Inherited p53 gene mutations in breast cancer. Cancer Res. 1992; 52 :2984–2986.Sidransky D, Tokino T, Helzlsouer K, Zehnbauer B, Rausch G, Shelton B, Prestigiacomo L, Vogelstein B, Davidson N: Inherited p53 gene mutations in breast cancer. Cancer Res 1992, 52 : 2984-6. PubMed ...
6. F. Laumonnieret al., Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.Mol Psychiatry15, 767-776 (2010). ...
TP53, which encodes p53, is a tumour suppressor gene that is frequently mutated in sporadic cancers. The mutations are usually single base substitutions that disrupt function, and some confer new oncogenic (gain-of-function) properties. Over 200 single nucleotide polymorphisms (SNPs; germline variant...
In colorectal cancers, the smallest common region of deletion is centred at 17pl3.1 (ref. 9); this region harbours the p53 gene and in two tumours examined in detail, the remaining (non-deleted) p53 alleles were found to contain mutations 9 . This result was provocative because allelic ...
(Nigroet al. 1989). This result not only catapulted p53 into the center stage of human tumor research, but also provided cogent evidence that p53 was actually a tumor suppressor gene. This conclusion was confirmed by the subsequent findings that patients with inherited mutations of p53 were ...
Mutations of the P53 gene in human functional adrenal neoplasms Lin SR, Lee YJ & Tsai JH 1994 Mutations of the p53 gene in human functional adrenal neoplasms. Journal of Clinical Endocrinology and Metabolism 78 483-491. (doi:10.1210/jcem.78.2.8106638) SR Lin,YJ Lee,JH Tsai - 《Journal of...
TUMOUR suppressor genes, whose usual function seems to be controlling normal cell proliferation1,2, have been implicated in many inherited and sporadic forms of malignancies (for reviews, see refs 3 and 4). Much evidence supports the concept of tumour formation by loss-of-function mutations in ...
AIMS: To attempt to detect p53 gene mutations in the plasma of patients with large bowel carcinoma. METHODS: Plasma was collected from 20 control patients with no history of cancer and from 17 patients with large bowel carcinoma. Corresponding tumour and benign lymph node (control) samples for ...
33 Mutations in APC, β-catenin, or Axin have been identified in approximately 25% of sporadic medulloblastomas.34, 35, 36, 37 Li Fraumeni syndrome is caused by inherited mutations in the p53 tumor suppressor gene (reviewed in38). Affected individuals develop a large spectrum of CNS and ...
Schinzel-Giedion syndrome (SGS) is a fatal developmental syndrome caused by mutations in the SETBP1 gene, inducing the accumulation of its protein product. SGS features multi-organ involvement with severe intellectual and physical deficits due, at least in part, to early neurodegeneration. Here we ...