| AAPC | attenuated adenomatous polyposis coli |
| ActR-IB | activin A receptor, type I B |
| ALK1 | activin receptor-like kinase 1 gene |
| APC | adenomatous polyposis coli gene |
| bp | base pair |
| BRCA1 | breast and ovarian cancer 1 gene |
| BRCA2 | breast and ovarian cancer 2 gene |
| BMP | bone morphogenetic protein |
| BRR | Bannayan-Riley-Ruvalcaba syndrome |
| BZS | Bannayan-Zonana syndrome |
| CS | Cowden syndrome |
| CDKN2 | cyclin dependent kinase inhibitor gene 2 |
| cDNA | complementary deoxyribonucleic acid |
| CEPH | Centre dÉtudes du Polymorphisme Humain |
| CGH | comparative genomic hybridization |
| CHRPE | congenital hypertrophy of the retinal pigment epithelium |
| cM | centiMorgan |
| c-MYC | cellular proto-oncogene homologous to myelocytomatosis virus oncogene |
| CRC | colorectal carcinoma |
| dATP | deoxyadenosine triphosphate |
| DCC | deleted in colorectal cancer gene |
| dCTP | deoxycytosine triphosphate |
| DGGE | denaturate gradient gel electrophoresis |
| dGTP | deoxyguanosine triphosphate |
| DNA | deoxyribonucleic acid |
| DPC4 | deleted in pancreatic carcinoma 4 gene |
| dpp | decapentaplegic gene (Drosophila BMP homolog) |
| dTTP | deoxythymidine triphosphate |
| EDTA | ethylene dinitrilotetra-acetic acid |
| FAP | familial adenomatous polyposis |
| GI | gastrointestinal |
| GS | Gardner syndrome |
| HHT1 | hereditary haemorrhagic telangiectasia type 1 |
| HHT2 | hereditary haemorrhagic telangiectasia type 2 |
| HMPS | hereditary mixed polyposis syndrome |
| HNPCC | hereditary non-polyposis colorectal cancer |
| JP | juvenile polyposis |
| JP1 | putative juvenile polyposis locus 1 |
| kb | kilobase |
| KRAS2 | Kirsten rat sarcoma 2 viral oncogene homolog |
| LKB1 | serine/threonine protein kinase gene (also known as STK11) |
| lod | logarithm of odds |
| LOH | loss of heterozygosity |
| Mad | Drosophila mother against dpp gene |
| MCC | mutated in colorectal cancer gene |
| MH1 | Mad homology domain 1 |
| MH2 | Mad homology domain 2 |
| MLH1 | mutator L homolog 1 gene |
| MMAC1 | mutated in multiple advanced cancers 1 gene |
| mRNA | messenger ribonucleic acid |
| M-MLV | Moloney murine leukemia virus |
| MSH2 | mutator S homolog 2 gene |
| MSH6 | mutator S homolog 6 gene |
| MSI | microsatellite instabile |
| MSS | microsatellite stable |
| N-CAM1 | neural cell adhesion molecule 1 |
| p | short arm of the chromosome |
| p16 | gene encoding protein 16 also know as CDKN2 |
| PAGE | polyacrylamide gel electrophoresis |
| PJS | Peutz-Jeghers syndrome |
| PCR | polymerase chain reaction |
| PHTS | PTEN-hamartoma-tumor syndrome |
| PI-3 | phoshatidylinositol 3 |
| PKB | protein kinase B |
| PMS1 | postmeiotic segregation 1 gene |
| PMS2 | postmeiotic segregation 2 gene |
| Ptd-Ins (3,4,5)P3 | phosphotidylinositol-3,4,5-triphosphate |
| PTEN | phosphatase and tensin homolog deleted on chromosome ten gene |
| q | long arm of the chromosome |
| RACE | rapid amplification of cDNA ends |
| RB1 | retinoblastoma 1 gene |
| RNA | ribonucleic acid |
| RT-PCR | reverse transcription polymerase chain reaction |
| Sma | C. elegans homolog of Drosophila Mad gene |
| SMAD | human homolog of Drosophila Mad gene |
| Smad3 | mouse homolog of SMAD3 gene |
| SRP19 | ribosomal signal recognition particle gene |
| SSCP | single strand conformation polymorphisms |
| STK11 | serine-threonine kinase 11 gene |
| TB2 | gene locating in 5q21, also known as DP1 (deleted in polyposis) gene |
| Tcf-4 | T-cell factor-4 |
| TGFβ | transforming growth factor beta |
| TGFβRII | transforming growth factor beta type II receptor gene |
| TP53 | tumor protein p53 gene |
| UTR | untranslated region |
| VHL | von Hippel-Lindau syndrome gene |