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Literature DB >> 10389970

Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome.

E C Burt¹, G McGown, M Thorncroft, L A James, J M Birch, J M Varley.

Abstract

We have analysed Li-Fraumeni syndrome families, previously shown to be negative for mutations in TP53, for mutations to the tumour suppressor genes PTEN and CDKN2. These genes function in cell cycle progression or are mutated in a variety of tumours. We have detected no mutations in the family members tested.

Entities: Disease Gene

Mesh：

Substances：

Year: 1999 PMID： 10389970 PMCID： PMC2363026 DOI： 10.1038/sj.bjc.6690313

Source DB: PubMed Journal: Br J Cancer ISSN： 0007-0920 Impact factor: 7.640

15 in total

Review 1. The CDKN2A (p16) gene and human cancer.

Authors: W D Foulkes; T Y Flanders; P M Pollock; N K Hayward
Journal: Mol Med Date: 1997-01 Impact factor: 6.354

2. Germline p16 mutations in familial melanoma.

Authors: C J Hussussian; J P Struewing; A M Goldstein; P A Higgins; D S Ally; M D Sheahan; W H Clark; M A Tucker; N C Dracopoli
Journal: Nat Genet Date: 1994-09 Impact factor: 38.330

3. A study of the PTEN/MMAC1 gene in 136 breast cancer families.

Authors: J Chen; P Lindblom; A Lindblom
Journal: Hum Genet Date: 1998-01 Impact factor: 4.132

4. Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers.

Authors: P A Steck; M A Pershouse; S A Jasser; W K Yung; H Lin; A H Ligon; L A Langford; M L Baumgard; T Hattier; T Davis; C Frye; R Hu; B Swedlund; D H Teng; S V Tavtigian
Journal: Nat Genet Date: 1997-04 Impact factor: 38.330

5. PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer.

Authors: J Li; C Yen; D Liaw; K Podsypanina; S Bose; S I Wang; J Puc; C Miliaresis; L Rodgers; R McCombie; S H Bigner; B C Giovanella; M Ittmann; B Tycko; H Hibshoosh; M H Wigler; R Parsons
Journal: Science Date: 1997-03-28 Impact factor: 47.728

6. Mutations and altered expression of p16INK4 in human cancer.

Authors: A Okamoto; D J Demetrick; E A Spillare; K Hagiwara; S P Hussain; W P Bennett; K Forrester; B Gerwin; M Serrano; D H Beach
Journal: Proc Natl Acad Sci U S A Date: 1994-11-08 Impact factor: 11.205

7. Alternative reading frames of the INK4a tumor suppressor gene encode two unrelated proteins capable of inducing cell cycle arrest.

Authors: D E Quelle; F Zindy; R A Ashmun; C J Sherr
Journal: Cell Date: 1995-12-15 Impact factor: 41.582

Review 8. Cell-cycle regulators and cancer.

Authors: A Kamb
Journal: Trends Genet Date: 1995-04 Impact factor: 11.639

Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome.

Review 1. The CDKN2A (p16) gene and human cancer.

2. Germline p16 mutations in familial melanoma.

3. A study of the PTEN/MMAC1 gene in 136 breast cancer families.

4. Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers.

5. PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer.

6. Mutations and altered expression of p16INK4 in human cancer.

7. Alternative reading frames of the INK4a tumor suppressor gene encode two unrelated proteins capable of inducing cell cycle arrest.

Review 8. Cell-cycle regulators and cancer.

9. A cancer family syndrome in twenty-four kindreds.

10. Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families.

1. Li-fraumeni syndrome.

2. Does PTEN gene mutation play any role in Li-Fraumeni syndrome.

3. The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.