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Michael J. Hall

R oughly 3% of newly diagnosed colorectal cancer (CRC) occurs as the result of an inherited mutation in a mismatch repair (MMR) gene as part of hereditary non-polyposis colorectal cancer or Lynch syndrome. Individuals with a mutation in an MMR

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Wen-Zhuo He, Wan-Ming Hu, Fang Wang, Yu-Ming Rong, Lin Yang, Qian-Kun Xie, Yuan-Zhong Yang, Chang Jiang, Hui-Juan Qiu, Jia-Bin Lu, Bei Zhang, Pei-Rong Ding, Xiao-Jun Xia, Jian-Yong Shao and Liang-Ping Xia

cancer alone. 3 The mismatch repair (MMR)/microsatellite instability (MSI) pathway significantly contributes to CRC development 12 , 13 and is associated with the immune microenvironment. 14 , 15 However, although the distinct features of MSI-high (MSI

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Robin K. Kelley, Stephanie L. Van Bebber, Kathryn A. Phillips and Alan P. Venook

protein (MMR) testing, and the Onco type DX Colon Cancer Assay (Genomic Health, Inc., Redwood City, California). 24 Each of these biomarker tests have been considered for guideline inclusion by the NCCN Guidelines Panel for Colon Cancer. The authors

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Ellin Berman

hypoplasia, premature closing of the skull, scoliosis, and cleft palate with polydactyly. Figure 1. Incidence of major molecular response (MMR) and molecular response of a 4.5-log reduction (MR4.5). In the second study, 78 pregnant women with

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David D. Stenehjem, Frederick Albright, Kuan-Ling Kuo, Karina Raimundo, Hillevi Bauer, Paul J. Shami, Michael W. Deininger, Lei Chen and Diana I. Brixner

patient is not experiencing CCyR or major molecular response (MMR) (to view the most recent version of these guidelines, visit NCCN.org ). 2 , 14 Quantification of BCR-ABL1 transcripts using quantitative PCR standardized to the IS is recommended before

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Talia Golan and Milind Javle

mutations in the nucleotide excision repair system. The second observation in the 1990s was Lynch syndrome, a hereditary nonpolyposis colorectal cancer resulting from microsatellite instability (MSI), resulting from DNA mismatch repair impairment (MMR). 9

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Shilpa Grover and Sapna Syngal

pattern. Germline mutations in mismatch repair (MMR) genes MLH1 and MSH2 account for 90% of cases. 16 Mutations in MSH6 have been found in 6% to 10% of families with a history of Lynch syndrome, and mutations in PMS2 have been identified in 1

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Rajmohan Murali, Deborah F. Delair, Sarah M. Bean, Nadeem R. Abu-Rustum and Robert A. Soslow

53-aberrant group. Abnormal DNA ploidy was associated with higher grade, nonendometrioid histotype, and poorer survival (particularly in mismatch repair [MMR]–deficient tumors). 39 A recent study of endometrial clear cell carcinomas identified

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Jerald P. Radich

months. A patient is considered to be a “nonresponder” if he or she has less than a partial cytogenetic response at 12 months. For example, “If there is a lousy response, your chance of ever getting a major molecular response [MMR] is low,” explained Dr

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Hema Sundar and Jerald Radich

NCCN.org .) Abbreviations: BM, bone marrow; CCyR, complete cytogenic response; IS, international scale; MMR, major molecular respons; QPCR, quantitative polymerase chain reaction. with nilotinib and should be monitored periodically. ECG should be