272 related articles for article (PubMed ID: 27886673)
21. Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs.
Vreeswijk MP; Kraan JN; van der Klift HM; Vink GR; Cornelisse CJ; Wijnen JT; Bakker E; van Asperen CJ; Devilee P
Hum Mutat; 2009 Jan; 30(1):107-14. PubMed ID: 18693280
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Analysis of BRCA1/2 variants of unknown significance in the prospective Korean Hereditary Breast Cancer study.
Kim JH; Park S; Park HS; Park JS; Lee ST; Kim SW; Lee JW; Lee MH; Park SK; Noh WC; Choi DH; Han W; Jung SH
Sci Rep; 2021 Apr; 11(1):8485. PubMed ID: 33875706
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.
Montalban G; Fraile-Bethencourt E; López-Perolio I; Pérez-Segura P; Infante M; Durán M; Alonso-Cerezo MC; López-Fernández A; Diez O; de la Hoya M; Velasco EA; Gutiérrez-Enríquez S
Hum Mutat; 2018 Sep; 39(9):1155-1160. PubMed ID: 29969168
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Screening of
Montalban G; Bonache S; Moles-Fernández A; Gisbert-Beamud A; Tenés A; Bach V; Carrasco E; López-Fernández A; Stjepanovic N; Balmaña J; Diez O; Gutiérrez-Enríquez S
J Med Genet; 2019 Feb; 56(2):63-74. PubMed ID: 30472649
[TBL] [Abstract][Full Text] [Related]
28. Identification of twenty-nine novel germline unclassified variants of BRCA1 and BRCA2 genes in 1400 Italian individuals.
Santonocito C; Scapaticci M; Guarino D; Bartolini A; Minucci A; Concolino P; Scambia G; Paris I; Capoluongo E
Breast; 2017 Dec; 36():74-78. PubMed ID: 29020660
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control study.
Lai KN; Ho WK; Kang IN; Kang PC; Phuah SY; Mariapun S; Yip CH; Mohd Taib NA; Teo SH
BMC Cancer; 2017 Feb; 17(1):149. PubMed ID: 28222693
[TBL] [Abstract][Full Text] [Related]
31. Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.
Fraile-Bethencourt E; Díez-Gómez B; Velásquez-Zapata V; Acedo A; Sanz DJ; Velasco EA
PLoS Genet; 2017 Mar; 13(3):e1006691. PubMed ID: 28339459
[TBL] [Abstract][Full Text] [Related]
32. Collective evidence supports neutrality of BRCA1 V1687I, a novel sequence variant in the conserved THV motif of the first BRCT repeat.
Cortesi L; De Nicolo A; Medici V; Marino M; Turchetti D; Pradella LM; Rossi G; Parisini E; Federico M
Breast Cancer Res Treat; 2012 Jul; 134(1):435-41. PubMed ID: 22527099
[TBL] [Abstract][Full Text] [Related]
33. Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.
Ernst C; Hahnen E; Engel C; Nothnagel M; Weber J; Schmutzler RK; Hauke J
BMC Med Genomics; 2018 Mar; 11(1):35. PubMed ID: 29580235
[TBL] [Abstract][Full Text] [Related]
34. A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.
Sanz DJ; Acedo A; Infante M; Durán M; Pérez-Cabornero L; Esteban-Cardeñosa E; Lastra E; Pagani F; Miner C; Velasco EA
Clin Cancer Res; 2010 Mar; 16(6):1957-67. PubMed ID: 20215541
[TBL] [Abstract][Full Text] [Related]
35. Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.
da Costa E Silva Carvalho S; Cury NM; Brotto DB; de Araujo LF; Rosa RCA; Texeira LA; Plaça JR; Marques AA; Peronni KC; Ruy PC; Molfetta GA; Moriguti JC; Carraro DM; Palmero EI; Ashton-Prolla P; de Faria Ferraz VE; Silva WA
BMC Med Genomics; 2020 Feb; 13(1):21. PubMed ID: 32039725
[TBL] [Abstract][Full Text] [Related]
36. Characterization of three alternative transcripts of the BRCA1 gene in patients with breast cancer and a family history of breast and/or ovarian cancer who tested negative for pathogenic mutations.
Gambino G; Tancredi M; Falaschi E; Aretini P; Caligo MA
Int J Mol Med; 2015 Apr; 35(4):950-6. PubMed ID: 25683334
[TBL] [Abstract][Full Text] [Related]
37. OLA1 gene sequencing in patients with BRCA1/2 mutation-negative suspected hereditary breast and ovarian cancer.
Takahashi M; Chiba N; Shimodaira H; Yoshino Y; Mori T; Sumii M; Nomizu T; Ishioka C
Breast Cancer; 2017 Mar; 24(2):336-340. PubMed ID: 27271530
[TBL] [Abstract][Full Text] [Related]
38. In silico analysis of BRCA1 and BRCA2 missense variants and the relevance in molecular genetic testing.
Poon KS
Sci Rep; 2021 May; 11(1):11114. PubMed ID: 34045478
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. 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]
[Previous] [Next] [New Search]