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Table 4 Characteristics of the families with pathogenic/likely pathogenic MLH1/MSH2 variants

From: Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients

Study Id Nucleotide change Gender Age at onset Tumor location Family history (age at onset in years) Criteria LOVDa Ethnicity
Families with MLH1 variants
 C162 c.1672G > T F 32 Transverse colon CRC (32, 45, 45,?,?), BC (42, > 45), unknown (?) HNPCC P Kashmiri
 C92 c.2041G > A M 41 Transverse colon CRC (42) suspected-HNPCC P Punjabi
 C122 c.2041G > A M 41 Rectum Brain tumor (16) non-HNPCC   Urdu speaking
 C203 c.1358dup F 44 Sigmoid colon CRC (< 30, 35, 54, 62), abdomen (?), stomach (36) HNPCC P Punjabi
 C202 c.67delG F 48 Cecum CRC (38, 42, 45) HNPCC P Pathan
 H707 c.1358dup M 61 Transverse colon CRC (31, 35, 45, 45, < 50, 50, 61,?) HNPCC P Punjabi
Families with MSH2 variants
 C143 c.943-1G > C M 32 Rectosigmoid CRC (40, 59, 60) HNPCC LP Pathan
 C164 c.1786_1788delAAT M 39 Ascending colon BC (50) non-HNPCC P Punjabi
 H1075 c.943-1G > C M 43 Ascending colon CRC (55), unknown (< 21,?) suspected-HNPCC   Pathan
 C85 c.1861C > T M 45 Rectum CRC (65) suspected-HNPCC P Punjabi
 H421 c.2656G > T F 48, 67 Endometrium, breast CRC (43, 55, 59), BC (58, 60, 66/76, 67), OC (43, 51, 57), ALL (5), endometrium (46, 52, 53), intestine (42, 45), stomach (59), liver (60), prostate (58), renal (58), brain (13), osteosarcoma (13) suspected-HNPCC P Pathan
 C49 c.943-1G > C M 60 Sigmoid colon CRC (50) suspected-HNPCC   Pathan
Families with novel MLH1/MSH2 variants
 C141 c.116 + 3A > Tb M 30 Sigmoid colon – non-HNPCC NR/LPb Punjabi
 C199 c.2120G > Ac M 38 Rectum CRC (40, 45, 50, 52, 65,?,?) HNPCC NR/LPc Pathan
 C75 c.2120G > Ac F 38 Recto sigmoid Brain tumor (?) non-HNPCC   Punjabi
 P53 c.2120G > Ac F 54 Rectum – non-HNPCC   Punjabi
Families with a previously reported MLH1 variant  
 C198 c.1919C > T M 35 Transverse colon CRC (25, 30, 43, 66,?) HNPCC VUS/LPd Pathan
 C199 c.1919C > T M 38 Rectum CRC (40, 45, 50, 52, 65,?,?) HNPCC   Pathan
 C72 c.1919C > T F 38 Transverse colon Bladder (50), Bone (50) suspected-HNPCC   Pathan
 C55 c.1919C > T M 38 Cecum CRC (60) suspected-HNPCC   Pathan
 P02 c.1919C > T M 45 Transverse colon CRC (?,?,?) HNPCC   Pathan
 H708 c.1919C > T M 51 Ascending colon CRC (50, 65) suspected-HNPCC   Pathan
 P01 c.1919C > T M 52 Transverse colon CRC (?,?), Endometrium (?), Spleen (?) non-HNPCC   Pathan
 C185 c.1919C > T F 60 Colon Stomach (15), Epithilial (18) non-HNPCC   Pathan
  1. ?, age at diagnosis is not known
  2. ALL Acute lymphoid leukemia, BC Breast cancer, CRC Colorectal cancer, LP Likely pathogenic, NR No record in LOVD database, OC ovarian cancer, P pathogenic, VUS variant of uncertain significance
  3. aClassification is based on Leiden Open Variation Database (LOVD) maintained by International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
  4. bThis variant is considered as likely pathogenic by four of the five splice-site prediction algorithms
  5. cThis variant is considered as likely pathogenic by five of the seven protein function prediction algorithms
  6. dThis variant is reported as VUS in LOVD database and considered in the current study as likely pathogenic by seven of the seven protein function prediction algorithms combined with functional assay [29]
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Hereditary Cancer in Clinical Practice

ISSN: 1897-4287