Universal screening for microsatellite instability in colorectal cancer in the clinical genomics era: new recommendations, methods, and considerations

Familial Cancer

Volumn 16, Issue 4, 2017, Pages 525-529

  Hechtman, Jaclyn F ^a   Middha, Sumit ^a   Stadler, Zsofia K ^a   Zehir, Ahmet ^a   Berger, Michael F ^a   Vakiani, Efsevia ^a   Weiser, Martin R ^a   Ladanyi, Marc ^a   Saltz, Leonard B ^a   Klimstra, David S ^a   Shia, Jinru ^a  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CANCER PATIENT; COLON TISSUE; COLORECTAL CANCER; GENETIC SCREENING; HUMAN; HUMAN GENOME; INFORMED CONSENT; LETTER; MICROSATELLITE INSTABILITY; MOLECULAR DIAGNOSIS; MOLECULAR SENSOR; MSINGS METHOD; MSISENSOR; MSISEQ METHOD; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; COLORECTAL TUMOR; GENETICS; GENOMICS; HIGH THROUGHPUT SEQUENCING; MISMATCH REPAIR;

COLORECTAL NEOPLASMS; DNA MISMATCH REPAIR; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MICROSATELLITE INSTABILITY;

EID: 85017415821     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-017-9993-x     Document Type: Letter

References (11)

1. National cancer institute: SEER cancer Stat Facts: Colon and Rectum Cancer. https://seer.cancer.gov/statfacts/html/colorect.html
2. Shia J (2015) Evolving approach and clinical significance of detecting DNA mismatch repair deficiency in colorectal carcinoma. Semin Diagn Pathol 32:352–361
3. Salipante SJ, Scroggins SM, Hampel HL, Turner EH, Pritchard CC (2014) Microsatellite instability detection by next generation sequencing. Clin Chem 60:1192–1199
4. Huang MN, McPherson JR, Cutcutache I, Teh BT, Tan P, Rozen SG (2015) MSIseq: software for assessing microsatellite instability from catalogs of somatic mutations. Sci Rep 5:13321
5. Niu B, Ye K, Zhang Q et al (2014) MSIsensor: microsatellite instability detection using paired tumor-normal sequence data. Bioinformatics 30:1015–1016
6. Cheng DT, Mitchell TN, Zehir A et al (2015) Memorial Sloan Kettering-integrated mutation profiling of actionable cancer targets (MSK-IMPACT): a hybridization capture-based next-generation sequencing clinical assay for solid tumor molecular oncology. J Mol Diagn 17:251–264
7. Stadler ZK, Battaglin F, Middha S et al (2016) Reliable detection of mismatch repair deficiency in colorectal cancers using mutational load in next-generation sequencing panels. J Clin Oncol 34:2141–2147
8. Furlow B (2016) Clinton and Trump: competing visions for the Affordable Care Act and US health care. Lancet Oncol 17:1197–1198
9. Berends MJ, Wu Y, Sijmons RH et al (2002) Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. Am J Hum Genet 70:26–37
10. Goel A, Nagasaka T, Hamelin R, Boland CR (2010) An optimized pentaplex PCR for detecting DNA mismatch repair-deficient colorectal cancers. PLoS ONE 5:e9393
11. Shia J (2008) Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry. J Mol Diagn 10:293–300