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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