Table 2.
Molecular and IHC characteristics of the 51 CRCs from the Australian Colorectal Cancer Familial Registry (ACCFR).
| Case | Individual | Category | BRAF IHC | BRAF AS-PCR | Region tested | Sequencing | MLPA | MMR IHC | MSI Class | MLH1 methylation | CIMP Overall | Primary_Site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 1 | Lynch Syndrome | negative | wildtype | MLH1 c.350C>T p.Thr117Met | MLH1 | no | MLH1/PMS2 loss | MSI-H | descending colon | ||
| 2 | 2 | Lynch Syndrome | negative | wildtype | MLH1 c.350C>T p.Thr117Met | MLH1 | no | MLH1/PMS2 loss | MSI-H | |||
| 3 | 3 | Lynch Syndrome | positive | wildtype | MLH1 c.678-1G>C r.spl? p.? | MLH1 | MLH1 | MLH1/PMS2 loss | MSI-H | no methylation | negative | caecum |
| 4 | 4 | Lynch Syndrome | negative | wildtype | MLH1c.1852_1854delAAG p.Lys618del | MLH1 | no | MLH1/PMS2 loss | MSI-H | |||
| 5 | 5 | Lynch Syndrome | negative | wildtype | MLH1 c.790+2dupT r.[678_790del, 678_884del] p.? | MLH1 | MLH1 | MLH1/PMS2 loss | MSI-H | caecum | ||
| 6 | 5 | Lynch Syndrome | negative | wildtype | MLH1 c.790+2dupT r.[678_790del, 678_884del] p.? | MLH1 | MLH1 | MLH1/PMS2 loss | MSI-H | |||
| 7 | 6 | Lynch Syndrome | negative | wildtype | MLH1 del x3 | MLH1 | MLH1 | MLH1/PMS2 loss | MSI-H | transverse colon | ||
| 8 | 7 | Lynch Syndrome | negative | wildtype | MLH1 c.380+1G>A r.spl? p.? | MLH1 | no | MLH1/PMS2 loss | MSI-H | ascending colon | ||
| 9 | 8 | Lynch Syndrome | negative | wildtype | MLH1 c.1758delC p.Ala586fs | MLH1 | no | MLH1/PMS2 loss | MSI-H | transverse colon | ||
| 10 | 9 | Lynch Syndrome | positive | V600E positive | MLH1 c.790+2dupT r.[678_790del, 678_884del] p.? | MLH1 | no | MLH1/PMS2 loss | MSI-H | no methylation | positive | transverse colon |
| 11 | 10 | Lynch Syndrome | negative | wildtype | MLH1 c.116+5G>C r.[116_117ins227, spl?] p.? | MLH1 | no | MLH1/PMS2 loss | MSI-H | ascending colon | ||
| 12 | 11 | Lynch Syndrome | negative | wildtype | MLH1 c.350C>T p.Thr117Met | MLH1 | no | MLH1/PMS2 loss | MSI-H | transverse colon | ||
| 13 | 12 | Lynch Syndrome | negative | wildtype | MLH1 c.1559-2A>T r.spl? p.? | MLH1 | no | MLH1/PMS2 loss | MSI-H | sigmoid colon | ||
| 14 | 13 | Lynch Syndrome | negative | wildtype | MLH1 c.2224delC p.Gln742SerfsextX*25 | MLH1 | no | MLH1/PMS2 loss | caecum | |||
| 15 | 14 | Lynch Syndrome | negative | wildtype | MLH1 c.1464_1468delGGAAA p.Lys488AspfsX13 | MLH1 | MLH1 | MLH1/PMS2 loss | no methylation | negative | transverse colon | |
| 16 | 15 | Lynch Syndrome | negative | wildtype | MLH1 c.672delT p.Ser225ValfsX4 | MLH1 | MLH1 | MLH1/PMS2 loss | no methylation | negative | caecum | |
| 17 | 16 | Lynch Syndrome | negative | wildtype | MLH1 c.554T>G p.Val185Gly | MLH1 | MLH1 | MLH1/PMS2 loss | no methylation | negative | descending colon | |
| 18 | 17 | Lynch Syndrome | negative | wildtype | MLH1 c.76C>T p.Gln26X | MLH1 | no | MLH1/PMS2 loss | no methylation | negative | transverse colon | |
| 19 | 18 | Lynch Syndrome | negative | wildtype | MLH1 c.116+5G>C r.[116_117ins227, spl?] p.? | MLH1 | no | MLH1/PMS2 loss | MSI-L | caecum | ||
| 20 | 19 | Lynch Syndrome | negative | wildtype | MLH1 c.790+10A>G | MLH1 | MLH1/PMS2 loss | descending colon | ||||
| 21 | 20 | BRAF MSI-H | positive | V600E positive | No mutation found | MLH1 | MLH1 | MLH1/PMS2 loss | MSI-H | MLH1 methylation positive | positive | caecum |
| 22 | 21 | BRAF MSI-H | positive | V600E positive | No mutation found | MLH1 | MLH1 | MLH1/PMS2 loss | MSI-H | MLH1 methylation positive | positive | caecum |
| 23 | 22 | BRAF MSI-H | positive | V600E positive | no blood DNA for testing | no | no | MLH1/PMS2 loss | MSI-H | MLH1 methylation positive | positive | caecum |
| 24 | 23 | BRAF MSI-H | positive | V600E positive | No mutation found | MLH1 | no | MLH1/PMS2 loss | MSI-H | MLH1 methylation positive | positive | ascending colon |
