138 related articles for article (PubMed ID: 34906453)
21. Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.
Jia X; Burugula BB; Chen V; Lemons RM; Jayakody S; Maksutova M; Kitzman JO
Am J Hum Genet; 2021 Jan; 108(1):163-175. PubMed ID: 33357406
[TBL] [Abstract][Full Text] [Related]
22. Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.
Lyra PCM; Nepomuceno TC; de Souza MLM; Machado GF; Veloso MF; Henriques TB; Dos Santos DZ; Ribeiro IG; Ribeiro RS; Rangel LBA; Richardson M; Iversen ES; Goldgar D; Couch FJ; Carvalho MA; Monteiro ANA
Genet Med; 2021 Feb; 23(2):306-315. PubMed ID: 33087888
[TBL] [Abstract][Full Text] [Related]
23. Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance.
Langerud J; Jarhelle E; Van Ghelue M; Ariansen SL; Iversen N
Hum Genomics; 2018 Nov; 12(1):51. PubMed ID: 30458859
[TBL] [Abstract][Full Text] [Related]
24. BRCA1/2 missense mutations and the value of in-silico analyses.
Sadowski CE; Kohlstedt D; Meisel C; Keller K; Becker K; Mackenroth L; Rump A; Schröck E; Wimberger P; Kast K
Eur J Med Genet; 2017 Nov; 60(11):572-577. PubMed ID: 28807866
[TBL] [Abstract][Full Text] [Related]
25. Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.
Tricarico R; Kasela M; Mareni C; Thompson BA; Drouet A; Staderini L; Gorelli G; Crucianelli F; Ingrosso V; Kantelinen J; Papi L; De Angioletti M; Berardi M; Gaildrat P; Soukarieh O; Turchetti D; Martins A; Spurdle AB; Nyström M; Genuardi M;
Hum Mutat; 2017 Jan; 38(1):64-77. PubMed ID: 27629256
[TBL] [Abstract][Full Text] [Related]
26. MSH2 role in BRCA1-driven tumorigenesis: A preliminary study in yeast and in human tumors from BRCA1-VUS carriers.
Maresca L; Spugnesi L; Lodovichi S; Cozzani C; Naccarato AG; Tancredi M; Collavoli A; Falaschi E; Rossetti E; Aretini P; Cervelli T; Galli A; Caligo MA
Eur J Med Genet; 2015 Oct; 58(10):531-9. PubMed ID: 26381082
[TBL] [Abstract][Full Text] [Related]
27. A germline missense mutation in exon 3 of the MSH2 gene in a Lynch syndrome family: correlation with phenotype and localization assay.
Bianchi F; Maccaroni E; Belvederesi L; Brugiati C; Giampieri R; Bini F; Bracci R; Pagliaretta S; Del Prete M; Piva F; Mandolesi A; Scarpelli M; Berardi R
Fam Cancer; 2018 Apr; 17(2):215-224. PubMed ID: 28785832
[TBL] [Abstract][Full Text] [Related]
28. Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar.
Baudhuin LM; Kluge ML; Kotzer KE; Lagerstedt SA
Eur J Hum Genet; 2019 Oct; 27(10):1550-1560. PubMed ID: 31227806
[TBL] [Abstract][Full Text] [Related]
29. Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.
Carvalho MA; Marsillac SM; Karchin R; Manoukian S; Grist S; Swaby RF; Urmenyi TP; Rondinelli E; Silva R; Gayol L; Baumbach L; Sutphen R; Pickard-Brzosowicz JL; Nathanson KL; Sali A; Goldgar D; Couch FJ; Radice P; Monteiro AN
Cancer Res; 2007 Feb; 67(4):1494-501. PubMed ID: 17308087
[TBL] [Abstract][Full Text] [Related]
30. Sources of discordance among germ-line variant classifications in ClinVar.
Yang S; Lincoln SE; Kobayashi Y; Nykamp K; Nussbaum RL; Topper S
Genet Med; 2017 Oct; 19(10):1118-1126. PubMed ID: 28569743
[TBL] [Abstract][Full Text] [Related]
31. Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.
