Table 3

Clinicopathologic findings, hMSH6 immunohistochemistry, and hMSH6 alterations in the 41 patients with MSI-L CRCa

Pt. no.MSIbhMSH6 alterationchMSH6 IHCdGender (agee)Tumor sitefStagePersonal history of cancer (other than CRC)Family history of cancerg
392 /184, 13+M (74)RecC2Mother, colon (43)
Unclem, colon
121 /7+M (68)CecB2Father, colon (64)
Brother, gastric (45)
Brother, prostate (75)
Sister, unknown cancer
32 /7+M (39)SigC2Grandfatherm, colon (65)
Grandfatherp, colon (68)
Father, prostate
Sister, skin (19)
91 /6+F (56)DescC2Father, colon (65)
Unclep, colon (68)
112 /710, 13, 14+M (50)AscC2Brother, colon (52)
Grandfather, colon (78)
331 /282+F (64)CecC2Father, colon (78)
Sibling, colon
81 /7+M (47)CecB2Unclem, gastric
Unclem, gastric (90)
Grandmotherm, gastric
Aunt, bladder (47)
Aunt, breast (78)
Aunt, breast (72)
Uncle, prostate (91)
102 /74, 12+M (53)RecDFather, gastric (82)
Unclep, gastric (95)
Unclep, gastric (86)
Mother, ovarian (78)
Uncle, lung (59)
Uncle, prostate (82)
Uncle, kidney (45)
Uncle, brain
181 /338, 10+F (77)CecB2Breast cancer and benign uterine tumorBrother, colon Father, gastric
51 /78, 10NDM (76)RecB2Father, colon (70)
255 /331, 2, 4, 5, 9, 13NDM (80)AscB2Sister, colon
322 /29+F (70)CecDBrother, colon
Mother, esophagus
441 /162+M (52)RecC1Father, rectal (40)
401 /182, 10+F (77)RecB2Father, gastric (75)
Mother, unknown type cancer (67)
Sibling, Hodgkin’s lymphoma
72 /77, 10NDM (63)SigB1BladderMother, pancreas (42)
Auntm, pancreas (72)
Auntm, pancreas (58)
Cousin, prostate
141 /62+M (70)CecB2Father, skin
Uncle, leukemia (82)
162 /339, 10+F (68)RecC2Mother, unknown type of cancer
214 /334, 5, 9+M (81)SigB1Prostate cancerMother, unknown type of cancer
Father, unknown type of cancer
Sister, unknown type of cancer
Sister, unknown type of cancer
263 /3310, 11+M (76)CecB1Father, lung cancer
271 /29+M (75)RecB1Brother, lung
Sister, liver
282 /294, 10+M (71)Rec and SigC2Synchronous colon cancersFather, bladder
291 /294, 6, 10+M (76)SigDSquamous cell carcinomaFather, squamous cell carcinoma
312 /293, 4, 6, 7, 9, 10, 13+F (81)AscC2BreastBrother, brain
341 /282, 8+F (79)AscDBreastMother, breast
Brother, bone
421 /177, 10, 15+M (73)RecB2One relative, leukemia
153 /339NDM (44)RecC2No family history of cancer
21 /72NDM (83)CecC2No family history of cancer
451 /167, 10+M (41)CecB2Myeloproliferative diseaseNo family history of cancer
171 /337, 10+F (57)SigC2No family history of cancer
223/334, 13+M (75)SigB1No family history of cancer
233 /334, 7+M (80)RecDNo family history of cancer
241 /334, 5, 9, 13+F (60)TransB2No family history of cancer
361 /192, 10+M (78)AscC1No family history of cancer
381 /18+F (69)CecDNo family history of cancer
431 /172, 10NDF (69)SigB1MelanomaNo family history of cancer
461 /112, 7, 10+F (80)UnkDNo family history of cancer
191 /332+F (54)SigB1Adopted
201 /3310+F (36)RecB1No information
301 /294, 5, 9, 13NDM (65)RecDNo information
351 /192, 4, 10+M (81)SigDNo information
411 /18+F (70)RecDNo information
  • a Patients with strongest family history of cancer are shown at the top of the table.

  • b MSI (number of markers exhibiting MSI/number of markers providing successful PCR results).

  • c See Table 2 <$REFLINK> for designations. Missense mutations indicated in bold.

  • d IHC, immunohistochemistry; ND, not done (no slides available for immunostaining).

  • e Age at colorectal cancer diagnosis.

  • f Cec, cecum; Asc, ascending colon; Trans, transverse colon; Desc, descending colon; Sig, sigmoid colon; Rec, rectum; Unk, unknown.

  • g Age at diagnosis shown in parentheses if known. For individuals with colorectal or gastric cancer, the side of the family is indicated as maternal (superscript “m”) or paternal (superscript“ p”) if known.