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Items: 19

1.

Computational analysis of the mutations in BAP1, PBRM1 and SETD2 genes reveals the impaired molecular processes in renal cell carcinoma.

Piva F, Giulietti M, Occhipinti G, Santoni M, Massari F, Sotte V, Iacovelli R, Burattini L, Santini D, Montironi R, Cascinu S, Principato G.

Oncotarget. 2015 Oct 13;6(31):32161-8. doi: 10.18632/oncotarget.5147.

2.

Aberrant methylation patterns in cancer: a clinical view.

Paska AV, Hudler P.

Biochem Med (Zagreb). 2015 Jun 5;25(2):161-76. doi: 10.11613/BM.2015.017. eCollection 2015. Review.

3.

Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases.

Zhang JX, Fu L, de Voer RM, Hahn MM, Jin P, Lv CX, Verwiel ET, Ligtenberg MJ, Hoogerbrugge N, Kuiper RP, Sheng JQ, Geurts van Kessel A.

World J Gastroenterol. 2015 Apr 14;21(14):4136-49. doi: 10.3748/wjg.v21.i14.4136.

4.

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.

Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.

5.

Estimating risks for variants of unknown significance according to their predicted pathogenicity classes with application to BRCA1.

Dowty JG, Lee E, McKean-Cowdin R, Henderson BE, Bernstein L, Ursin G, Hopper JL.

Breast Cancer Res Treat. 2014 Feb;144(1):171-7. doi: 10.1007/s10549-014-2845-6. Epub 2014 Jan 31.

6.

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M; InSiGHT.

Nat Genet. 2014 Feb;46(2):107-15. doi: 10.1038/ng.2854. Epub 2013 Dec 22.

7.

Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

Buchanan DD, Tan YY, Walsh MD, Clendenning M, Metcalf AM, Ferguson K, Arnold ST, Thompson BA, Lose FA, Parsons MT, Walters RJ, Pearson SA, Cummings M, Oehler MK, Blomfield PB, Quinn MA, Kirk JA, Stewart CJ, Obermair A, Young JP, Webb PM, Spurdle AB.

J Clin Oncol. 2014 Jan 10;32(2):90-100. doi: 10.1200/JCO.2013.51.2129. Epub 2013 Dec 9.

8.

Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.

De Lellis L, Aceto GM, Curia MC, Catalano T, Mammarella S, Veschi S, Fantini F, Battista P, Stigliano V, Messerini L, Mareni C, Sala P, Bertario L, Radice P, Cama A.

PLoS One. 2013 Nov 20;8(11):e81194. doi: 10.1371/journal.pone.0081194. eCollection 2013.

9.

Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.

Drost M, Lützen A, van Hees S, Ferreira D, Calléja F, Zonneveld JB, Nielsen FC, Rasmussen LJ, de Wind N.

Proc Natl Acad Sci U S A. 2013 Jun 4;110(23):9403-8. doi: 10.1073/pnas.1220537110. Epub 2013 May 20.

10.

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

Thompson BA, Greenblatt MS, Vallee MP, Herkert JC, Tessereau C, Young EL, Adzhubey IA, Li B, Bell R, Feng B, Mooney SD, Radivojac P, Sunyaev SR, Frebourg T, Hofstra RM, Sijmons RH, Boucher K, Thomas A, Goldgar DE, Spurdle AB, Tavtigian SV.

Hum Mutat. 2013 Jan;34(1):255-65. doi: 10.1002/humu.22214. Epub 2012 Oct 22.

11.

A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.

Thompson BA, Goldgar DE, Paterson C, Clendenning M, Walters R, Arnold S, Parsons MT, Michael D W, Gallinger S, Haile RW, Hopper JL, Jenkins MA, Lemarchand L, Lindor NM, Newcomb PA, Thibodeau SN; Colon Cancer Family Registry, Young JP, Buchanan DD, Tavtigian SV, Spurdle AB.

Hum Mutat. 2013 Jan;34(1):200-9. doi: 10.1002/humu.22213. Epub 2012 Oct 11.

12.

Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency.

Wang L, Tsutsumi S, Kawaguchi T, Nagasaki K, Tatsuno K, Yamamoto S, Sang F, Sonoda K, Sugawara M, Saiura A, Hirono S, Yamaue H, Miki Y, Isomura M, Totoki Y, Nagae G, Isagawa T, Ueda H, Murayama-Hosokawa S, Shibata T, Sakamoto H, Kanai Y, Kaneda A, Noda T, Aburatani H.

Genome Res. 2012 Feb;22(2):208-19. doi: 10.1101/gr.123109.111. Epub 2011 Dec 7.

13.

ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.

Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, Radice P, Stoppa-Lyonnet D, Tavtigian S, Wappenschmidt B, Couch FJ, Goldgar DE; ENIGMA.

Hum Mutat. 2012 Jan;33(1):2-7. doi: 10.1002/humu.21628. Epub 2011 Nov 3.

14.

Pancreatic cancer and a novel MSH2 germline alteration.

Lindor NM, Petersen GM, Spurdle AB, Thompson B, Goldgar DE, Thibodeau SN.

Pancreas. 2011 Oct;40(7):1138-40. doi: 10.1097/MPA.0b013e318220c217.

15.

Rare variants in the ATM gene and risk of breast cancer.

Goldgar DE, Healey S, Dowty JG, Da Silva L, Chen X, Spurdle AB, Terry MB, Daly MJ, Buys SM, Southey MC, Andrulis I, John EM; BCFR; kConFab, Khanna KK, Hopper JL, Oefner PJ, Lakhani S, Chenevix-Trench G.

Breast Cancer Res. 2011 Jul 25;13(4):R73. doi: 10.1186/bcr2919.

16.

Stroke-related translational research.

Caplan LR, Arenillas J, Cramer SC, Joutel A, Lo EH, Meschia J, Savitz S, Tournier-Lasserve E.

Arch Neurol. 2011 Sep;68(9):1110-23. doi: 10.1001/archneurol.2011.99. Epub 2011 May 9. Review.

17.

Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families.

Thodi G, Fostira F, Sandaltzopoulos R, Nasioulas G, Grivas A, Boukovinas I, Mylonaki M, Panopoulos C, Magic MB, Fountzilas G, Yannoukakos D.

BMC Cancer. 2010 Oct 11;10:544. doi: 10.1186/1471-2407-10-544.

18.

An intronic mutation in MLH1 associated with familial colon and breast cancer.

Bianchi F, Raponi M, Piva F, Viel A, Bearzi I, Galizia E, Bracci R, Belvederesi L, Loretelli C, Brugiati C, Corradini F, Baralle D, Cellerino R.

Fam Cancer. 2011 Mar;10(1):27-35. doi: 10.1007/s10689-010-9371-4.

19.

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.

Walker LC, Whiley PJ, Couch FJ, Farrugia DJ, Healey S, Eccles DM, Lin F, Butler SA, Goff SA, Thompson BA, Lakhani SR, Da Silva LM; kConFab Investigators, Tavtigian SV, Goldgar DE, Brown MA, Spurdle AB.

Hum Mutat. 2010 Jun;31(6):E1484-505. doi: 10.1002/humu.21267.

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