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Items: 1 to 20 of 65

1.

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.

Bonache S, Esteban I, Moles-Fernández A, Tenés A, Duran-Lozano L, Montalban G, Bach V, Carrasco E, Gadea N, López-Fernández A, Torres-Esquius S, Mancuso F, Caratú G, Vivancos A, Tuset N, Balmaña J, Gutiérrez-Enríquez S, Diez O.

J Cancer Res Clin Oncol. 2018 Dec;144(12):2495-2513. doi: 10.1007/s00432-018-2763-9. Epub 2018 Oct 10.

PMID:
30306255
2.

Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients.

Masliah-Planchon J, Lévy D, Héron D, Giuliano F, Badens C, Fréneaux P, Galmiche L, Guinebretierre JM, Cellier C, Waterfall JJ, Aït-Raïs K, Pierron G, Glorion C, Desguerre I, Soler C, Deville A, Delattre O, Michon J, Bourdeaut F.

Eur J Hum Genet. 2018 Aug;26(8):1217-1221. doi: 10.1038/s41431-018-0147-x. Epub 2018 Apr 30.

PMID:
29706636
3.

Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer.

Paulo P, Maia S, Pinto C, Pinto P, Monteiro A, Peixoto A, Teixeira MR.

PLoS Genet. 2018 Apr 16;14(4):e1007355. doi: 10.1371/journal.pgen.1007355. eCollection 2018 Apr.

4.

Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation.

Salih A, Inoue S, Onwuzurike N.

BMJ Case Rep. 2018 Jan 23;2018. pii: bcr-2017-222384. doi: 10.1136/bcr-2017-222384.

PMID:
29367366
5.

Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells.

Mo D, Zhao Y, Balajee AS.

Cancer Lett. 2018 Jan 28;413:1-10. doi: 10.1016/j.canlet.2017.10.021. Epub 2017 Nov 7. Review.

PMID:
29080750
6.

Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer.

Tedaldi G, Tebaldi M, Zampiga V, Danesi R, Arcangeli V, Ravegnani M, Cangini I, Pirini F, Petracci E, Rocca A, Falcini F, Amadori D, Calistri D.

Oncotarget. 2017 Jul 18;8(29):47064-47075. doi: 10.18632/oncotarget.16791.

7.

Clinical Impact of Tumor DNA Repair Expression and T-cell Infiltration in Breast Cancers.

Green AR, Aleskandarany MA, Ali R, Hodgson EG, Atabani S, De Souza K, Rakha EA, Ellis IO, Madhusudan S.

Cancer Immunol Res. 2017 Apr;5(4):292-299. doi: 10.1158/2326-6066.CIR-16-0195. Epub 2017 Mar 2.

8.

Ribosomal Protein S3 Negatively Regulates Unwinding Activity of RecQ-like Helicase 4 through Their Physical Interaction.

Patil AV, Hsieh TS.

J Biol Chem. 2017 Mar 10;292(10):4313-4325. doi: 10.1074/jbc.M116.764324. Epub 2017 Feb 3.

9.

Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.

van Rij MC, Grijsen ML, Appelman-Dijkstra NM, Hansson KB, Ruivenkamp CA, Mulder K, van Doorn R, Oranje AP, Kant SG.

Eur J Pediatr. 2017 Feb;176(2):279-283. doi: 10.1007/s00431-016-2834-3. Epub 2016 Dec 30.

10.

Altered RECQL5 expression in urothelial bladder carcinoma increases cellular proliferation and makes RECQL5 helicase activity a novel target for chemotherapy.

Patterson K, Arya L, Bottomley S, Morgan S, Cox A, Catto J, Bryant HE.

Oncotarget. 2016 Nov 15;7(46):76140-76150. doi: 10.18632/oncotarget.12683.

11.

Human Helicase RECQL4 Drives Cisplatin Resistance in Gastric Cancer by Activating an AKT-YB1-MDR1 Signaling Pathway.

Mo D, Fang H, Niu K, Liu J, Wu M, Li S, Zhu T, Aleskandarany MA, Arora A, Lobo DN, Madhusudan S, Balajee AS, Chi Z, Zhao Y.

Cancer Res. 2016 May 15;76(10):3057-66. doi: 10.1158/0008-5472.CAN-15-2361. Epub 2016 Mar 24.

12.

Camptothecin targets WRN protein: mechanism and relevance in clinical breast cancer.

Shamanna RA, Lu H, Croteau DL, Arora A, Agarwal D, Ball G, Aleskandarany MA, Ellis IO, Pommier Y, Madhusudan S, Bohr VA.

Oncotarget. 2016 Mar 22;7(12):13269-84. doi: 10.18632/oncotarget.7906.

13.

[Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute].

Macháčková E, Hazova J, Sťahlová Hrabincová E, Vašíčková P, Navrátilová M, Svoboda M, Foretová L.

Klin Onkol. 2016;29 Suppl 1:S35-45. Czech.

PMID:
26691941
14.

RECQL4 helicase has oncogenic potential in sporadic breast cancers.

Arora A, Agarwal D, Abdel-Fatah TM, Lu H, Croteau DL, Moseley P, Aleskandarany MA, Green AR, Ball G, Rakha EA, Chan SY, Ellis IO, Wang LL, Zhao Y, Balajee AS, Bohr VA, Madhusudan S.

J Pathol. 2016 Mar;238(4):495-501. doi: 10.1002/path.4681. Epub 2016 Feb 2.

15.

Decreased RECQL5 correlated with disease progression of osteosarcoma.

Wu J, Zhi L, Dai X, Cai Q, Ma W.

Biochem Biophys Res Commun. 2015 Nov 27;467(4):617-22. doi: 10.1016/j.bbrc.2015.10.114. Epub 2015 Oct 22.

PMID:
26499077
16.

The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formation.

Ng AJ, Walia MK, Smeets MF, Mutsaers AJ, Sims NA, Purton LE, Walsh NC, Martin TJ, Walkley CR.

PLoS Genet. 2015 Apr 10;11(4):e1005160. doi: 10.1371/journal.pgen.1005160. eCollection 2015 Apr.

17.

The level of RECQL1 expression is a prognostic factor for epithelial ovarian cancer.

Matsushita Y, Yokoyama Y, Yoshida H, Osawa Y, Mizunuma M, Shigeto T, Futagami M, Imaizumi T, Mizunuma H.

J Ovarian Res. 2014 Nov 26;7:107. doi: 10.1186/s13048-014-0107-1.

18.

Genetic alterations of chromosome 8 genes in oral cancer.

Yong ZW, Zaini ZM, Kallarakkal TG, Karen-Ng LP, Rahman ZA, Ismail SM, Sharifah NA, Mustafa WM, Abraham MT, Tay KK, Zain RB.

Sci Rep. 2014 Aug 15;4:6073. doi: 10.1038/srep06073.

19.

RECQ DNA helicases and osteosarcoma.

Lu L, Jin W, Liu H, Wang LL.

Adv Exp Med Biol. 2014;804:129-45. doi: 10.1007/978-3-319-04843-7_7. Review.

PMID:
24924172
20.

Digital expression profiling identifies RUNX2, CDC5L, MDM2, RECQL4, and CDK4 as potential predictive biomarkers for neo-adjuvant chemotherapy response in paediatric osteosarcoma.

Martin JW, Chilton-MacNeill S, Koti M, van Wijnen AJ, Squire JA, Zielenska M.

PLoS One. 2014 May 16;9(5):e95843. doi: 10.1371/journal.pone.0095843. eCollection 2014.

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