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Items: 1 to 20 of 102

1.

A mutational comparison of adult and adolescent and young adult (AYA) colon cancer.

Tricoli JV, Boardman LA, Patidar R, Sindiri S, Jang JS, Walsh WD, McGregor PM 3rd, Camalier CE, Mehaffey MG, Furman WL, Bahrami A, Williams PM, Lih CJ, Conley BA, Khan J.

Cancer. 2018 Mar 1;124(5):1070-1082. doi: 10.1002/cncr.31136. Epub 2017 Nov 30.

2.

Whole genome sequencing of melanomas in adolescent and young adults reveals distinct mutation landscapes and the potential role of germline variants in disease susceptibility.

Wilmott JS, Johansson PA, Newell F, Waddell N, Ferguson P, Quek C, Patch AM, Nones K, Shang P, Pritchard AL, Kazakoff S, Holmes O, Leonard C, Wood S, Xu Q, Saw RPM, Spillane AJ, Stretch JR, Shannon KF, Kefford RF, Menzies AM, Long GV, Thompson JF, Pearson JV, Mann GJ, Hayward NK, Scolyer RA.

Int J Cancer. 2019 Mar 1;144(5):1049-1060. doi: 10.1002/ijc.31791. Epub 2018 Nov 21.

PMID:
30178487
3.

Whole-exome sequencing identified mutational profiles of high-grade colon adenomas.

Lee SH, Jung SH, Kim TM, Rhee JK, Park HC, Kim MS, Kim SS, An CH, Lee SH, Chung YJ.

Oncotarget. 2017 Jan 24;8(4):6579-6588. doi: 10.18632/oncotarget.14172.

4.

Clinical application of genomic profiling to find druggable targets for adolescent and young adult (AYA) cancer patients with metastasis.

Cha S, Lee J, Shin JY, Kim JY, Sim SH, Keam B, Kim TM, Kim DW, Heo DS, Lee SH, Kim JI.

BMC Cancer. 2016 Feb 29;16:170. doi: 10.1186/s12885-016-2209-1.

5.

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

Waszak SM, Northcott PA, Buchhalter I, Robinson GW, Sutter C, Groebner S, Grund KB, Brugières L, Jones DTW, Pajtler KW, Morrissy AS, Kool M, Sturm D, Chavez L, Ernst A, Brabetz S, Hain M, Zichner T, Segura-Wang M, Weischenfeldt J, Rausch T, Mardin BR, Zhou X, Baciu C, Lawerenz C, Chan JA, Varlet P, Guerrini-Rousseau L, Fults DW, Grajkowska W, Hauser P, Jabado N, Ra YS, Zitterbart K, Shringarpure SS, De La Vega FM, Bustamante CD, Ng HK, Perry A, MacDonald TJ, Hernáiz Driever P, Bendel AE, Bowers DC, McCowage G, Chintagumpala MM, Cohn R, Hassall T, Fleischhack G, Eggen T, Wesenberg F, Feychting M, Lannering B, Schüz J, Johansen C, Andersen TV, Röösli M, Kuehni CE, Grotzer M, Kjaerheim K, Monoranu CM, Archer TC, Duke E, Pomeroy SL, Shelagh R, Frank S, Sumerauer D, Scheurlen W, Ryzhova MV, Milde T, Kratz CP, Samuel D, Zhang J, Solomon DA, Marra M, Eils R, Bartram CR, von Hoff K, Rutkowski S, Ramaswamy V, Gilbertson RJ, Korshunov A, Taylor MD, Lichter P, Malkin D, Gajjar A, Korbel JO, Pfister SM.

Lancet Oncol. 2018 Jun;19(6):785-798. doi: 10.1016/S1470-2045(18)30242-0. Epub 2018 May 9.

6.

Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.

Zhu N, Gonzaga-Jauregui C, Welch CL, Ma L, Qi H, King AK, Krishnan U, Rosenzweig EB, Ivy DD, Austin ED, Hamid R, Nichols WC, Pauciulo MW, Lutz KA, Sawle A, Reid JG, Overton JD, Baras A, Dewey F, Shen Y, Chung WK.

Circ Genom Precis Med. 2018 Apr;11(4):e001887. doi: 10.1161/CIRCGEN.117.001887.

7.

Whole-exome sequencing of oral mucosal melanoma reveals mutational profile and therapeutic targets.

Lyu J, Song Z, Chen J, Shepard MJ, Song H, Ren G, Li Z, Guo W, Zhuang Z, Shi Y.

J Pathol. 2018 Mar;244(3):358-366. doi: 10.1002/path.5017. Epub 2018 Feb 5.

PMID:
29230811
8.

Gene aberration profile of tumors of adolescent and young adult females.

Kanke Y, Shimomura A, Saito M, Honda T, Shiraishi K, Shimada Y, Watanabe R, Yoshida H, Yoshida M, Shimizu C, Takahashi K, Totsuka H, Ogiwara H, Hirose S, Kono K, Tamura K, Okamoto A, Kinoshita T, Kato T, Kohno T.

