1. Screening for mismatch repair deficiency in colorectal cancer: data from three academic medical centers
- Author
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Niall Mulligan, Paul McCormick, Delia Flannery, Éanna J Ryan, Ben Creavin, Denise Keegan, Michael P. Farrell, Diarmuid O'Donoghue, Emily Donovan, Kieran Sheahan, Terri P. McVeigh, Conor Shields, M. J. Kennedy, Robert Geraghty, Andrew Green, Grainne M. O'Kane, Brian Mehigan, Padraic MacMathuna, John Hyland, Cian Muldoon, Carmel Nolan, David J. Gallagher, and Desmond C. Winter
- Subjects
Adult ,Proto-Oncogene Proteins B-raf ,Cancer Research ,medicine.medical_specialty ,Adolescent ,Colorectal cancer ,Population ,DNA Mismatch Repair ,Young Adult ,03 medical and health sciences ,reflex immunohistochemistry ,0302 clinical medicine ,Internal medicine ,Humans ,Medicine ,Radiology, Nuclear Medicine and imaging ,Young adult ,education ,Original Research ,Aged ,Aged, 80 and over ,Academic Medical Centers ,education.field_of_study ,mismatch repair deficiency ,business.industry ,screening ,Cancer ,Middle Aged ,medicine.disease ,Immunohistochemistry ,digestive system diseases ,Lynch syndrome ,Surgery ,BRAF V600E ,Phenotype ,Oncology ,030220 oncology & carcinogenesis ,Mutation ,MISMATCH REPAIR DEFICIENCY ,030211 gastroenterology & hepatology ,DNA mismatch repair ,Colorectal Neoplasms ,business ,Cancer Prevention - Abstract
Reflex immunohistochemistry (rIHC) for mismatch repair (MMR) protein expression can be used as a screening tool to detect Lynch Syndrome (LS). Increasingly the mismatch repair‐deficient (dMMR) phenotype has therapeutic implications. We investigated the pattern and consequence of testing for dMMR in three Irish Cancer Centres (CCs). CRC databases were analyzed from January 2005–December 2013. CC1 performs IHC upon physician request, CC2 implemented rIHC in November 2008, and CC3 has been performing rIHC since 2004. The number of eligible patients referred to clinical genetic services (CGS), and the number of LS patients per center was determined. 3906 patients were included over a 9‐year period. dMMR CRCs were found in 32/153 (21%) of patients at CC1 and 55/536 (10%) at CC2, accounting for 3% and 5% of the CRC population, respectively. At CC3, 182/1737 patients (10%) had dMMR CRCs (P
- Published
- 2017
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