195 related articles for article (PubMed ID: 37336879)
21. Base excision repair deficiency signatures implicate germline and somatic
Thibodeau ML; Zhao EY; Reisle C; Ch'ng C; Wong HL; Shen Y; Jones MR; Lim HJ; Young S; Cremin C; Pleasance E; Zhang W; Holt R; Eirew P; Karasinska J; Kalloger SE; Taylor G; Majounie E; Bonakdar M; Zong Z; Bleile D; Chiu R; Birol I; Gelmon K; Lohrisch C; Mungall KL; Mungall AJ; Moore R; Ma YP; Fok A; Yip S; Karsan A; Huntsman D; Schaeffer DF; Laskin J; Marra MA; Renouf DJ; Jones SJM; Schrader KA
Cold Spring Harb Mol Case Stud; 2019 Apr; 5(2):. PubMed ID: 30833417
[TBL] [Abstract][Full Text] [Related]
22. Simplifying the detection of MUTYH mutations by high resolution melting analysis.
López-Villar I; Ayala R; Wesselink J; Morillas JD; López E; Marín JC; Díaz-Tasende J; González S; Robles L; Martínez-López J
BMC Cancer; 2010 Aug; 10():408. PubMed ID: 20687945
[TBL] [Abstract][Full Text] [Related]
23. Mutational signature analysis identifies MUTYH deficiency in colorectal cancers and adrenocortical carcinomas.
Pilati C; Shinde J; Alexandrov LB; Assié G; André T; Hélias-Rodzewicz Z; Ducoudray R; Le Corre D; Zucman-Rossi J; Emile JF; Bertherat J; Letouzé E; Laurent-Puig P
J Pathol; 2017 May; 242(1):10-15. PubMed ID: 28127763
[TBL] [Abstract][Full Text] [Related]
24. No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.
Steinke V; Rahner N; Morak M; Keller G; Schackert HK; Görgens H; Schmiegel W; Royer-Pokora B; Dietmaier W; Kloor M; Engel C; Propping P; Aretz S;
Eur J Hum Genet; 2008 May; 16(5):587-92. PubMed ID: 18301448
[TBL] [Abstract][Full Text] [Related]
25. Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity.
Goldmann JM; Hampstead JE; Wong WSW; Wilfert AB; Turner TN; Jonker MA; Bernier R; Huynen MA; Eichler EE; Veltman JA; Maxwell GL; Gilissen C
Genome Res; 2021 Sep; 31(9):1513-1518. PubMed ID: 34301630
[TBL] [Abstract][Full Text] [Related]
26. Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry.
Yurgelun MB; Masciari S; Joshi VA; Mercado RC; Lindor NM; Gallinger S; Hopper JL; Jenkins MA; Buchanan DD; Newcomb PA; Potter JD; Haile RW; Kucherlapati R; Syngal S;
JAMA Oncol; 2015 May; 1(2):214-21. PubMed ID: 26086041
[TBL] [Abstract][Full Text] [Related]
27. Variation in genome-wide mutation rates within and between human families.
Conrad DF; Keebler JE; DePristo MA; Lindsay SJ; Zhang Y; Casals F; Idaghdour Y; Hartl CL; Torroja C; Garimella KV; Zilversmit M; Cartwright R; Rouleau GA; Daly M; Stone EA; Hurles ME; Awadalla P;
Nat Genet; 2011 Jun; 43(7):712-4. PubMed ID: 21666693
[TBL] [Abstract][Full Text] [Related]
28. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
Palles C; Cazier JB; Howarth KM; Domingo E; Jones AM; Broderick P; Kemp Z; Spain SL; Guarino E; Salguero I; Sherborne A; Chubb D; Carvajal-Carmona LG; Ma Y; Kaur K; Dobbins S; Barclay E; Gorman M; Martin L; Kovac MB; Humphray S; ; ; Lucassen A; Holmes CC; Bentley D; Donnelly P; Taylor J; Petridis C; Roylance R; Sawyer EJ; Kerr DJ; Clark S; Grimes J; Kearsey SE; Thomas HJ; McVean G; Houlston RS; Tomlinson I
Nat Genet; 2013 Feb; 45(2):136-44. PubMed ID: 23263490
[TBL] [Abstract][Full Text] [Related]
29. Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.
Sehested A; Meade J; Scheie D; Østrup O; Bertelsen B; Misiakou MA; Sarosiek T; Kessler E; Melchior LC; Munch-Petersen HF; Pai RK; Schmuth M; Gottschling H; Zschocke J; Gallon R; Wimmer K
Hum Mutat; 2022 Jan; 43(1):85-96. PubMed ID: 34816535
[TBL] [Abstract][Full Text] [Related]
30. Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer.
