448 related articles for article (PubMed ID: 31131967)
21. Comparative analysis of BRCA1 and BRCA2 variants of uncertain significance in patients with breast cancer: a multifactorial probability-based model versus ACMG standards and guidelines for interpreting sequence variants.
Park KS; Cho EY; Nam SJ; Ki CS; Kim JW
Genet Med; 2016 Dec; 18(12):1250-1257. PubMed ID: 27124784
[TBL] [Abstract][Full Text] [Related]
22. Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
Cline MS; Babbi G; Bonache S; Cao Y; Casadio R; de la Cruz X; Díez O; Gutiérrez-Enríquez S; Katsonis P; Lai C; Lichtarge O; Martelli PL; Mishne G; Moles-Fernández A; Montalban G; Mooney SD; O'Conner R; Ootes L; Özkan S; Padilla N; Pagel KA; Pejaver V; Radivojac P; Riera C; Savojardo C; Shen Y; Sun Y; Topper S; Parsons MT; Spurdle AB; Goldgar DE;
Hum Mutat; 2019 Sep; 40(9):1546-1556. PubMed ID: 31294896
[TBL] [Abstract][Full Text] [Related]
23. Variant classification changes over time in BRCA1 and BRCA2.
Mighton C; Charames GS; Wang M; Zakoor KR; Wong A; Shickh S; Watkins N; Lebo MS; Bombard Y; Lerner-Ellis J
Genet Med; 2019 Oct; 21(10):2248-2254. PubMed ID: 30971832
[TBL] [Abstract][Full Text] [Related]
24. Challenges in periodic revision of genetic testing results: Comparison of the main classification guidelines and report of a retrospective analysis involving BRCA1/BRCA2 variants of uncertain significance.
Andreis TF; de Souza KIW; Vieira IA; Alemar B; Sinigaglia M; de Araújo Rocha YM; Artigalás O; Bittar C; Oliveira Netto CB; Ashton-Prolla P; Rosset C
Gene; 2023 Apr; 862():147281. PubMed ID: 36775216
[TBL] [Abstract][Full Text] [Related]
25. Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic
Alenezi WM; Fierheller CT; Revil T; Serruya C; Mes-Masson AM; Foulkes WD; Provencher D; El Haffaf Z; Ragoussis J; Tonin PN
Genes (Basel); 2022 Apr; 13(4):. PubMed ID: 35456503
[TBL] [Abstract][Full Text] [Related]
26. Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes.
Montalban G; Bonache S; Moles-Fernández A; Gadea N; Tenés A; Torres-Esquius S; Carrasco E; Balmaña J; Diez O; Gutiérrez-Enríquez S
Hum Mutat; 2019 Dec; 40(12):2296-2317. PubMed ID: 31343793
[TBL] [Abstract][Full Text] [Related]
27. Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma.
Johansson PA; Nathan V; Bourke LM; Palmer JM; Zhang T; Symmons J; Howlie M; Patch AM; Read J; Holland EA; Schmid H; Warrier S; Glasson W; Höiom V; Wadt K; Jönsson G; Olsson H; Ingvar C; Mann G; Brown KM; Hayward NK; Pritchard AL
Melanoma Res; 2019 Oct; 29(5):483-490. PubMed ID: 31464824
[TBL] [Abstract][Full Text] [Related]
28. Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
Momozawa Y; Sasai R; Usui Y; Shiraishi K; Iwasaki Y; Taniyama Y; Parsons MT; Mizukami K; Sekine Y; Hirata M; Kamatani Y; Endo M; Inai C; Takata S; Ito H; Kohno T; Matsuda K; Nakamura S; Sugano K; Yoshida T; Nakagawa H; Matsuo K; Murakami Y; Spurdle AB; Kubo M
JAMA Oncol; 2022 Jun; 8(6):871-878. PubMed ID: 35420638
[TBL] [Abstract][Full Text] [Related]
29. Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients.
Gao X; Nan X; Liu Y; Liu R; Zang W; Shan G; Gai F; Zhang J; Li L; Cheng G; Song L
Hum Mutat; 2020 Mar; 41(3):696-708. PubMed ID: 31825140
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. MARGINAL: An Automatic Classification of Variants in
Karalidou V; Kalfakakou D; Papathanasiou A; Fostira F; Matsopoulos GK
Biomolecules; 2022 Oct; 12(11):. PubMed ID: 36358902
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. 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]
35. 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]
36. Reclassifying BRCA1 c.4358-2A > G and BRCA2 c.475 + 5G > C variants from "Uncertain Significance" to "Pathogenic" based on minigene assays and clinical evidence.
Ning Y; Zhang Y; Tian T; Chen Y; Wang J; Lei K; Cui Z
J Cancer Res Clin Oncol; 2024 Feb; 150(2):62. PubMed ID: 38300310
[TBL] [Abstract][Full Text] [Related]
37. BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.
Waddell N; Ten Haaf A; Marsh A; Johnson J; Walker LC; ; Gongora M; Brown M; Grover P; Girolami M; Grimmond S; Chenevix-Trench G; Spurdle AB
PLoS Genet; 2008 May; 4(5):e1000080. PubMed ID: 18497862
[TBL] [Abstract][Full Text] [Related]
38. In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample.
Rodríguez-Balada M; Roig B; Martorell L; Melé M; Salvat M; Vilella E; Borràs J; Gumà J
Cancer Genet; 2016 Nov; 209(11):487-492. PubMed ID: 27886673
[TBL] [Abstract][Full Text] [Related]
39. Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients.
Lee DS; Yoon SY; Looi LM; Kang P; Kang IN; Sivanandan K; Ariffin H; Thong MK; Chin KF; Mohd Taib NA; Yip CH; Teo SH
Breast Cancer Res; 2012 Apr; 14(2):R66. PubMed ID: 22507745
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
