Home > D. General pathology > Genetic and developmental anomalies > somatic mutations

somatic mutations

Wednesday 3 December 2003


- somatic mutations in tumors
- somatic mutations in diseases

  • neurofibromatosis 1
  • neurofibromatosis 2
  • incontinentia pigmenti
  • paroxysmal nocturnal hemoglobinuria
  • fibrous dysplasia (activating somatic mutations of the Gs alpha gene) (8541861)
  • Proteus syndrome
  • Klippel-Trenaunay syndrome
  • Maffuci syndrome


- DNA Double Take. http://www.nytimes.com/2013/09/17/science/dna-double-take.html?_r=0

See also

- somatic mutation detection


- Dalgliesh GL, Futreal PA. The continuing search for cancer-causing somatic mutations. Breast Cancer Res. 2007;9(1):101. PMID: 17319975

- Futreal PA, Wooster R, Stratton MR. Somatic mutations in human cancer: insights from resequencing the protein kinase gene family. Cold Spring Harb Symp Quant Biol. 2005;70:43-9. PMID: 16869737

- Weiss KM. Cryptic causation of human disease: reading between the (germ) lines. Trends Genet. 2005 Feb;21(2):82-8. PMID: 15661353

- Erickson RP. Somatic gene mutation and human disease other than cancer. Mutat Res. 2003 Mar;543(2):125-36. PMID: 12644182