Column A. Family 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


    Column E. Codon affected


    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)


? unknown

    Column I. Individual identifier

[identifier from the original report]

    Column J. Generation

V oldest
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)


? unknown

    Column Q. Tumour type


    Column R. Age of onset (or death) in years


? 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.


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