Oncotarget. 2017 Dec 29;9(5):6228-6237. doi: 10.18632/oncotarget.23765. eCollection 2018 Jan 19.

9.

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.

May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortium.

Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17.

10.

Unique characteristics of adolescent and young adult acute lymphoblastic leukemia, breast cancer, and colon cancer.

Tricoli JV, Seibel NL, Blair DG, Albritton K, Hayes-Lattin B.

J Natl Cancer Inst. 2011 Apr 20;103(8):628-35. doi: 10.1093/jnci/djr094. Epub 2011 Mar 24.

11.

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Yehia L, Ni Y, Sesock K, Niazi F, Fletcher B, Chen HJL, LaFramboise T, Eng C.

PLoS Genet. 2018 Apr 23;14(4):e1007352. doi: 10.1371/journal.pgen.1007352. eCollection 2018 Apr.

12.

Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Ashktorab H, Mokarram P, Azimi H, Olumi H, Varma S, Nickerson ML, Brim H.

Oncotarget. 2017 Jan 31;8(5):7852-7866. doi: 10.18632/oncotarget.13977.

13.

Founder Mutations for Early Onset Melanoma as Revealed by Whole Exome Sequencing Suggests That This is Not Associated with the Increasing Incidence of Melanoma in Poland.

Dębniak T, Scott RJ, Lea RA, Górski B, Masojć B, Cybulski C, Kram A, Maleszka R, Gromowski T, Paszkowska-Szczur K, Kashyap A, Lener MR, Malińska K, Rogoża E, Murawa D, Rudnicka H, Deptuła J, Lubiński J.

Cancer Res Treat. 2019 Jan;51(1):337-344. doi: 10.4143/crt.2018.157. Epub 2018 May 14.

14.

Comprehensive genomic analyses of a metastatic colon cancer to the lung by whole exome sequencing and gene expression analysis.

Fang LT, Lee S, Choi H, Kim HK, Jew G, Kang HC, Chen L, Jablons D, Kim IJ.

Int J Oncol. 2014 Jan;44(1):211-21. doi: 10.3892/ijo.2013.2150. Epub 2013 Oct 25.

PMID:
24172857
15.

BRCA1/2 mutations are not a common cause of malignant melanoma in the Polish population.

Dębniak T, Scott RJ, Górski B, Masojć B, Kram A, Maleszka R, Cybulski C, Paszkowska-Szczur K, Kashyap A, Murawa D, Malińska K, Kiedrowicz M, Rogoża-Janiszewska E, Rudnicka H, Deptuła J, Domagała P, Kluźniak W, Lener MR, Lubiński J.

PLoS One. 2018 Oct 4;13(10):e0204768. doi: 10.1371/journal.pone.0204768. eCollection 2018.

16.

Telomere length alterations in microsatellite stable colorectal cancer and association with the immune response.

Lopez-Doriga A, Valle L, Alonso MH, Aussó S, Closa A, Sanjuan X, Barquero D, Rodríguez-Moranta F, Sanz-Pamplona R, Moreno V.

Biochim Biophys Acta Mol Basis Dis. 2018 Sep;1864(9 Pt B):2992-3000. doi: 10.1016/j.bbadis.2018.06.010. Epub 2018 Jun 14.

17.

Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria.

Hoyer J, Vasileiou G, Uebe S, Wunderle M, Kraus C, Fasching PA, Thiel CT, Hartmann A, Beckmann MW, Lux MP, Reis A.

BMC Cancer. 2018 Sep 26;18(1):926. doi: 10.1186/s12885-018-4821-8.

18.

Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study.

Fewings E, Larionov A, Redman J, Goldgraben MA, Scarth J, Richardson S, Brewer C, Davidson R, Ellis I, Evans DG, Halliday D, Izatt L, Marks P, McConnell V, Verbist L, Mayes R, Clark GR, Hadfield J, Chin SF, Teixeira MR, Giger OT, Hardwick R, di Pietro M, O'Donovan M, Pharoah P, Caldas C, Fitzgerald RC, Tischkowitz M.

Lancet Gastroenterol Hepatol. 2018 Jul;3(7):489-498. doi: 10.1016/S2468-1253(18)30079-7. Epub 2018 Apr 27.

19.

Biologic and clinical characteristics of adolescent and young adult cancers: Acute lymphoblastic leukemia, colorectal cancer, breast cancer, melanoma, and sarcoma.

Tricoli JV, Blair DG, Anders CK, Bleyer WA, Boardman LA, Khan J, Kummar S, Hayes-Lattin B, Hunger SP, Merchant M, Seibel NL, Thurin M, Willman CL.

Cancer. 2016 Apr 1;122(7):1017-28. doi: 10.1002/cncr.29871. Epub 2016 Feb 5. Review.

20.

Increased incidence of FBXW7 and POLE proofreading domain mutations in young adult colorectal cancers.

Kothari N, Teer JK, Abbott AM, Srikumar T, Zhang Y, Yoder SJ, Brohl AS, Kim RD, Reed DR, Shibata D.

Cancer. 2016 Sep 15;122(18):2828-35. doi: 10.1002/cncr.30082. Epub 2016 May 31.

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