Ollila S; Sarantaus L; Kariola R; Chan P; Hampel H; Holinski-Feder E; Macrae F; Kohonen-Corish M; Gerdes AM; Peltomäki P; Mangold E; de la Chapelle A; Greenblatt M; Nyström M
Gastroenterology; 2006 Nov; 131(5):1408-17. PubMed ID: 17101317
[TBL] [Abstract][Full Text] [Related]
32. Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.
Walker LC; Whiley PJ; Couch FJ; Farrugia DJ; Healey S; Eccles DM; Lin F; Butler SA; Goff SA; Thompson BA; Lakhani SR; Da Silva LM; ; Tavtigian SV; Goldgar DE; Brown MA; Spurdle AB
Hum Mutat; 2010 Jun; 31(6):E1484-505. PubMed ID: 20513136
[TBL] [Abstract][Full Text] [Related]
33. Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.
Hirotsu Y; Schmidt-Edelkraut U; Nakagomi H; Sakamoto I; Hartenfeller M; Narang R; Soldatos TG; Kaduthanam S; Wang X; Hettich S; Brock S; Jackson DB; Omata M
Int J Mol Sci; 2020 May; 21(11):. PubMed ID: 32486089
[No Abstract] [Full Text] [Related]
34. Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Harrison SM; Dolinksy JS; Chen W; Collins CD; Das S; Deignan JL; Garber KB; Garcia J; Jarinova O; Knight Johnson AE; Koskenvuo JW; Lee H; Mao R; Mar-Heyming R; McFaddin AS; Moyer K; Nagan N; Rentas S; Santani AB; Seppälä EH; Shirts BH; Tidwell T; Topper S; Vincent LM; Vinette K; Rehm HL;
Hum Mutat; 2018 Nov; 39(11):1641-1649. PubMed ID: 30311378
[TBL] [Abstract][Full Text] [Related]
35. Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair.
Wielders EA; Hettinger J; Dekker R; Kets CM; Ligtenberg MJ; Mensenkamp AR; van den Ouweland AM; Prins J; Wagner A; Dinjens WN; Dubbink HJ; van Hest LP; Menko F; Hogervorst F; Verhoef S; te Riele H
J Med Genet; 2014 Apr; 51(4):245-53. PubMed ID: 24501230
[TBL] [Abstract][Full Text] [Related]
36. The Frequency of Discordant Variant Classification in the Human Gene Mutation Database: A Comparison of the American College of Medical Genetics and Genomics Guidelines and ClinVar.
Park KJ; Lee W; Chun S; Min WK
Lab Med; 2021 May; 52(3):250-259. PubMed ID: 32926152
[TBL] [Abstract][Full Text] [Related]
37. Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
Chao EC; Velasquez JL; Witherspoon MS; Rozek LS; Peel D; Ng P; Gruber SB; Watson P; Rennert G; Anton-Culver H; Lynch H; Lipkin SM
Hum Mutat; 2008 Jun; 29(6):852-60. PubMed ID: 18383312
[TBL] [Abstract][Full Text] [Related]
38. Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.
Lee MS; Green R; Marsillac SM; Coquelle N; Williams RS; Yeung T; Foo D; Hau DD; Hui B; Monteiro AN; Glover JN
Cancer Res; 2010 Jun; 70(12):4880-90. PubMed ID: 20516115
[TBL] [Abstract][Full Text] [Related]
39. Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
Thomassen M; Blanco A; Montagna M; Hansen TV; Pedersen IS; Gutiérrez-Enríquez S; Menéndez M; Fachal L; Santamariña M; Steffensen AY; Jønson L; Agata S; Whiley P; Tognazzo S; Tornero E; Jensen UB; Balmaña J; Kruse TA; Goldgar DE; Lázaro C; Diez O; Spurdle AB; Vega A
Breast Cancer Res Treat; 2012 Apr; 132(3):1009-23. PubMed ID: 21769658
[TBL] [Abstract][Full Text] [Related]
40. Multiplexed assays reveal effects of missense variants in MSH2 and cancer predisposition.
Nielsen SV; Hartmann-Petersen R; Stein A; Lindorff-Larsen K
PLoS Genet; 2021 Apr; 17(4):e1009496. PubMed ID: 33886538
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
