Gene: [17p131/TP53] tumor protein p53; colorectal cancer-related sequence in chromosome 17p; Li-Fraumeni syndrome (LFS; MIM:151623); [LFS ]
GEN | The gene length is 20 kb. Exons: 11; introns: 10 (intron 1 is about 10 kb). |
PAT | The product of this gene is supposed to be an oncosuppressor; loss of the normal allele stimulates the fast progression of tumors, especially colorectal ones. This probably facilitates also the acutation of chronic myelogenous leukemia with Ph'-oncomarker (see Kelman-1989; GEM:09q341/ABL1; GEM:22q1122/BCR1)." |
HET | [1] The OMIM Catalogue
registered two colorectal tumor markers (CRC/MIM:114500 and
CRC17/MIM:120460, both located in Chr 17p1), basing on a number of reports
that demonstrated the loci of Chr 17p to be involved in pathogenesis of
many colorectal and other tumors (a so called phenomenon of 'loss of
oncosuppressor alleles'). Both these markers are absent in GDB, probably
because TP53 gene is located in the same region (p12-13.3), and its mutant
alleles play an important role in the progression of tumors, colorectal
ones in particular. The HUGEN also does not consider the MIM markers CRC
and CRC17 as specified loci. [2] The situation with the Chr 18q loci that are involved in colorectal tumor progression is quite similar. The corresponding marker CRC18 is registered in MIM:120470 but excluded from GDB (see GEM:18q211/DCC)." |
REL | GEM:00.0/TP53BP1; GEM:01q42/TP53BP2; GEM:01p36/TP73. |
REF | MUT "Aas T &: Nature
Med, 2, 811-814, 1996 MUT,CYG,PAT,COM "Baker SJ &: Science, 244, (14 Apr), 217-221, 1989 LOC "Benchimol S &: Somat Cell Mol Genet, 11, 505-509, 1985 REV "Beroud C &: NAR, 24, 147-150, 1996 MUT,GEN,POL,MOL "Buchman VL &: Gene, 70, 245-252, 1988 MUT "Chakrani F &: Int J Cancer, 61, 316-320, 1995 REV "De Vries EMG &: Hum Mut, 7, 202-213, 1996 FUN "Denissenko MF &: PNAS, 94, 3893-3898, 1997 FUN "Denissenko MF &: Science, 274, 430-434, 1996 MUT "Fagin JA &: J Clin Invest, 91, 179-184, 1993 MUT,CYG,PAT,COM "Fearon ER &: Science, 238, 193-197, 1987 MUT "Felix CA &: J Clin Invest, 89, 640-647, 1992 MUT,CYG,PAT,COM "Fogelstein B &: Science, 244, (14 Apr), 207-211, 1989 MUT "Frebourg T &: AJHG, 56, 608-615, 1995 CHR "Fukasawa K &: Science, 271, 1744-1747, 1996 REV "Hainaut P &: NAR, 25, 151-157, 1997 EXP,PRO "Harlow E &: Mol Cell Biol, 5, 1601-1610, 1985 MUT "Hollstein M &: NAR, 24, 141-146, 1996 LOC "Isobe M &: Nature, 320, 84-85, 1986 MUT,MOL,PAT "Kelman &: Blood, 74, N7, 2318-2324, 1989 GEN,SEQ,TRC "Lamb P, Crawford: Mol Cell Biol, 6, N5, 1379-1385, 1986 FUN "Levine AJ: Cell, 88, 323-331, 1997 MUT,CYG,PAT,COM "Lothe RA &: CCG, 48, 167-169, 1988 POL,MOL "Masharani U &: NAR, 16, N15, 7757, 1988 MUT,MOL,PAT,FUN,EXP "Masuda H &: PNAS, 84, N21, 7716-7719, 1987 MUT "Mazoyer S &: Oncogene, 9, 1237-1239, 1994 LOC "McBride OW &: PNAS, 83, N1, 130-134, 1986 LOC "Miller C &: Nature, 319, 783-784, 1986 MUT "Nakamura T &: PNAS, 92, 6142-6146, 1995 SEQ,MUT "Reisman D &: Genomics, 38, 364-370, 1996 MUT "Roth JA &: Nature Med, 2, 985-990, 1996 MUT,CYG,PAT,COM "Talbot IC: J Pathol, 156, 185-186, 1988 FUN,PAT "Ueda H &: Nature Genet, 9, 41-47, 1995 LOC,LIN "van Tuinen P &: AJHG, 43, 587-596, 1988 LIN,LOC "van Tuinen P, Ledbetter DH: CCG, 46, 708-709, 1987 MUT "Varley JM &: Oncogene, 12, 2437-2442, 1996 MUT "Varley JM &: J Med Genet, 32, 942-945, 1995 |
SWI | SWISSPROT: P04637 |
KEY | onc, git, hem |
CLA | coding, basic |
LOC | 17 p13.1 |
MIM | MIM: 191170 |
SYN | LFS |
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