| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.350 | GeneticVariation | disease | ORPHANET | Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma. | 28592523 | 2017 | ||||
|
0.350 | GeneticVariation | disease | ORPHANET | To our knowledge, this is the first report of a germline gross deletion of the <i>CDKN2A-CDKN2B</i> locus in an LFS family. | 29263814 | 2016 | ||||
|
0.350 | Biomarker | disease | BEFREE | In addition, we found that p16 (INK4a) is also downregulated in immortal cells and that coexpression of CREG1 and p16 (INK4a) , an inhibitor of CDK4/6 and Rb phosphorylation, has a greater effect than either CREG1 and p16 (INK4a) alone to reduce cell growth, induce cell cycle arrest and cellular senescence in immortal LFS fibroblasts, osteosarcoma and fibrosarcoma cell lines. | 21263217 | 2011 | ||||
|
0.350 | AlteredExpression | disease | BEFREE | In p53-deficient (LFS) fibroblasts, on the other hand, replicative senescence and ionizing radiation-triggered accelerated senescence strongly correlated with expression of p16 but not of p21. | 20039273 | 2010 | ||||
|
0.350 | GeneticVariation | disease | BEFREE | This article traces the historical aspects of hereditary cancer dealing with identification and ultimate molecular genetic confirmation of commonly occurring cancers, particularly of the colon in the case of familial adenomatous polyposis and its attenuated form, both due to the APC germline mutation; the Lynch syndrome due to mutations in mismatch repair genes, the most common of which were found to be MSH2, MLH1, and MSH6 germline mutations; the hereditary breast-ovarian cancer syndrome with BRCA1 and BRCA2 germline mutations; the Li-Fraumeni (SBLA) syndrome due to the p53 mutation; and the familial atypical multiple mole melanoma in association with pancreatic cancer due to the CDKN2A (p16) germline mutation. | 15264268 | 2004 | ||||
|
0.350 | GeneticVariation | disease | BEFREE | P16INK4A codon 94 mutation observed in our family is a novel mutation in Li-Fraumeni syndrome. | 10484981 | 1999 | ||||
|
0.350 | GeneticVariation | disease | BEFREE | Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome. | 10389970 | 1999 |