Barnetson RA; Devlin L; Miller J; Farrington SM; Slater S; Drake AC; Campbell H; Dunlop MG; Porteous ME
Clin Genet; 2007 Dec; 72(6):551-5. PubMed ID: 17956577
[TBL] [Abstract][Full Text] [Related]
31. MUTYH-associated colorectal cancer and adenomatous polyposis.
Yamaguchi S; Ogata H; Katsumata D; Nakajima M; Fujii T; Tsutsumi S; Asao T; Sasaki K; Kuwano H; Kato H
Surg Today; 2014 Apr; 44(4):593-600. PubMed ID: 23605219
[TBL] [Abstract][Full Text] [Related]
32. New observations on maternal age effect on germline de novo mutations.
Wong WS; Solomon BD; Bodian DL; Kothiyal P; Eley G; Huddleston KC; Baker R; Thach DC; Iyer RK; Vockley JG; Niederhuber JE
Nat Commun; 2016 Jan; 7():10486. PubMed ID: 26781218
[TBL] [Abstract][Full Text] [Related]
33. Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review.
Knopperts AP; Nielsen M; Niessen RC; Tops CM; Jorritsma B; Varkevisser J; Wijnen J; Siezen CL; Heine-Bröring RC; van Kranen HJ; Vos YJ; Westers H; Kampman E; Sijmons RH; Hes FJ
Fam Cancer; 2013 Mar; 12(1):43-50. PubMed ID: 23007840
[TBL] [Abstract][Full Text] [Related]
34. A search for germline APC mutations in early onset colorectal cancer or familial colorectal cancer with normal DNA mismatch repair.
Boardman LA; Schmidt S; Lindor NM; Burgart LJ; Cunningham JM; Price-Troska T; Snow K; Ahlquist DA; Thibodeau SN
Genes Chromosomes Cancer; 2001 Feb; 30(2):181-6. PubMed ID: 11135435
[TBL] [Abstract][Full Text] [Related]
35. A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.
Wimmer K; Beilken A; Nustede R; Ripperger T; Lamottke B; Ure B; Steinmann D; Reineke-Plaass T; Lehmann U; Zschocke J; Valle L; Fauth C; Kratz CP
Fam Cancer; 2017 Jan; 16(1):67-71. PubMed ID: 27573199
[TBL] [Abstract][Full Text] [Related]
36. Association of assisted reproductive technology, germline de novo mutations and congenital heart defects in a prospective birth cohort study.
Wang C; Lv H; Ling X; Li H; Diao F; Dai J; Du J; Chen T; Xi Q; Zhao Y; Zhou K; Xu B; Han X; Liu X; Peng M; Chen C; Tao S; Huang L; Liu C; Wen M; Jiang Y; Jiang T; Lu C; Wu W; Wu D; Chen M; Lin Y; Guo X; Huo R; Liu J; Ma H; Jin G; Xia Y; Sha J; Shen H; Hu Z
Cell Res; 2021 Aug; 31(8):919-928. PubMed ID: 34108666
[TBL] [Abstract][Full Text] [Related]
37. Inherited DNA-Repair Defects in Colorectal Cancer.
AlDubayan SH; Giannakis M; Moore ND; Han GC; Reardon B; Hamada T; Mu XJ; Nishihara R; Qian Z; Liu L; Yurgelun MB; Syngal S; Garraway LA; Ogino S; Fuchs CS; Van Allen EM
Am J Hum Genet; 2018 Mar; 102(3):401-414. PubMed ID: 29478780
[TBL] [Abstract][Full Text] [Related]
38. Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort.
Liu L; Liu F; Wang Q; Xie H; Li Z; Lu Q; Wang Y; Zhang M; Zhang Y; Picker J; Cui X; Zou L; Chen X
Mol Genet Genomic Med; 2021 Jun; 9(6):e1689. PubMed ID: 33951346
[TBL] [Abstract][Full Text] [Related]
39. POLD1 and POLE Gene Mutations in Jewish Cohorts of Early-Onset Colorectal Cancer and of Multiple Colorectal Adenomas.
Rosner G; Gluck N; Carmi S; Bercovich D; Fliss-Issakov N; Ben-Yehoyada M; Aharon-Caspi S; Kellerman E; Strul H; Shibolet O; Kariv R
Dis Colon Rectum; 2018 Sep; 61(9):1073-1079. PubMed ID: 30086056
[TBL] [Abstract][Full Text] [Related]
40. NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?
Weren RD; Ligtenberg MJ; Geurts van Kessel A; De Voer RM; Hoogerbrugge N; Kuiper RP
J Pathol; 2018 Feb; 244(2):135-142. PubMed ID: 29105096
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]