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. 2020 Sep 17;17(9):e1003263. doi: 10.1371/journal.pmed.1003263

Table 2. Clinicopathological characteristics, tumour-based triage, and germline sequencing results of women with LS-associated EC.

Patient Demographics Family history Pathology Tumour-based triage Germline sequencing
ID Age range (y) BMI (kg/m2) Ethnicity Meets Amsterdam II Criteria Meets Revised Bethesda Criteria PREMM5 score FIGO (2009) stage, grade and histological subtype MMR-IHC results MSI results Germline pathological variant InSiGHT class ACMG class
16a 30–34 23 White Yes Yes 17.80% Stage 1a grade 3 mixed endometrioid and clear cell EC MLH1/PMS2 loss
(normal MLH1-methylation)		 MSI-H MLH1 c.473delA p.(Asn158ThrfsTer2) 5* P
25 50–54 30 White Yes Yes 7.60% Stage 3b grade 2 endometrioid EC MSH2/MSH6 loss MSI-H MSH2 c.2563C>T p.(Gln855Ter) 5 P
31a 40–44 25 White No No 9.10% Stage 1a grade 1 endometrioid EC Isolated MSH6 loss MSS MSH6 c.2731C>T p.(Arg911Ter) 5 P
61 45–49 42 Asian Yes Yes 24.20% Stage 3a grade 3 de-differentiated EC MSH2/MSH6 loss MSI-H  MSH2 Ex n7 deletion 5 P
96 80–84 29 White No No 2.00% Stage 3b grade 2 endometrioid EC Isolated MSH6 loss MSS MSH6 c.1084C>T p.(Pro362Ser) & MSH6 c.2018C>T p.(Pro673Leu) 4* VUS
122 45–49 20 White No No 11.30% Stage 1a grade 1 endometrioid EC MSH2/MSH6 loss MSI-H MSH2 c.366+1G>A 4 P
128 60–64 23 White No No 2.50% Stage 1b grade 1 endometrioid EC Isolated MSH6 loss MSI-L MSH6 c.3313G>T p.(Gly1105Ter) 5* LP
173 65–69 23 White No No 2.20% Stage 1a grade 2 endometrioid EC PMS2 loss MSI-H PMS2 Del Exon 9–10 5 P
213 44–49 27 White No No 4.80% Stage 2 grade 3 mixed endometrioid and clear cell EC Isolated MSH6 loss MSI-H MSH6 c.2731C>T p.(Arg911Ter) 5 P
215 60–64 33 White No No 2.50% Stage 3b grade 2 endometrioid EC Isolated MSH6 loss MSI-H MSH6 c.3004_3005delGG p.(Gly1002LeufsTer2) 5* P
241 60–64 36 White No No 3.10% Stage 1b grade 3 carcinosarcoma Isolated MSH6 loss MSI-H MSH6 c.2731C>T p.(Arg911Ter) 5 P
255 55–59 34 White No No 6.40% Stage 1a grade 3 endometrioid EC Isolated MSH6 loss MSS MSH6 c.2731C>T p.(Arg911Ter) 5 P
256a,b 45–49 32 White Yes Yes 8.60% Stage 1a grade 1 endometrioid EC MLH1/PMS2 loss
(normal MLH1-methylation)		 MSI-H MLH1 c.1409+1 G>C 5 P
BRC 882 25–29 21 Asian No Yes 27.20% Stage 1a grade 1 endometrioid EC Isolated PMS2 loss MSS Homozygous PMS2 c.1500delC 5* P
BRC 165 65–69 23 White No No 3.00% Stage 3a grade 3 carcinosarcoma MSH2/MSH6 loss MSS MSH2 Del Exon 1–8 5 P
PRE
011		 55–59 30 White No No 3% Stage 1a grade 1 endometrioid EC Isolated MSH6 loss MSS MSH6 c.3261delC p.(Phe1088SerfsTer2) 5 P

aAlready aware of LS diagnosis before enrolment in PETALS study.

bEnrolled in gynaecological cancer surveillance program, EC incidental finding at risk reducing prophylactic hysterectomy.

InSiGHT: class 5, pathogenic MMR variant; class 4, likely pathogenic MMR variant; class 3, MMR variant of uncertain pathogenicity.

ACMG classification of MMR variants: P, pathogenic; LP, likely pathogenic; VUS, variant of uncertain significance.

Abbreviations: ACMG, American College of Medical Genetics and Genomics; BMI, body mass index; EC, endometrial cancer; FIGO,; IHC, immunohistochemistry; InSiGHT,; LS, Lynch Syndrome; MMR, mismatch repair; MSI, microsatellite instability; MSI-H, microsatellite instability-high; MSI-L, microsatellite instability-low; MSS, microsatellite stable; PREMM5, Prediction of MMR Gene Mutations-v.5 scores