632 related articles for article (PubMed ID: 24323938)
1. Functional assays for analysis of variants of uncertain significance in BRCA2.
Guidugli L; Carreira A; Caputo SM; Ehlen A; Galli A; Monteiro AN; Neuhausen SL; Hansen TV; Couch FJ; Vreeswijk MP;
Hum Mutat; 2014 Feb; 35(2):151-64. PubMed ID: 24323938
[TBL] [Abstract][Full Text] [Related]
2. A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.
Guidugli L; Pankratz VS; Singh N; Thompson J; Erding CA; Engel C; Schmutzler R; Domchek S; Nathanson K; Radice P; Singer C; Tonin PN; Lindor NM; Goldgar DE; Couch FJ
Cancer Res; 2013 Jan; 73(1):265-75. PubMed ID: 23108138
[TBL] [Abstract][Full Text] [Related]
3. DNA repair-related functional assays for the classification of BRCA1 and BRCA2 variants: a critical review and needs assessment.
Toland AE; Andreassen PR
J Med Genet; 2017 Nov; 54(11):721-731. PubMed ID: 28866612
[TBL] [Abstract][Full Text] [Related]
4. BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.
Cherbal F; Salhi N; Bakour R; Adane S; Boualga K; Maillet P
Dis Markers; 2012; 32(6):343-53. PubMed ID: 22684231
[TBL] [Abstract][Full Text] [Related]
5. Reclassification of
Lee JS; Oh S; Park SK; Lee MH; Lee JW; Kim SW; Son BH; Noh DY; Lee JE; Park HL; Kim MJ; Cho SI; Lee YK; Park SS; Seong MW
J Med Genet; 2018 Dec; 55(12):794-802. PubMed ID: 30415210
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8.
Khan MA; Varma AK
J Biomol Struct Dyn; 2023 Nov; 41(19):9879-9889. PubMed ID: 36404616
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance.
Surowy HM; Sutter C; Mittnacht M; Klaes R; Schaefer D; Evers C; Burgemeister AL; Goehringer C; Dikow N; Heil J; Golatta M; Schott S; Schneeweiss A; Bugert P; Sohn C; Bartram CR; Burwinkel B
Breast Cancer Res Treat; 2014 Jun; 145(2):451-60. PubMed ID: 24728577
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Hart SN; Hoskin T; Shimelis H; Moore RM; Feng B; Thomas A; Lindor NM; Polley EC; Goldgar DE; Iversen E; Monteiro ANA; Suman VJ; Couch FJ
Genet Med; 2019 Jan; 21(1):71-80. PubMed ID: 29884841
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain.
Hu C; Huang H; Na J; Lumby C; Abozaid M; Holdren MA; Rao TJ; Karam R; Pesaran T; Weyandt JD; Csuy CM; Seelaus CA; Young CC; Fulk K; Heidari Z; Morais Lyra PC; Couch RE; Persons B; Polley EC; Gnanaolivu RD; Boddicker NJ; Monteiro ANA; Yadav S; Domchek SM; Richardson ME; Couch FJ
Am J Hum Genet; 2024 Mar; 111(3):584-593. PubMed ID: 38417439
[TBL] [Abstract][Full Text] [Related]
15. Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".
Dines JN; Shirts BH; Slavin TP; Walsh T; King MC; Fowler DM; Pritchard CC
Genet Med; 2020 May; 22(5):825-830. PubMed ID: 31911673
[TBL] [Abstract][Full Text] [Related]
16. Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.
Aljarf R; Shen M; Pires DEV; Ascher DB
Sci Rep; 2022 Jun; 12(1):10458. PubMed ID: 35729312
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Imprecise Medicine: BRCA2 Variants of Uncertain Significance (VUS), the Challenges and Benefits to Integrate a Functional Assay Workflow with Clinical Decision Rules.
Jimenez-Sainz J; Jensen RB
Genes (Basel); 2021 May; 12(5):. PubMed ID: 34065235
[TBL] [Abstract][Full Text] [Related]
19. A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history.
Gómez García EB; Oosterwijk JC; Timmermans M; van Asperen CJ; Hogervorst FB; Hoogerbrugge N; Oldenburg R; Verhoef S; Dommering CJ; Ausems MG; van Os TA; van der Hout AH; Ligtenberg M; van den Ouweland A; van der Luijt RB; Wijnen JT; Gille JJ; Lindsey PJ; Devilee P; Blok MJ; Vreeswijk MP
Breast Cancer Res; 2009; 11(1):R8. PubMed ID: 19200354
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
