A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms

James, C. et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 434, 1144–1148 (2005).

Kralovics, R. et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N. Engl. J. Med. 352, 1779–1790 (2005).

Levine, R.L. et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 7, 387–397 (2005).

Baxter, E.J. et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 365, 1054–1061 (2005).

Scott, L.M. et al. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N. Engl. J. Med. 356, 459–468 (2007).

Pikman, Y. et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med. 3, e270 (2006).

Pardanani, A.D. et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood 108, 3472–3476 (2006).

Plo, I. et al. JAK2 stimulates homologous recombination and genetic instability: potential implication in the heterogeneity of myeloproliferative disorders. Blood 112, 1402–1412 (2008).

Kralovics, R. et al. Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders. Blood 108, 1377–1380 (2006).

Kralovics, R. Genetic complexity of myeloproliferative neoplasms. Leukemia 22, 1841–1848 (2008).

Levi, S. et al. Multiple K-ras codon 12 mutations in cholangiocarcinomas demonstrated with a sensitive polymerase chain reaction technique. Cancer Res. 51, 3497–3502 (1991).

Sozzi, G. et al. Genetic evidence for an independent origin of multiple preneoplastic and neoplastic lung lesions. Cancer Res. 55, 135–140 (1995).

Moskaluk, C.A., Hruban, R.H. & Kern, S.E. p16 and K-ras gene mutations in the intraductal precursors of human pancreatic adenocarcinoma. Cancer Res. 57, 2140–2143 (1997).

Laghi, L. et al. Lack of mutation at codon 531 of SRC in advanced colorectal cancers from Italian patients. Br. J. Cancer 84, 196–198 (2001).

Agaimy, A. et al. Multiple sporadic gastrointestinal stromal tumors (GISTs) of the proximal stomach are caused by different somatic KIT mutations suggesting a field effect. Am. J. Surg. Pathol. 32, 1553–1559 (2008).

Li, S. et al. Clonal heterogeneity in polycythemia vera patients with JAK2 exon12 and JAK2–V617F mutations. Blood 111, 3863–3866 (2008).

Pardanani, A., Fridley, B.L., Lasho, T.L., Gilliland, D.G. & Tefferi, A. Host genetic variation contributes to phenotypic diversity in myeloproliferative disorders. Blood 111, 2785–2789 (2008).

Laken, S.J. et al. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat. Genet. 17, 79–83 (1997).

Mechanic, L.E. et al. Common genetic variation in TP53 is associated with lung cancer risk and prognosis in African Americans and somatic mutations in lung tumors. Cancer Epidemiol. Biomarkers Prev. 16, 214–222 (2007).

Lin, M. et al. dChipSNP: significance curve and clustering of SNP-array-based loss-of-heterozygosity data. Bioinformatics 20, 1233–1240 (2004).

Purcell, S. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559–575 (2007).

Barrett, J.C., Fry, B., Maller, J. & Daly, M.J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21, 263–265 (2005).