Colorectal cancer [DS:H00020]
Solid tumor [DS:H02421]

Palles C, Martin L, Domingo E, Chegwidden L, McGuire J, Cuthill V, Heitzer E, Kerr R, Kerr D, Kearsey S, Clark SK, Tomlinson I, Latchford A

The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.

Fam Cancer 21:197-209 (2022)
DOI:10.1007/s10689-021-00256-y

Bellido F, Pineda M, Aiza G, Valdes-Mas R, Navarro M, Puente DA, Pons T, Gonzalez S, Iglesias S, Darder E, Pinol V, Soto JL, Valencia A, Blanco I, Urioste M, Brunet J, Lazaro C, Capella G, Puente XS, Valle L

POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.

Genet Med 18:325-32 (2016)
DOI:10.1038/gim.2015.75

Ito T, Nomizu T, Eguchi H, Kamae N, Dechamethakun S, Akama Y, Endo G, Sugano K, Yoshida T, Okazaki Y, Ishida H

The first case report of polymerase proofreading-associated polyposis in POLD1 variant, c.1433G>A p.S478N, in Japan.

Jpn J Clin Oncol 50:1080-1083 (2020)
DOI:10.1093/jjco/hyaa090

Hamzaoui N, Alarcon F, Leulliot N, Guimbaud R, Buecher B, Colas C, Corsini C, Nuel G, Terris B, Laurent-Puig P, Chaussade S, Dhooge M, Madru C, Clauser E

Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.

Genet Med 22:1533-1541 (2020)
DOI:10.1038/s41436-020-0828-z

Immunodeficiency associated with DNA repair defects [DS:H00094]
Disorders of adaptive immunity [DS:H02526]
Primary immunodeficiency disease [DS:H01725]
IMAGE syndrome [DS:H02319]

Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaite Z, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J, Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

Am J Hum Genet 103:1038-1044 (2018)
DOI:10.1016/j.ajhg.2018.10.024

Tan TY, Jameson JL, Campbell PE, Ekert PG, Zacharin M, Savarirayan R

Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review.

Am J Med Genet A 140:1778-84 (2006)
DOI:10.1002/ajmg.a.31365

Immunodeficiency associated with DNA repair defects [DS:H00094]
Disorders of adaptive immunity [DS:H02526]
Primary immunodeficiency disease [DS:H01725]

Pachlopnik Schmid J, Lemoine R, Nehme N, Cormier-Daire V, Revy P, Debeurme F, Debre M, Nitschke P, Bole-Feysot C, Legeai-Mallet L, Lim A, de Villartay JP, Picard C, Durandy A, Fischer A, de Saint Basile G

Polymerase epsilon1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome").

J Exp Med 209:2323-30 (2012)
DOI:10.1084/jem.20121303

Thiffault I, Saunders C, Jenkins J, Raje N, Canty K, Sharma M, Grote L, Welsh HI, Farrow E, Twist G, Miller N, Zwick D, Zellmer L, Kingsmore SF, Safina NP

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.

BMC Med Genet 16:31 (2015)
DOI:10.1186/s12881-015-0177-y