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tumor predisposition syndromes

Thursday 19 June 2003

cancer prone diseases, tumoral predisposition syndrome, cancer predisposition syndrome, tumor prone diseases, cancer susceptibility

Cancer predisposition are related to anomalies of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis.


- anomalies of DNA metabolism

- dysregulation of telomere shortening

- DNA repair anomalies

- DNA checkpoint anomalies

- cell-cycle governance

- control of apoptosis

- growth signal signal transduction

  • transcription factors

- methylation control

- adhesion proteins

To class

- Bruton agammaglobulinemia
- Carney complex
- congenital neutropenia
- diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH)
- Dubowitz syndrome
- dysplastic nevus syndrome (DNS)
- epidermodysplasia verruciformis
- familial /sporadic gastrointestinal stromal tumors (GISTs)
- familial chronic lymphocytic leukaemia
- familial gastric carcinoma (CDN1 mutations)
- familial monosomy 7 syndrome
- familial adenomatous polyposis (FAP)
- familial nervous system tumour syndromes
- hereditary pancreatic carcinoma
- hereditary paraganglioma (PGL)
- hereditary breast cancer
- hereditary multiple exostoses (HME)
- hereditary non polyposis colorectal carcinoma (HNPCC Syndrome)
- hereditary papillary renal cell carcinoma
- hyperparathyroidism-jaw tumor syndrome (HPT-JT)
- Lhermitte-Duclos disease
- multiple Endocrine Neoplasia type 1 (MEN1)
- multiple Endocrine Neoplasia type 2 (MEN2)
- naevoid basal cell carcinoma syndrome (NBCS)
- neurofibromatosis type 1 (NF1)
- neurofibromatosis type 2 (NF2)
- Nijmegen breakage syndrome
- Peutz-Jeghers syndrome
- piebaldism
- Rothmund-Thomson syndrome (RTS)
- Rubinstein-Taybi syndrome (RTS)
- Simpson-Golabi-Behmel syndrome
- Sotos syndrome
- Sturge-Weber syndrome
- tuberous sclerosis (TSC)
- variegated aneuploidy related to premature centromere division (PCD)
- Von Hippel-Lindau disease (VHL)

- metabolic enzymes anomalies

  • cutaneous and uterine leiomyomatosis(MIM.150800): mutations in fumarate hydratase (FH) or fumarase
  • hereditary leiomyomatosis and renal cell cancer syndrome (MIM.605839): mutations in fumarate hydratase (FH) or fumarase
  • predisposition to paraganglioma: mutations in three of the succinate dehydrogenase (SDH, mitochondrial complex II) subunits (SDHD, SDHB and SDHC)

