These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
187 related articles for article (PubMed ID: 37713444)
21. Bypass of premature stop codons and generation of functional BRCA2 by exon skipping. Stauffer S; Biswas K; Sharan SK J Hum Genet; 2020 Sep; 65(9):805-809. PubMed ID: 32393813 [TBL] [Abstract][Full Text] [Related]
22. Impact of proactive high-throughput functional assay data on BRCA1 variant interpretation in 3684 patients with breast or ovarian cancer. Kim HK; Lee EJ; Lee YJ; Kim J; Kim Y; Kim K; Lee SW; Chang S; Lee YJ; Lee JW; Lee W; Chun S; Son BH; Jung KH; Kim YM; Min WK; Ahn SH J Hum Genet; 2020 Mar; 65(3):209-220. PubMed ID: 31907386 [TBL] [Abstract][Full Text] [Related]
23. Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort. Jarhelle E; Riise Stensland HM; Mæhle L; Van Ghelue M Fam Cancer; 2017 Jan; 16(1):1-16. PubMed ID: 27495310 [TBL] [Abstract][Full Text] [Related]
24. Accurate classification of BRCA1 variants with saturation genome editing. Findlay GM; Daza RM; Martin B; Zhang MD; Leith AP; Gasperini M; Janizek JD; Huang X; Starita LM; Shendure J Nature; 2018 Oct; 562(7726):217-222. PubMed ID: 30209399 [TBL] [Abstract][Full Text] [Related]
25. Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using Tubeuf H; Caputo SM; Sullivan T; Rondeaux J; Krieger S; Caux-Moncoutier V; Hauchard J; Castelain G; Fiévet A; Meulemans L; Révillion F; Léoné M; Boutry-Kryza N; Delnatte C; Guillaud-Bataille M; Cleveland L; Reid S; Southon E; Soukarieh O; Drouet A; Di Giacomo D; Vezain M; Bonnet-Dorion F; Bourdon V; Larbre H; Muller D; Pujol P; Vaz F; Audebert-Bellanger S; Colas C; Venat-Bouvet L; Solano AR; Stoppa-Lyonnet D; Houdayer C; Frebourg T; Gaildrat P; Sharan SK; Martins A Cancer Res; 2020 Sep; 80(17):3593-3605. PubMed ID: 32641407 [No Abstract] [Full Text] [Related]
26. Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes. Théry JC; Krieger S; Gaildrat P; Révillion F; Buisine MP; Killian A; Duponchel C; Rousselin A; Vaur D; Peyrat JP; Berthet P; Frébourg T; Martins A; Hardouin A; Tosi M Eur J Hum Genet; 2011 Oct; 19(10):1052-8. PubMed ID: 21673748 [TBL] [Abstract][Full Text] [Related]
27. A Study on the Retrospective Reinterpretation of BRCA1 and BRCA2 Variants. Kim JJ; Kim DJ; Nam EJ; Song KE; Ham JY; Kim YK; Lee NY Clin Lab; 2024 Apr; 70(4):. PubMed ID: 38623660 [TBL] [Abstract][Full Text] [Related]
28. Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in Portuguese breast/ovarian cancer families. Santos C; Peixoto A; Rocha P; Pinto P; Bizarro S; Pinheiro M; Pinto C; Henrique R; Teixeira MR J Mol Diagn; 2014 May; 16(3):324-34. PubMed ID: 24607278 [TBL] [Abstract][Full Text] [Related]
29. Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches. Guidugli L; Shimelis H; Masica DL; Pankratz VS; Lipton GB; Singh N; Hu C; Monteiro ANA; Lindor NM; Goldgar DE; Karchin R; Iversen ES; Couch FJ Am J Hum Genet; 2018 Feb; 102(2):233-248. PubMed ID: 29394989 [TBL] [Abstract][Full Text] [Related]
30. Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay. Hu C; Susswein LR; Roberts ME; Yang H; Marshall ML; Hiraki S; Berkofsky-Fessler W; Gupta S; Shen W; Dunn CA; Huang H; Na J; Domchek SM; Yadav S; Monteiro ANA; Polley EC; Hart SN; Hruska KS; Couch FJ Clin Cancer Res; 2022 Sep; 28(17):3742-3751. PubMed ID: 35736817 [TBL] [Abstract][Full Text] [Related]
31. Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance. Richardson ME; Hu C; Lee KY; LaDuca H; Fulk K; Durda KM; Deckman AM; Goldgar DE; Monteiro ANA; Gnanaolivu R; Hart SN; Polley EC; Chao E; Pesaran T; Couch FJ Am J Hum Genet; 2021 Mar; 108(3):458-468. PubMed ID: 33609447 [TBL] [Abstract][Full Text] [Related]
32. Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations. Chang S; Biswas K; Martin BK; Stauffer S; Sharan SK J Clin Invest; 2009 Oct; 119(10):3160-71. PubMed ID: 19770520 [TBL] [Abstract][Full Text] [Related]
33. Identification of Recurrent Variants in Jiang Y; Tian T; Yu C; Zhou W; Yang J; Wang Y; Wen Y; Chen J; Dai J; Jin G; Ma H; Shen H; Hu Z Biomed Res Int; 2020; 2020():6739823. PubMed ID: 32879886 [No Abstract] [Full Text] [Related]
35. BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding. Burke LJ; Sevcik J; Gambino G; Tudini E; Mucaki EJ; Shirley BC; Whiley P; Parsons MT; De Leeneer K; Gutiérrez-Enríquez S; Santamariña M; Caputo SM; Santana Dos Santos E; Soukupova J; Janatova M; Zemankova P; Lhotova K; Stolarova L; Borecka M; Moles-Fernández A; Manoukian S; Bonanni B; ; Edwards SL; Blok MJ; van Overeem Hansen T; Rossing M; Diez O; Vega A; Claes KBM; Goldgar DE; Rouleau E; Radice P; Peterlongo P; Rogan PK; Caligo M; Spurdle AB; Brown MA Hum Mutat; 2018 Dec; 39(12):2025-2039. PubMed ID: 30204945 [TBL] [Abstract][Full Text] [Related]
36. Changes in classification of genetic variants in BRCA1 and BRCA2. Kast K; Wimberger P; Arnold N Arch Gynecol Obstet; 2018 Feb; 297(2):279-280. PubMed ID: 29302806 [TBL] [Abstract][Full Text] [Related]
37. Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays. Fraile-Bethencourt E; Valenzuela-Palomo A; Díez-Gómez B; Goina E; Acedo A; Buratti E; Velasco EA J Pathol; 2019 Aug; 248(4):409-420. PubMed ID: 30883759 [TBL] [Abstract][Full Text] [Related]
38. Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary. Whiley PJ; Guidugli L; Walker LC; Healey S; Thompson BA; Lakhani SR; Da Silva LM; ; Tavtigian SV; Goldgar DE; Brown MA; Couch FJ; Spurdle AB Hum Mutat; 2011 Jun; 32(6):678-87. PubMed ID: 21394826 [TBL] [Abstract][Full Text] [Related]
39. Reinterpretation of BRCA1 and BRCA2 variants of uncertain significance in patients with hereditary breast/ovarian cancer using the ACMG/AMP 2015 guidelines. So MK; Jeong TD; Lim W; Moon BI; Paik NS; Kim SC; Huh J Breast Cancer; 2019 Jul; 26(4):510-519. PubMed ID: 30725392 [TBL] [Abstract][Full Text] [Related]
40. Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study. Zayas-Villanueva OA; Campos-Acevedo LD; Lugo-Trampe JJ; Hernández-Barajas D; González-Guerrero JF; Noriega-Iriondo MF; Ramírez-Sánchez IA; Martínez-de-Villarreal LE BMC Cancer; 2019 Jul; 19(1):722. PubMed ID: 31331294 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]