Editing Wilms' tumor (section)

===Molecular biology and related conditions===
Mutations of the ''[[WT1]]'' gene which is located on the short arm of [[chromosome 11]] (11p13) are observed in approximately 20% of Wilms' tumors, the majority of them being [[Heredity|inherited]] from the [[germline]], while a minority are acquired [[Somatic (biology)|somatic mutations]].<ref>{{cite journal | vauthors = Call KM, Glaser T, Ito CY, Buckler AJ, Pelletier J, Haber DA, Rose EA, Kral A, Yeger H, Lewis WH | s2cid = 29092372 | title = Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus | journal = Cell | volume = 60 | issue = 3 | pages = 509–20 | date = February 1990 | pmid = 2154335 | doi = 10.1016/0092-8674(90)90601-A }}</ref><ref>{{cite journal | vauthors = Huff V | title = Wilms tumor genetics | journal = American Journal of Medical Genetics | volume = 79 | issue = 4 | pages = 260–7 | date = October 1998 | pmid = 9781905 | doi = 10.1002/(SICI)1096-8628(19981002)79:4<260::AID-AJMG6>3.0.CO;2-Q }}</ref> In addition at least half of the Wilms' tumors with mutations in WT1 also carry acquired somatic mutations in [[CTNNB1]], the gene encoding the proto-oncogene [[beta-catenin]].<ref>{{cite journal | vauthors = Maiti S, Alam R, Amos CI, Huff V | title = Frequent association of beta-catenin and WT1 mutations in Wilms tumors | journal = Cancer Research | volume = 60 | issue = 22 | pages = 6288–92 | date = November 2000 | pmid = 11103785 | url = http://cancerres.aacrjournals.org/cgi/pmidlookup?view=long&pmid=11103785 }}</ref> This latter gene is found on short arm of [[chromosome 3]] (3p22.1).

Most cases do not have mutations in any of these genes.<ref name="pmid18311776">{{cite journal | vauthors = Ruteshouser EC, Robinson SM, Huff V | title = Wilms tumor genetics: mutations in WT1, WTX, and CTNNB1 account for only about one-third of tumors | journal = Genes, Chromosomes & Cancer | volume = 47 | issue = 6 | pages = 461–70 | date = June 2008 | pmid = 18311776 | pmc = 4332772 | doi = 10.1002/gcc.20553 }}</ref>

{| class="wikitable"
! Syndrome Name
! Associated Genetic Variant
! Risk for Wilms tumor
! Description of Syndrome
|-
|[[WAGR syndrome]] (Wilms tumor, aniridia, genital anomalies, retardation)
|Gene deletion that includes both ''[[WT1]]'' and ''[[PAX6]]''
|45–60%
|Characterized by Wilms tumor, [[aniridia]] (absence of iris), [[hemihypertrophy]] (one side of body larger than the other), genitourinary abnormalities, ambiguous genitalia, intellectual disability.<ref name=Dome2015>{{cite journal | vauthors = Dome JS, Graf N, Geller JI, Fernandez CV, Mullen EA, Spreafico F, Van den Heuvel-Eibrink M, Pritchard-Jones K | title = Advances in Wilms Tumor Treatment and Biology: Progress Through International Collaboration | journal = Journal of Clinical Oncology | volume = 33 | issue = 27 | pages = 2999–3007 | date = September 2015 | pmid = 26304882 | pmc = 4567702 | doi = 10.1200/JCO.2015.62.1888 }}</ref>
|-
|[[Denys–Drash syndrome|Denys-Drash syndrome (DDS)]]
|''[[WT1]]'' (exon 8 and 9)
|74%
|Characterized by kidney diseases since birth leading to early-onset kidney failure, ambiguous genitalia (intersex disorders).<ref name=Dome2015/>
|-
|[[Beckwith–Wiedemann syndrome|Beckwith-Wiedemann Syndrome]]
|Abnormal regulation of chromosome 11p15.5
|7%
|Characterized by macrosmia (large birth size), [[macroglossia]] (large tongue), [[hemihypertrophy]] (one side of the body is larger), other tumors in body, [[omphalocele]] (open abdominal wall) and [[Organomegaly|visceromegaly]] (enlargement of organs inside abdomen).<ref name=Dome2015/>
|}

An association with [[H19 (gene)|H19]] has been reported.<ref name=Coorens2019>Coorens THH, Treger TD, Al-Saadi R, Moore L, Tran MGB, Mitchell TJ, Tugnait S, Thevanesan C, Young MD, Oliver TRW, Oostveen M, Collord G, Tarpey PS, Cagan A, Hooks Y, Brougham M, Reynolds BC, Barone G, Anderson J, Jorgensen M, Burke GAA, Visser J, Nicholson JC, Smeulders N, Mushtaq I, Stewart GD, Campbell PJ, Wedge DC, Martincorena I, Rampling D, Hook L, Warren AY, Coleman N, Chowdhury T, Sebire N, Drost J, Saeb-Parsy K, Stratton MR, Straathof K, Pritchard-Jones K, Behjati S (2019) Embryonal precursors of Wilms tumor. Science 366(6470):1247-1251</ref> H19 is a [[long noncoding RNA]] located on the short arm of [[chromosome 11]] (11p15.5).