189 related articles for article (PubMed ID: 34073420)
1. Identification of a Splice Variant (c.5074+3A>C) of
Hong J; Kim JH; Ahn SH; Gu H; Chang S; Lee W; Kim DY; Chun S; Min WK
Genes (Basel); 2021 May; 12(6):. PubMed ID: 34073420
[TBL] [Abstract][Full Text] [Related]
2. BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients.
Montalban G; Bonache S; Bach V; Gisbert-Beamud A; Tenés A; Moles-Fernández A; López-Fernández A; Carrasco E; Balmaña J; Diez O; Gutiérrez-Enríquez S
Cancer Genet; 2021 Nov; 258-259():10-17. PubMed ID: 34237702
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Identification and Characterization of New
Bouras A; Leone M; Bonadona V; Lebrun M; Calender A; Boutry-Kryza N
Genes (Basel); 2021 Oct; 12(11):. PubMed ID: 34828342
[TBL] [Abstract][Full Text] [Related]
5. Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.
Brandão RD; Mensaert K; López-Perolio I; Tserpelis D; Xenakis M; Lattimore V; Walker LC; Kvist A; Vega A; Gutiérrez-Enríquez S; Díez O; ; de la Hoya M; Spurdle AB; De Meyer T; Blok MJ
Int J Cancer; 2019 Jul; 145(2):401-414. PubMed ID: 30623411
[TBL] [Abstract][Full Text] [Related]
6. The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?
Høberg-Vetti H; Ognedal E; Buisson A; Vamre TBA; Ariansen S; Hoover JM; Eide GE; Houge G; Fiskerstrand T; Haukanes BI; Bjorvatn C; Knappskog PM
Eur J Hum Genet; 2020 Aug; 28(8):1078-1086. PubMed ID: 32203205
[TBL] [Abstract][Full Text] [Related]
7. A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA.
Esposito MV; Nunziato M; Starnone F; Telese A; Calabrese A; D'Aiuto G; Pucci P; D'Aiuto M; Baralle F; D'Argenio V; Salvatore F
Int J Mol Sci; 2016 Dec; 17(12):. PubMed ID: 28009814
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. The
Arason A; Agnarsson BA; Johannesdottir G; Johannsson OT; Hilmarsdottir B; Reynisdottir I; Barkardottir RB
Genes (Basel); 2019 Nov; 10(11):. PubMed ID: 31683985
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. [Comparison of hereditary breast and ovarian cancer syndrome and sporadic ovarian cancer in ovarian cancer BRCA mutations].
Duan RR; Sun LX; Zhao HW
Zhonghua Fu Chan Ke Za Zhi; 2021 Nov; 56(11):788-795. PubMed ID: 34823292
[No Abstract] [Full Text] [Related]
13. Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression.
Chen X; Truong TT; Weaver J; Bove BA; Cattie K; Armstrong BA; Daly MB; Godwin AK
Hum Mutat; 2006 May; 27(5):427-35. PubMed ID: 16619214
[TBL] [Abstract][Full Text] [Related]
14. Novel BRCA1 splice-site mutation in ovarian cancer patients of Slavic origin.
Krivokuca A; Dragos VS; Stamatovic L; Blatnik A; Boljevic I; Stegel V; Rakobradovic J; Skerl P; Jovandic S; Krajc M; Magic MB; Novakovic S
Fam Cancer; 2018 Apr; 17(2):179-185. PubMed ID: 28685474
[TBL] [Abstract][Full Text] [Related]
15. Characterization of a novel germline BRCA1 splice variant, c.5332+4delA.
Yang C; Jairam S; Amoroso KA; Robson ME; Walsh MF; Zhang L
Breast Cancer Res Treat; 2018 Apr; 168(2):543-550. PubMed ID: 29185120
[TBL] [Abstract][Full Text] [Related]
16. A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect.
Dawson LM; Smith KN; Werdyani S; Ndikumana R; Penney C; Wiede LL; Smith KL; Pater JA; MacMillan A; Green J; Drover S; Young TL; O'Rielly DD
Mol Genet Genomic Med; 2020 Feb; 8(2):e1070. PubMed ID: 31782267
[TBL] [Abstract][Full Text] [Related]
17. Mutation screening of TP53, CHEK2 and BRCA genes in patients at high risk for hereditary breast and ovarian cancer (HBOC) in Brazil.
Cipriano NM; de Brito AM; de Oliveira ES; de Faria FC; Lemos S; Rodrigues AN; de Oliveira Lopes D; Dos Santos LL
Breast Cancer; 2019 May; 26(3):397-405. PubMed ID: 30535581
[TBL] [Abstract][Full Text] [Related]
18. Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.
Pinto P; Paulo P; Santos C; Rocha P; Pinto C; Veiga I; Pinheiro M; Peixoto A; Teixeira MR
Breast Cancer Res Treat; 2016 Sep; 159(2):245-56. PubMed ID: 27553368
[TBL] [Abstract][Full Text] [Related]
19. BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report.
Mehemmai C; Cherbal F; Hamdi Y; Guedioura A; Benbrahim W; Bakour R; Abdelhak S
Pathol Oncol Res; 2020 Apr; 26(2):715-726. PubMed ID: 30715675
[TBL] [Abstract][Full Text] [Related]
20. Somatic mRNA Analysis of BRCA1 Splice Variants Provides a Direct Theranostic Impact on PARP Inhibitors.
Chevalier LM; Billaud A; Fronteau S; Dauvé J; Patsouris A; Verriele V; Morel A
Mol Diagn Ther; 2020 Apr; 24(2):233-243. PubMed ID: 32124385
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]