Gene: [05q2/APC] adenomatous polyposis of the colon; [FAP FPC ]
PAT | [1] More
than 10 clinical morphologic forms of polyposis of the colon (PC) are
known. Most of them has been considered as allelic variants of several
major and independently inherited forms. Among them are: 1- the proper PC
(FAP/FPC; MIM:175100) with only colonic polyposis including Gardner form
(or syndrome) when PC is accompanied by benign tumors in various tissues;
2- Peutz-Jeghers syndrome (MIM:175200) with total gastro-intestinal tract
damage by polyps having specific morphologic features; 3- the juvenile form
of PC (MIM:174900). [2] In various recent studies, including formal and molecular genetic ones, the PC and the Gardner form are not distinguished as a rule, therefore PC is considered as a variant of Gardner syndrome, i.e. both forms have a common genetic basis. [3] The putative pathogenetic marker is ornithine decarboxylase 1 activity increase (GEM:02p25/ODC1)." |
FOG | Inheritance: autosomal dominant, penetrance is about 0.7. |
HET | The familial aggregation of APC (primarily benign pathology with consequent malignancy) and primary colon cancer (without preceding polyposis) has been shown to be caused by a common pleiotropic gene. There are data about the possible tumor antigen TP53 (GEM:17p131/TP53) participation in colon polyp malignancy and about a role of Ki-ras protooncogene in this process (see GEM:12p121/KRAS2)." |
POP | The epidemiologic and population studies of APC in various regions do not reveal significant differences in the main features. Thus, in Moscow population the APC frequency is about 1:48000, heterozigosity (rate of mutant gene carriers) is about 5.65:100000 (1:18000), gene frequency is 2.83:100000, fitness (for gene carriers) is 0.76, and selection coefficient is 0.24." |
LIN | APC is linked with D5S37 [4.8cM][app.5Mb](Nakamura-1988). |
REF | PAT,FOG,POP,MGC "Altshuler &: Genetika, 21, N8, 1380-1386,
1985 PAT,FOG,POP,MGC "Bazhenova &: Genetika, 21, N9, 1567-1575, 1985 LOC,LIN,MOL "Bodmer WF &: Nature, 328, (13 Aug), 614-616, 1987 PAT "Bos JL &: Nature, 327, (28 May), 293-297, 1987 PAT,FOG,POP,MGC "Ginsburg &: AJHG, 44, 191-197, 1989 LIN,MAP "Kinzler KW &: Science, 253, 661-665, 1991 LOC,LIN,MOL "Leppert M &: Science, 238, 1411-1413, 1987 PAT,FOG,POP,MGC "Luk, Baylin: New Engl J Med, 311, 80-83, 1984 PAT,FOG,POP,MGC "Lynch &: Cancer Genet Cytogenet, 28, 245-251, 1987 LOC,LIN,MOL "Meera Khan P &: Hum Genet, 79, 183-185, 1988 MAG,LIN,POL "Nakamura Y &: AJHG, 43, 638-644, 1988 LOC,PRO "Poustka A &: Nature, 325, 353-355, 1987 LOC,LIN,MOL "Solomon E &: Nature, 328, (13 Aug), 616-619, 1987 PAT "Talbot I: J Pathol, 156, 185-186, 1988 |
SWI | SWISSPROT: P25054 |
KEY | onc, git |
CLA | coding, basic |
LOC | 05 q21-22 |
MIM | MIM: 175100 |
SYN | FAP FPC |
