyposis colorectal cancer (HNPCC) may be caused by mutations in mismatch repair (MMR) genes. The aim of this study was to validate immunohistochemistry and family history as prescreening tools to predict germline mutations in MLH1, MSH2, and MSH6. Patients and Methods Pedigrees from 250 families were extended, cancer diagnoses were verified, and families were classified according to the Amsterdam and the Bethesda criteria. Tumor specimens were examined with immunohistochemistry for the presence of MLH1, MSH2, and MSH6 proteins. Mutation analyses were performed in blood samples from the same patients. Results Blood samples from affected index persons in 181 families and tumor specimens from 127 of the affected index persons were obtained. Thirty tumors lacked one or more gene products. Sensitivity of immunohistochemistry to detect mutation carriers was 100%, specificity was 82%, and positive predictive value was 85%. Sensitivities, specificities, and positive predictive values for the Amsterdam criteria were 82%, 8%, and 45%, respectively, and for the Bethesda criteria were 100%, 0%, and 48%, respectively. Distribution of mutations was MLH1 = 4, MSH2 = 11, and MSH6 = 4. Conclusion Wide clinical criteria to select HNPCC kindreds, followed by immunohistochemistry of tumor material from one affected person in each family, had high sensitivity and specificity to predict MMR mutations.

scholarly journals Comprehensive Molecular Analysis of Mismatch Repair Gene Defects in Suspected Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Cases

2009 ◽  
Vol 69 (17) ◽  
pp. 7053-7061 ◽  
Author(s):  
James Mueller ◽  
Isabella Gazzoli ◽  
Prathap Bandipalliam ◽  
Judy E. Garber ◽  
Sapna Syngal ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Molecular Analysis ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Hereditary Nonpolyposis ◽  
Gene Defects

First Case Report of a Dramatic Radiographic Response to a Checkpoint Inhibitor in a Patient With Proficient Mismatch Repair Gene Expressing Metastatic Colorectal Cancer

2017 ◽  
pp. 1-4 ◽  
Author(s):  
Steven Sorscher ◽  
Jamie Resnick ◽  
Michael Goodman
Keyword(s):  
Colorectal Cancer ◽  
Metastatic Colorectal Cancer ◽  
Mismatch Repair ◽  
Response Rate ◽  
Checkpoint Inhibitor ◽  
Checkpoint Inhibitors ◽  
The United States ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
First Case

Metastatic colorectal cancer (mCRC) remains the second most common cause of cancer death in the United States, and therapeutic options are limited. Recently, the checkpoint inhibitor pembrolizumab was given the Food and Drug Administration breakthrough therapy designation for the treatment of patients with mCRC whose tumors demonstrate deficient mismatch repair gene (dMMR) expression (as evidenced by microsatellite instability–high [MSI-H]). The designation was based on a phase II study showing that in patients with dMMR, an objective response rate of 40% was seen, whereas in patients with proficient mismatch repair gene mCRCs, the response rate was 0%. To our knowledge, this is the first case of a patient with a proficient mismatch repair gene mCRC whose tumor demonstrated a dramatic response to a checkpoint inhibitor. Because this patient’s tumor harbored amplification of both the PD-L1 and PD-L2 genes, the observed response was consistent with the presumed mechanism of action of checkpoint inhibitors. Checkpoint inhibitors are thought to activate a cytotoxic immune response that has been inhibited through tumor expression of PD-L1 and PD-L2. Given this result, dMMR in mCRC may not be the only predictor of responsiveness to checkpoint inhibition. As in non–small-cell lung cancer, PD-L1 or PD-L2 expression (or perhaps gene amplification) may also be predictors of checkpoint inhibitor efficacy.

822a Metachronous Colorectal Cancer Risk Following Surgery for First Rectal Cancer in Mismatch Repair Gene Mutation Carriers

2012 ◽  
Vol 142 (5) ◽  
pp. S-1045
Author(s):  
Aung Ko Win ◽  
Susan Parry ◽  
Bryan Parry ◽  
Matthew F. Kalady ◽  
Finlay A. Macrae ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Rectal Cancer ◽  
Cancer Risk ◽  
Mismatch Repair ◽  
Gene Mutation ◽  
Colorectal Cancer Risk ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Mutation Carriers ◽  
Metachronous Colorectal Cancer

Metachronous colorectal cancer in mismatch repair gene mutation carriers: The advantage of more extensive surgery.

2010 ◽  
Vol 28 (15_suppl) ◽  
pp. 3515-3515
Author(s):  
S. Parry ◽  
A. Win ◽  
F. Macrae ◽  
B. Parry ◽  
N. M. Lindor ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Mismatch Repair ◽  
Gene Mutation ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Mutation Carriers ◽  
Metachronous Colorectal Cancer ◽  
Extensive Surgery
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