152 related articles for article (PubMed ID: 38195559)
1. Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.
Block I; Mateu-Regué À; Do TTN; Miceikaite I; Sdogati D; Larsen MJ; Hao Q; Nielsen HR; Boonen SE; Skytte AB; Jensen UB; Høffding LK; De Nicolo A; Viel A; Tudini E; Parsons MT; Hansen TVO; Rossing M; Kruse TA; Spurdle AB; Thomassen M
Breast Cancer Res; 2024 Jan; 26(1):6. PubMed ID: 38195559
[TBL] [Abstract][Full Text] [Related]
2. Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility.
Keupp K; Hampp S; Hübbel A; Maringa M; Kostezka S; Rhiem K; Waha A; Wappenschmidt B; Pujol R; Surrallés J; Schmutzler RK; Wiesmüller L; Hahnen E
Mol Genet Genomic Med; 2019 Sep; 7(9):e863. PubMed ID: 31347298
[TBL] [Abstract][Full Text] [Related]
3. BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
Spurdle AB; Whiley PJ; Thompson B; Feng B; Healey S; Brown MA; Pettigrew C; ; Van Asperen CJ; Ausems MG; Kattentidt-Mouravieva AA; van den Ouweland AM; ; Lindblom A; Pigg MH; Schmutzler RK; Engel C; Meindl A; ; Caputo S; Sinilnikova OM; Lidereau R; ; Couch FJ; Guidugli L; Hansen Tv; Thomassen M; Eccles DM; Tucker K; Benitez J; Domchek SM; Toland AE; Van Rensburg EJ; Wappenschmidt B; Borg Å; Vreeswijk MP; Goldgar DE;
J Med Genet; 2012 Aug; 49(8):525-32. PubMed ID: 22889855
[TBL] [Abstract][Full Text] [Related]
4. Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.
Freire BL; Homma TK; Funari MFA; Lerario AM; Leal AM; Velloso EDRP; Malaquias AC; Jorge AAL
Eur J Med Genet; 2018 Mar; 61(3):130-133. PubMed ID: 29133208
[TBL] [Abstract][Full Text] [Related]
5. A tandem duplication of BRCA1 exons 1-19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome.
Du C; Mark D; Wappenschmidt B; Böckmann B; Pabst B; Chan S; Cao H; Morlot S; Scholz C; Auber B; Rhiem K; Schmutzler R; Illig T; Schlegelberger B; Steinemann D
Breast Cancer Res Treat; 2018 Dec; 172(3):561-569. PubMed ID: 30191368
[TBL] [Abstract][Full Text] [Related]
6. Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer.
Ryu JS; Lee HY; Cho EH; Yoon KA; Kim MK; Joo J; Lee ES; Kang HS; Lee S; Lee DO; Lim MC; Kong SY
Cancer Sci; 2020 Oct; 111(10):3912-3925. PubMed ID: 32761968
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements.
Gaildrat P; Krieger S; Théry JC; Killian A; Rousselin A; Berthet P; Frébourg T; Hardouin A; Martins A; Tosi M
J Med Genet; 2010 Jun; 47(6):398-403. PubMed ID: 20522429
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.
Asur RS; Kimble DC; Lach FP; Jung M; Donovan FX; Kamat A; Noonan RJ; Thomas JW; Park M; Chines P; Vlachos A; Auerbach AD; Smogorzewska A; Chandrasekharappa SC
Mol Genet Genomic Med; 2018 Jan; 6(1):77-91. PubMed ID: 29193904
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia.
Virts EL; Jankowska A; Mackay C; Glaas MF; Wiek C; Kelich SL; Lottmann N; Kennedy FM; Marchal C; Lehnert E; Scharf RE; Dufour C; Lanciotti M; Farruggia P; Santoro A; Savasan S; Scheckenbach K; Schipper J; Wagenmann M; Lewis T; Leffak M; Farlow JL; Foroud TM; Honisch E; Niederacher D; Chakraborty SC; Vance GH; Pruss D; Timms KM; Lanchbury JS; Alpi AF; Hanenberg H
Hum Mol Genet; 2015 Sep; 24(18):5093-108. PubMed ID: 26085575
[TBL] [Abstract][Full Text] [Related]
13. Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance.
Langerud J; Jarhelle E; Van Ghelue M; Ariansen SL; Iversen N
Hum Genomics; 2018 Nov; 12(1):51. PubMed ID: 30458859
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. The c.5242C>A BRCA1 missense variant induces exon skipping by increasing splicing repressors binding.
Millevoi S; Bernat S; Telly D; Fouque F; Gladieff L; Favre G; Vagner S; Toulas C
Breast Cancer Res Treat; 2010 Apr; 120(2):391-9. PubMed ID: 19404736
[TBL] [Abstract][Full Text] [Related]
16. Ablation of the Brca1-Palb2 Interaction Phenocopies Fanconi Anemia in Mice.
Park D; Bergin SM; Jones D; Ru P; Koivisto CS; Jeon YJ; Sizemore GM; Kladney RD; Hadjis A; Shakya R; Ludwig T
Cancer Res; 2020 Oct; 80(19):4172-4184. PubMed ID: 32732220
[TBL] [Abstract][Full Text] [Related]
17. A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.
Fierheller CT; Guitton-Sert L; Alenezi WM; Revil T; Oros KK; Gao Y; Bedard K; Arcand SL; Serruya C; Behl S; Meunier L; Fleury H; Fewings E; Subramanian DN; Nadaf J; Bruce JP; Bell R; Provencher D; Foulkes WD; El Haffaf Z; Mes-Masson AM; Majewski J; Pugh TJ; Tischkowitz M; James PA; Campbell IG; Greenwood CMT; Ragoussis J; Masson JY; Tonin PN
Genome Med; 2021 Dec; 13(1):186. PubMed ID: 34861889
[TBL] [Abstract][Full Text] [Related]
18. A new alternative splice variant of BRCA1 containing an additional in-frame exon.
Fortin J; Moisan AM; Dumont M; Leblanc G; Labrie Y; Durocher F; Bessette P; Bridge P; Chiquette J; Laframboise R; Lépine J; Lespérance B; Pichette R; Plante M; Provencher L; Voyer P; Simard J
Biochim Biophys Acta; 2005 Oct; 1731(1):57-65. PubMed ID: 16185777
[TBL] [Abstract][Full Text] [Related]
19. A novel
Colombo M; Mondini P; Minenza E; Foglia C; Mosconi A; Molica C; Pistola L; Ludovini V; Radice P
Front Oncol; 2023; 13():1102184. PubMed ID: 37025588
[TBL] [Abstract][Full Text] [Related]
20. Functional characterization of BRCA1 gene variants by mini-gene splicing assay.
Steffensen AY; Dandanell M; Jønson L; Ejlertsen B; Gerdes AM; Nielsen FC; Hansen Tv
Eur J Hum Genet; 2014 Dec; 22(12):1362-8. PubMed ID: 24667779
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
