Cancer predisposition are related to anomalies of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis.
Classification
anomalies of DNA metabolism
dysregulation of telomere shortening
- dyskeratosis congenita (DKC)
DNA repair anomalies
- DNA mismatch repair anomalies (HNPCC)
- base excision repair anomalies (BER)
- ataxia telangiectasia (ATM)
-
DNA helicases mutations
- Bloom syndrome : mutations in the DNA helicase RecQ protein-like-3 (MIM.604610)
- Cockayne syndrome
- Diamond-Blackfan anemia (DBA)
- Fanconi disease (Fanconi syndrome or Fanconi anemia)
- Xeroderma pigmentosum
- trichothiodystrophy (TTD)
- Werner syndrome
DNA checkpoint anomalies
- Li-Fraumeni syndrome (TP53)
cell-cycle governance
- retinoblastoma predisposition (RB)
control of apoptosis
growth signal signal transduction
- transmembrane receptors
- Bannayan-Riley-Ruvalcaba syndrome
- Cowden Disease
- cytoplasmic proteins
- Costello syndrome (HRAS)
-
transcription factors
-
WT1-associated diseases (WT1)
- Denys-Drash syndrome (WT1)
- WAGR (Wilms tumor/aniridia/genitourinary anomalies/mental retardation syndrome) (11p13 deletion)
-
WT1-associated diseases (WT1)
methylation control
- Beckwith-Wiedemann syndrome (11p15.5)
adhesion proteins
- familial gastric carcinoma (CDN1 mutations)
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
- Down syndrome
- constitutional trisomy 8 mosaicism (8616798, 8913726)
- Turner syndrome
- Klinefelter syndrome
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 (INI1/SNF5) | 22q11 | |||
| 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 | - | - |
References
Frank SA. Genetic predisposition to cancer - insights from population genetics. Nat Rev Genet. 2004 Oct;5(10):764-72. PMID: 15510167
Lerman C, Shields AE. Genetic testing for cancer susceptibility: the promise and the pitfalls. Nat Rev Cancer. 2004 Mar;4(3):235-41. PMID: 14993905
Demant P. Cancer susceptibility in the mouse: genetics, biology and implications for human cancer. Nat Rev Genet. 2003 Sep;4(9):721-34. PMID: 12951573
Eng C, Kiuru M, Fernandez MJ, Aaltonen LA. A role for mitochondrial enzymes in inherited neoplasia and beyond. Nat Rev Cancer. 2003 Mar;3(3):193-202. PMID: 12612654