DESCRIPTION
OF THE DATABASE
OF GERMLINE p53 MUTATIONS
Column A. Family number
| [number] |
Column B. Family classification
| LFS | Li-Fraumeni syndrome criteria according to Li (88) CR 48: 5358 |
| LFL | LFS-like criteria according to Birch (94) CR 54: 1298 |
| FH | family history of cancer |
| N | no family history |
| ? | unknown |
Column C. Type of the germline p53 mutation
| MIS | missense |
| NS | nonsense |
| DEL-IF | deletion £ 11 bp in frame |
| DEL-FS | deletion £ 11 bp with frameshift |
| INS-FS | insertion with frameshift |
| SPL | splicing |
| REA | rearrangement |
| BIGDEL | big deletion |
| DUP | duplication |
Column D. Exon affected
| [number] |
Column E. Codon affected
| [number] |
Column F. Nucleotide change
| [wt codon>mutated codon] |
Column G. Amino acid change
| [wt amino acid>mutated amino acid] |
Column H. Individual number (within the family)
[number]
? unknown
Column I. Individual identifier
| [identifier from the original report] |
Column J. Generation
| V | oldest |
| W | |
| X | |
| Y | |
| Z | youngest |
| ? | unknown |
Column K. Sex
| M | male |
| F | female |
| ? | unknown |
Column L. Carriership of the germline p53 mutation
C confirmed experimentally
O obligatory
? unknown
Column M. Mode of inheritance
M maternal
P paternal
Mnm new mutation in the maternal germline
NM new mutation
? unknown
Column N. Likely transmitting parent (or one of possible two in cases of bilineality or where no decision can be made)
[number of the individual (from column H)]
Column O. Second possible transmitting parent (in cases of bilineality or where no decision can be made)
[number of the individual (from column H)]
Column P. Tumour number (within the individual)
[number]
? unknown
Column Q. Tumour type
[description]
Column R. Age of onset (or death) in years
[number]
? unknown
Column S. Tumour p53 genotype
| LWT | loss of wild type allele |
| LM | loss of mutated allele |
| RHZ | retention of heterozygosity |
| RHZom | retention of heterozygosity but another p53 mutation detected |
| ? | unknown |
Column T. Tumour p53 immunostaining
Y yes
N no
? unknown
Column U. Reference(s)
[first-author´s-name (year) journal volume: first-page]
journal abbreviations:
AJCO Amer. J. Clin. Oncol.
AJH Am. J. Hematol.
AJHG Amer. J. Hum. Genet.
AJMG Amer. J. Med. Genet.
AJPHO Amer. J. Pediatr. Hematol. Oncol.
AN Ann. Neurol.
AR Anticancer Res.
B Blood
BBRC Biochem. Biophys. Res. Commun.
BCRT Breast Cancer Res. Treat.
BJC Brit. J. Cancer
BP Brain Pathol.
BR Breast
C Cancer
CC Cell Cycle
CGC Cancer Genet. Cytogen.
CGD Cell Growth Differ.
CL Cancer Lett.
CLH Clin. Lab. Haem.
CR Cancer Res.
DMP Diagn. Mol. Pathol.
EJC Eur. J. Cancer
FC Fam. Cancer
FCP(book) Utsunomiya, Mulvihill, Weber (eds) Familial Cancer and Prevention, Wiley 1999
G Gut
GCB Gastroenterol. Clin. Biol.
GCC Genes Chrom. Cancer
GE Gastroenterology
H Histopathology
HG Hum. Genet.
HM Hum. Mutat.
HMG Hum. Molec. Genet.
HMR Horm. Metab. Res.
IJC Int. J. Cancer
IM Intern. Med.
IMJ Intern. Med. J.
J JAMA
JBJS J. Bone Joint Surg.
JCEM J. Clin. Endocrinol. Metab.
JCI J. Clin. Invest.
JCO J. Clin. Oncol.
JCRCO J. Cancer Res. Clin. Oncol.
JECCR J. Exp. Clin. Cancer Res.
JHG J. Hum. Genet
JJCO Jpn. J. Clin. Oncol.
JKMS J. Korean Med. Sci.
JMG J. Med. Genet.
JMM J. Mol. Med.
JNCI J. Natl. Cancer Inst.
JNEN J. Neuropathol. Exp. Neurol.
JNO J. Neurooncol.
JPHO J. Pediatr. Hematol. Oncol.
L Lancet
LE Leukemia
LR Leukemia Res.
MC Med. Clin.
MCB Mol. Cell. Biol.
MP Mod Pathol
MPO Med. Pediatr. Oncol.
N Nature
NEJM New Engl. J. Med.
NEO Neoplasma
NG Nature Genet.
O Oncogene
OO Oral Oncology
P Pathologica
PBC Pediatr. Blood Cancer
PNAS Proc. Natl. Acad. Sci. USA
S Science
SMJ Scott. Med. J.
SMW Schweiz. Med. Wochenschr.
T Tumori