Cancer-associated genodermatoses and familial cancer syndromes with cutaneous manifestations

Clinics in Dermatology

Volumn 19, Issue 3, 2001, Pages 284-289

  Bale, Sherri J ^a,b,c   Digiovanna, John J ^a,b,c  

^a GENEDX   (United States)

^b BROWN UNIVERSITY   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE DISORDER; BASAL CELL CARCINOMA; BASAL CELL NEVUS SYNDROME; BLOOM SYNDROME; CANCER RISK; CLINICAL FEATURE; COWDEN SYNDROME; FAMILIAL CANCER; FANCONI RENOTUBULAR SYNDROME; GARDNER SYNDROME; GENE MAPPING; GENETIC AND FAMILIAL DISORDERS; GENETIC COUNSELING; GENODERMATOSIS; HUMAN; PRIORITY JOURNAL; REVIEW; SKIN CANCER; TELANGIECTASIA; XERODERMA PIGMENTOSUM;

HUMANS; MUTATION; SKIN DISEASES; SKIN NEOPLASMS;

EID: 0034919568     PISSN: 0738081X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0738-081X(01)00175-4     Document Type: Review

References (45)

1. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases
2. The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm
3. Heritable diseases with increased sensitivity to cellular injury
4. Xeroderma pigmentosum and related disorders; examining the linkage between defective DNA repair and cancer
5. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome
6. Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9
7. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome
8. Sonographic and DNA-based prenatal detection of Gorlin syndrome
9. Clinical aspects of familial cutaneous malignant melanoma
10. Dysplastic naevi and cutaneous melanoma risk
11. Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus
12. Mapping the gene for hereditary cutaneous malignant melanoma-dysplastic nevus to chromosome 1p
13. Further evidence for a locus for cutaneous malignant melanoma- dysplastic nevus (CMM/DN) on chromosome 1p, and evidence for genetic heterogeneity
14. Mutation testing in melanoma families; INK4A, CDK4 and INK4D
15. Mutations of the human PTEN gene
16. A genetic model for colorectal tumorigenesis
17. Analysis of masked mutations in familial adenomatous polyposis
18. Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9
19. Evidence for at least eight Fanconi anemia genes
20. The incidence of leukemia in families of patients with hypoplasia of the marrow
21. Fanconi anaemia complementation groups in Germany and The Netherlands. European Fanconi Anaemia Research group
22. The Fanconi anaemia proteins, FAA and FAC, interact to form a nuclear complex
23. Bloom syndrome; an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1
24. The Bloom's syndrome gene product is homologous to RecQ helicases
25. The incidence and gene frequency of ataxia-telangiectasia in the United States
26. Breast and other cancers in families with ataxia-telangiectasia
27. Cancer in homozygotes and heterozygotes of ataxia-telangiectasia and xeroderma pigmentosum in Britain
28. A single ataxia telangiectasia gene with a product similar to PI-3 kinase
29. Characterization of ATM gene mutations in 66 ataxia telangiectasia families
30. Rothmund-Thomson syndrome with osteosarcoma
31. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
32. The Muir-Torre syndrome; a 25-year retrospect
33. Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene?
34. Association of parathyroid tumors in multiple endocrine neoplasia type 1 with loss of alleles on chromosome 11
35. Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1
36. Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states
37. Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1
38. Parent-of-origin effects in multiple endocrine neoplasia type 2B
39. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
40. A telomerase component is defective in the human disease dyskeratosis congenita
41. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
42. Identification and characterization of the tuberous sclerosis gene on chromosome 16
43. Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity
44. The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis