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Tumor predisposition syndrome 3
- ... way. Mutations in the BAP1 gene cause BAP1 tumor predisposition syndrome. People with this condition have an increased risk ... other forms of cancer are linked to BAP1 tumor predisposition syndrome.Affected individuals inherit a mutation in one copy ...
- ... gene have been identified in people with rhabdoid tumor predisposition syndrome (RTPS). RTPS is characterized by a high risk ... M, Ciabattoni S, Sangiuolo FC, Papi L. Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of ...
- ... gene have been identified in people with rhabdoid tumor predisposition syndrome (RTPS). RTPS is characterized by a high risk ... of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. Am J Hum Genet. 2010 Feb 12;86( ...
- ... In other families, mutations can lead to a cancer predisposition syndrome, which increases the risk of developing multiple types of cancer. CDKN2A gene mutations involved in cancer impair production ...
- ... Moore GE. The genetic aetiology of Silver-Russell syndrome. J Med Genet. 2008 ... Pathol. 2014 May;21(3):166-73. doi: 10.1097/PAP.0000000000000017. Citation ...
- ... Baird DM. Variation at the TERT locus and predisposition for cancer. Expert Rev ... disorders. Expert Rev Hematol. 2013 Jun;6(3):327-37. doi: 10.1586/ehm.13.23. ...
- ... WWP1 Gain-of-Function Inactivation of PTEN in Cancer Predisposition. N Engl J Med. 2020 May 28;382( ...
- ... PubMed Turner JT, Brzezinski J, Dome JS. Wilms Tumor Predisposition. 2003 Dec 19 [updated 2022 Mar 24]. In: ...
- ... Rahman N. Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature. 2013 Jan 17;493(7432):406-10. ...
- ... chronic myelomonocytic leukemia (CMML), familial platelet disorder with predisposition to acute myeloid leukemia, and myelodysplastic syndromes (MDS). Depending on the type of mutation, these ...