TABLE 1.
Detected mutations in the 27 patients of the FCCTX group.
| Gender | Age | Location | Gene | Variant | Variants type | Variant impact |
| Female | 45 | Rectum | ATM | NC_000011.10:g.108257512_108257513CT(p. Leu762fs) | frameshift | Likely pathogenic |
| Male | 58 | Rectum | BRCA1 | NC_000017.11:g.43094020C>T(p. Arg504His) | SNV | Benign |
| Male | 60 | Sigmoid (left) | POLE | NC_000012.11:g.133219820A>G(p. Val1514Ala) | SNV | VUS |
| Male | 72 | Descending colon (left) | RAD50 | NC_000005.10:g.132588846A>G(p. Gln404Arg) | SNV | VUS |
| Female | 60 | Ascending colon (right) | ATM | NC_000011.10:g.108250816C>T(p. Arg451Cys) | SNV | VUS |
| Male | 68 | Ascending colon (right) | BRCA2 | NC_000013.11:g.32356461T>C(p. Ile2490Thr) | SNV | Benign |
| Male | 75 | Ascending colon (right) | POLD1 | NC_000019.9:g.50905089T>C(p. Val124Ala) | SNV | VUS |
| POLE | NC_000012.11:g.133202349G>A(p. Ala2180Val) | SNV | VUS | |||
| POLE | NC_000012.11:g.133237641C>T(p. Ala992Thr) | SNV | VUS | |||
| Female | 42 | Ascending colon (right) | ATR | NC_000003.11:g.142172064G>C(p. Thr2556Ser) | SNV | VUS |
| Male | 47 | Rectum | ATR | NC_000003.11:g.142281919G>A(p. Arg109Trp) | SNV | VUS |
| POLD1 | NC_000019.10:g.50402703G>A(p. Arg311His) | SNV | VUS | |||
| Male | 76 | Descending colon (left) | BRIP1 | NC_000017.10:g.59763416T>C(p. Ile896Val) | SNV | VUS |
| RAD50 | NC_000005.10:g.132588846A>G(p. Gln404Arg) | SNV | VUS | |||
| Female | 45 | Sigmoid (left) | BRCA2 | NC_000013.10:g.32910678T>C(p. Ile729Thr) | SNV | VUS |
| Female | 68 | Ascending colon (right), sigmoid (left) | BARD1 | NC_000002.11:g.215610562C>T(p. Arg565His) | SNV | VUS |
| BRCA2 | NC_000013.10:g.32913723G>T(p. Ser1744Ile) | SNV | VUS | |||
| Female | 43 | Ascending colon (right) | BLM | NC_000015.10:g.90769546A>G(p. Lys839Glu) | SNV | VUS |
| BRCA1 | NC_000017.11:g.43106514G>A(p. Leu52Phe) | SNV | VUS | |||
| Male | 61 | Rectum | APC | NC_000005.9:g.112173705G>A(p. Arg805Gln) | SNV | VUS |
| Male | 73 | Rectum | MUTYH | NC_000001.10:g.45797972G>A(p. Gln267Ter) | Stop gained | Pathogenic? |
| Male | 51 | Rectum | MLH3 | NC_000014.8:g.75515169_75515171del(p. Ile397del) | Deletion | VUS |
| Male | 53 | Sigmoid (left), rectum | BUB1B | NC_000015.9:g.40504755G>A(p. Arg814His) | SNV | VUS |
| Female | 44 | Rectum | MUTYH | NC_000001.10:g.45797972G>A(p. Gln267Ter) | Stop gained | Pathogenic |
| Male | 72 | Rectum | GALNT12 | NC_000003.11:g.37089020C>T(p. Pro240Leu) | SNV | VUS |
| Male | 37 | Ascending colon (right) | NTRK1 | NC_000005.9:g.112173705G>A(p. Arg780Gln) | SNV | VUS |
| Male | 70 | Ascending colon (right) | PTCH1 | NC_000009.12:g.95467197T>C(p. Ser761Gly) | SNV | VUS |
| Female | 36 | Rectum | CDH1 | NC_000016.9:g.68846047A>G(p. Thr340Ala) | SNV | Benign |
| Male | 45 | Rectum | CDH1 | NC_000016.9:g.68856080C>G(p. Leu630Val) | SNV | Benign |
| Male | 47 | Rectum | ATR | NC_000003.11:g.142281919G>A(p. Arg109Trp) | SNV | VUS |
| Female | 43 | Ascending colon (right) | ALK | NC_000002.11:g.29448339C>T(p. Gly1054Ser) | SNV | VUS |
| CHEK2 | NC_000022.10:g.29107934C>T(p. Ser252Asn) | SNV | VUS | |||
| Male | 48 | Ascending colon (right) | MLH3 | NC_000014.8:g.75515169_75515171del(p. Ile397del) | Deletion | VUS |
| Male | 50 | Ascending colon (right) | AXIN2 | NC_000017.10:g.63537574G>A(p. Pro353Leu) | SNV | VUS |
SNV, single nucleotide variant; VUS, variants of uncertain significance; FCCTX, familial colorectal cancer type X.