- chromosomal diseases

Diseases by alphabetic orders

ataxia telangiectasia ATM 11q22.3
Bannayan-Ruvalcaba-Riley syndrome PTEN 10q23.31
Beckwith-Wiedemann syndrome - 11p15.5
Birt-Hogg-Dube syndrome FLCN 17p11.2
Bloom syndrome RECQL3 15q26.1
Bruton agammaglobulinemia BTK Xq21.3-q22
Carney complex 1 PRKAR1A 17q23-q24
Carney complex 2 - 2p16
Carney triad - -
Cockayne syndrome A ERCC8 5q11
Cockayne syndrome B ERCC6 10q11
Cockayne syndrome C - -
severe congenital neutropenia 1 ELA2 19p13.3
severe congenital neutropenia 2 GFI1 1p22
Costello syndrome HRAS 11p15.5
Cowden disease PTEN 10q23.31
Denys-Drash syndrome WT1 11p13
Diamond-Blackfan anemia 1 RPS19 19q13.2
Diamond-Blackfan anemia 2 - 8p23.3-p22
diaphyseal medullary stenosis with MFH - 9p22-p21
Dubowitz syndrome - -
dyskeratosis congenita autosomal dominant TERC 3q21-q28
dyskeratosis congenita X-linked DKC1 Xq28
dyskeratosis congenita autosomal recessive - -
dysplastic nevus syndrome - -
epidermodysplasia verruciformis 1 EVER1 17q25
epidermodysplasia verruciformis 2 EVER2 17q25
familial GISTs KIT 4q12
familial chronic lymphocytic leukemia - -
familial cutaneous malignant melanoma 1 CMM1 - 1p36
familial cutaneous malignant melanoma 2 CMM2 CDKN2 9p21
familial cutaneous malignant melanoma 3 CMM3 CDK4 12q14
familial cutaneous malignant melanoma 4 CMM4 - 1p22
familial gastric carcinoma CDH1 MIM.192090 16q22.1
familial monosomy 7 Syndrome
familial adenomatous polyposis APC 5q22
familial nervous system tumour syndrome
familial neuroblastoma 1 PHOX2B 16p12-13
familial neuroblastoma 2 - 4p12
Fanconi syndrome (Fanconi anemia)
Fanconi anemia A (FANCA) FANCA 16q24.3
Fanconi anemia B (FANCB) FAAP95 Xp22.31
Fanconi anemia C (FANCC) - 9q22.3
Fanconi anemia D1 (FANCD1) BRCA2 13q12.3
Fanconi anemia D2 (FANCD2) - 3p25.3
Fanconi anemia E (FANCE) - 6p22-p21
Fanconi anemia F (FANCF) - 11p15
Fanconi anemia G (FANCG) - 9p13
hereditary pancreatic cancer - -
hereditary paraganglioma 1 (PGL1) SDHD 11q23
hereditary paraganglioma 2 (PGL2) - 11q13
hereditary paraganglioma 3 (PGL3) SDHC 1q21
hereditary paraganglioma 4 (PGL4) SDHB 1p36
hereditary breast cancer 1 BRCA1 -
hereditary breast cancer 2 BRCA2 -
hereditary multiple exostoses 1 EXT1 8q24
hereditary multiple exostoses 2 EXT2 11p12-p11
hereditary multiple exostoses 3 - 19p
hereditary non polyposis colorectal carcinoma - HNPCC
hereditary papillary renal cell carcinoma MEt 7q31
hyperparathyroidism-jaw tumor syndrome -HPT-JT 1q25-q31 1q25-q31
juvenile polyposis syndrome SMAD4 18q21.1
juvenile polyposis syndrome with HHT SMAD4 18q21.1
leiomyomatosis and renal cell cancer FH 1q42.1
leiomyomatosis of the skin FH 1q42.1
Lhermitte-Duclos disease PTEN 10q23.31
Li-Fraumeni syndrome TP53 17p13.1
multiple Endocrine Neoplasia type 1 MEN1 11q13
multiple Endocrine Neoplasia type 2 RET 10q11.2
basal cell nevus syndrome 1 (BCNS1) PTCH1 9q22.3
basal cell nevus syndrome 2 (BCNS2) PTCH2 1p32
neurofibromatosis type 1 NF1 17q11.2
neurofibromatosis type 1 MLH1 3p21.3
neurofibromatosis type 1 MSH2 2p22-p21
neurofibromatosis type 2 NF2 22q12.2
Nijmegen breakage syndrome NBS1 8q21
Peutz-Jeghers syndrome STK11 19p13.3
piebaldism 1 KIT 4q11-q12
piebaldism 2 SNAI2 8q11
retinoblastoma RB 13q14.1-q14.2
Rhabdoid predisposition syndrome SMARCB1
Rothmund-Thomson syndrome RECQL4 8q24.3
Rubinstein-Taybi syndrome 1 CREBBP 16p13.3
Rubinstein-Taybi syndrome 2 EP300 22q13
Simpson-Golabi-Behmel syndrome 1 SGBS1 GPC3 Xq26
Simpson-Golabi-Behmel syndrome 2 SGBS2 - Xp22
Sotos syndrome XH2 Xq13
Sturge-Weber syndrome - -
trichothiodystrophy photosensitive 1 (TTDP1) ERCC2 19q13.2-q13.3
trichothiodystrophy photosensitive 2 (TTDP2) ERCC3 2q21
trichothiodystrophy non photosensitive C7ORF11 7p14
tuberous sclerosis 1 (TSC1) TSC1 9q34
tuberous sclerosis 2 (TSC2) TSC2 16p13.3
tuberous sclerosis 3 (TSC3) - -
tuberous sclerosis 4 (TSC4) - -
variegated aneuploidy with premature centromere division - -
Von Hippel-Lindau disease VHL 3p26-p25
WAGR syndrome WT1 11p13
Werner syndrome typical RECQL2 8p12-p11.2
Werner syndrome atypical LMNA 1q21.2
Wilms tumor predispostion WT1 11p13 xeroderma pigmentosum A XPA 9q22.3
xeroderma pigmentosum B ERCC3 2q21
xeroderma pigmentosum C XPC 3p25
xeroderma pigmentosum D ERCC2 19q13.2-q13.3
xeroderma pigmentosum E DDB2 11p12-p11
xeroderma pigmentosum F ERCC4 16p13.3-p13.13
xeroderma pigmentosum G ERCC5 13q33
xeroderma pigmentosum H - -
xeroderma pigmentosum I - -


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PMID: 12612654