Hamartomatous polyposis syndromes: Molecular genetics, neoplastic risk, and surveillance recommendations

Annals of Surgical Oncology

Volumn 8, Issue 4, 2001, Pages 319-327

  Wirtzfeld, D A ^a   Petrelli, N J ^a   Rodriguez Bigas, M A ^a  

^a ROSWELL PARK CANCER INSTITUTE   (United States)

Author keywords

Hamartomatous polyposis syndromes; Molecular genetics; Surveillance

Indexed keywords

GENE PRODUCT; PROTIEN LKB1; SMAD4 PROTEIN; TRANSFORMING GROWTH FACTOR BETA; UNCLASSIFIED DRUG;

ARTICLE; BREAST CANCER; CANCER EPIDEMIOLOGY; CANCER INVASION; CANCER RISK; COLON CARCINOGENESIS; COLON POLYPOSIS; COWDEN SYNDROME; EPITHELIUM DYSPLASIA; GENE MUTATION; GERM LINE; HUMAN; MOLECULAR GENETICS; PEUTZ JEGHERS SYNDROME; SIGNAL TRANSDUCTION; THYROID CANCER; TUMOR GROWTH; TUMOR SUPPRESSOR GENE;

ADENOMATOUS POLYPOSIS COLI; ADOLESCENT; ADULT; AGE OF ONSET; AGED; CELL TRANSFORMATION, NEOPLASTIC; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENES, TUMOR SUPPRESSOR; GERM-LINE MUTATION; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; MALE; MIDDLE AGED; NEOPLASM INVASIVENESS; PEDIGREE; PEUTZ-JEGHERS SYNDROME; POINT MUTATION; RISK FACTORS; SIGNAL TRANSDUCTION; TRANSFORMING GROWTH FACTOR BETA;

EID: 0035011886     PISSN: 10689265     EISSN: None     Source Type: Journal    
DOI: 10.1245/aso.2001.8.4.319     Document Type: Article

References (45)

1. Hereditary gastrointestinal polyposis syndromes
2. The multistep nature of cancer
3. Landscaping the cancer terrain
4. Juvenile polyposis coli
5. Juvenile polyposis
6. Colorectal neoplasia in juvenile polyposis or juvenile polyposis
7. Juvenile gastrointestinal polyposis in a female infant: Report of a case and review of the literature of a recently recognized syndrome
8. A juvenile polyposis tumor suppressor locus at 10q22 is deleted from nonepithelial cells in the lamina propria
9. PTEN germ-line mutations in juvenile polyposis coli
10. Germ-line mutations of the PTEN gene in Cowden's disease, an inherited breast and thyroid cancer syndrome
11. Germ-line mutations in PTEN are present in Bannayan-Zonana syndrome
12. Somatic deletions and mutations in the Cowden Disease gene, PTEN, in sporadic thyroid tumors
13. Mutations in the SMAD4/DPC4 gene in juvenile polyposis
14. Juvenile polyposis-a precancerous condition
15. Screening SMAD1, SMAD2, SMAD3 and SMAD5 for germline mutations in juvenile polyposis syndrome
16. Malignant potential in intestinal juvenile polyposis syndromes
17. Direct genetic testing for SMAD4 mutations in patients at risk for juvenile polyposis
18. Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane
19. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits
20. Hamartomatous polyposis
21. Localization of a susceptibility locus for Peutz-Jegher's syndrome to 19p using comparative genomic hybridization and targeted linkage analysis
22. Allelic imbalance at the LKB1 (STK11) locus on 19p13.3 in hamartomas, adenomas and carcinomas from patients with Peutz-Jegher's syndrome provides evidence for a hamartoma-(adenoma)-carcinoma sequence
23. Epigenetic inactivation of LKB1 in primary tumors associated with the Peutz-Jeghers syndrome
24. Increased risk of cancer in the Peutz-Jeghers syndrome
25. Cancer and the Peutz-Jeghers syndrome
26. Cancer in Peutz-Jeghers syndrome
27. Intestinal carcinoma in the Peutz-Jeghers syndrome
28. Polyposis: The Peutz-Jeghers syndrome
29. Assessment and counseling for familial breast cancer risk: A guide for clinicians
30. Cowden's disease: A possible new symptom complex with multiple system involvement
31. Cowden's disease (multiple hamartoma syndrome)
32. Cowden syndrome
33. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome
34. Localization of the gen for Cowden disease to chromosome 10q22-23
35. Differential loss of heterozygosity in the region of the Cowden locus within 10q22-23 in follicular thyroid adenomas and carcinomas
36. Identification of a candidate suppressor gene MMAC1 at chromosome 10q22-23.3 that is mutated in multiple advanced cancers
37. PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast and prostate cancer
38. Disruption of the MMAC1/PTEN gene by deletion or mutation is a frequent event in malignant melanoma
39. Cowden syndrome
40. The Cowden syndrome. A clinical and genetic study in 21 patients
41. Cowden disease. Report of a family and review
42. Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia
43. Bannayan-Riley-Ruvalcaba syndrome
44. Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23
45. Absence of PTEN/MMAC1 germline mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome