Characteristics of the 15 samples classified as MSI-High by the LMR panel from 9 patients

a Personal history of LS-associated cancer. CRC,colorectal cancer; number indicates age in years at diagnosis.
b 1st or 2nd degree relative with LS-associated cancer. CRC,colorectal cancer; OV,ovarian cancer; EC,endometrial cancer; number indicates age in years at diagnosis; question mark indicates unknown age.
c AC, adenocarcinoma; HP, hyperplastic polyp; SSP, sessile serrated polyp; TA, tubular adenoma; TVA, tubulovillous adenoma.
d ND, no data. MLH1, loss of MLH1 and PMS2 expression by IHC. MSH2, loss of MSH2 and MSH6 expression by IHC. Normal, intact IHC staining. Germline DNA sequencing information was available for patients 1–3.
e BRAF V600E mutation tested by DNA sequencing and/or by ARMS-PCR [25].
f Group: Patients were classified as LS if they had a pathogenic germline MMR mutation. Patients were classified as LS probable if tumor was MSI-High and no BRAF V600E mutation was found, plus one of more of the following: loss of expression for MSH2, MSH6 or PMS2 by IHC, colorectal cancer before age 50 or a 1st or 2nd degree relative with LS-associated cancer.
Characteristics of the 15 samples classified as MSI-High by the LMR panel from 9 patients