| 25 | 24 | BRAF MSI-H | positive | V600E positive | no blood DNA for testing | no | no | MLH1/PMS2 loss | MSI-H | MLH1 methylation positive | positive | ascending colon |
| 26 | 25 | BRAF MSI-H | positive | V600E positive | no blood DNA for testing | no | no | MLH1/PMS2 loss | MLH1 methylation positive | positive | ascending colon | |
| 27 | 26 | BRAF MSI-H | positive | V600E positive | No mutation found | MLH1 | MLH1 | MLH1/PMS2 loss | MLH1 methylation positive | positive | caecum | |
| 28 | 27 | BRAF MSI-H | positive | V600E positive | No mutation found | no | no | MLH1/PMS2 loss | MSI-H | MLH1 methylation positive | positive | |
| 29 | 28 | BRAF MSI-H | positive | V600E positive | no blood DNA for testing | no | no | MLH1/PMS2 loss | MLH1 methylation positive | positive | caecum | |
| 30 | 28 | BRAF MSI-H | positive | V600E positive | no blood DNA for testing | no | no | MLH1/PMS2 loss | MLH1 methylation positive | positive | transverse colon | |
| 31 | 29 | BRAF MSI-H | positive | V600E positive | no blood DNA for testing | no | no | MLH1/PMS2 loss | MSI-H | MLH1 methylation positive | positive | sigmoid colon |
| 32 | 30 | BRAF MSS | positive | V600E positive | not tested yet | no | no | normal expression | MSI-L | no methylation | sigmoid colon | |
| 33 | 31 | BRAF MSS | positive | V600E positive | not tested yet | no | no | normal expression | MSS | rectum | ||
| 34 | 32 | BRAF MSS | positive | V600E positive | no blood DNA for testing | no | no | normal expression | MSS | sigmoid colon | ||
| 35 | 33 | BRAF MSS | positive | V600E positive | not tested yet | no | no | normal expression | MSS | caecum | ||
| 36 | 34 | BRAF MSS | positive | V600E positive | not tested yet | no | no | normal expression | MSS | caecum | ||
| 37 | 35 | BRAF MSS | positive | V600E positive | No mutation found | MLH1 | no | normal expression | MSI-L | descending colon | ||
| 38 | 36 | BRAF MSS | positive | V600E positive | No mutation found | MLH1 | no | normal expression | MSI-L | descending colon | ||
| 39 | 37 | BRAF MSS | positive | V600E positive | No mutation found | MLH1 | no | normal expression | MSS | no methylation | positive | sigmoid colon |
| 40 | 38 | BRAF MSS | positive | V600E positive | not tested yet | no | no | normal expression | MSS | transverse colon | ||
| 41 | 39 | BRAF MSS | positive | V600E positive | not tested yet | no | no | normal expression | MSS | rectum | ||
| 42 | 40 | BRAF MSS | positive | V600E positive | not tested yet | no | no | normal expression | MSS | no methylation | negative | rectum |
| 43 | 41 | MSI-H BRAFwt | negative | wildtype | No mutation found | MLH1 | MLH1 | MLH1/PMS2 loss | MSI-H | no methylation | negative | ascending colon |
| 44 | 42 | MSI-H BRAFwt | negative | wildtype | No mutation found | MLH1 | MLH1 | MLH1/PMS2 loss | MSI-H | MLH1 methylation positive | positive | transverse colon |
| 45 | 43 | MSI-H BRAFwt | negative | wildtype | No mutation found | MLH1 | MLH1 | MLH1/PMS2 loss | MSI-H | MLH1 methylation positive | negative | caecum |
| 46 | 44 | MSI-H BRAFwt | negative | wildtype | no blood DNA for testing | no | no | MLH1/PMS2 loss | MSI-H | MLH1 methylation positive | positive | caecum |
| 47 | 45 | MSI-H BRAFwt | negative | wildtype | No mutation found | MLH1 | MLH1 | MLH1/PMS2 loss | MSI-H | MLH1 methylation positive | negative | transverse colon |
| 48 | 46 | MSI-H BRAFwt | negative | wildtype | No mutation found | MLH1 | MLH1 | MLH1/PMS2 loss | MSI-H | MLH1 methylation positive | negative | ascending colon |
| 49 | 47 | MSI-H BRAFwt | negative | wildtype | No mutation found | MLH1 | MLH1 | MLH1/PMS2 loss | MLH1 methylation positive | negative | caecum | |
| 50 | 48 | MSI-H BRAFwt | negative | wildtype | No mutation found | MLH1 | MLH1 | MLH1/PMS2 loss | MLH1 methylation positive | negative | rectum | |
| 51 | 49 | MSS BRAF wt | negative | wildtype | No mutation found | MLH1 | MLH1 | normal expression | MSS | rectum |