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2022

Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer

Ghezelayagh TS, Kohrn BF, Fredrickson J, Manhardt E, Radke MR, Katz R, Gray HJ, Urban RR, Pennington KP, Liao JB, Doll KM, Simons EJ, Burzawa JK, Goff BA, Speiser P, Swisher EM, Norquist BM, Risques RA. Cancer Res Commun. 2022 Oct;2(10):1282-1292. doi: 10.1158/2767-9764.crc-22-0314. PMID: 36311816

Antiprogestins reduce epigenetic field cancerization in breast tissue of young healthy women.

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Bartlett TE, Evans I, Jones A, Barrett JE, Haran S, Reisel D, Papaikonomou K, Jones L, Herzog C, Pashayan N, Simões BM, Clarke RB, Evans DG, Ghezelayagh TS, Ponandai-Srinivasan S, Boggavarapu NR, Lalitkumar PG, Howell SJ, Risques RA, Rådestad AF, Dubeau L, Gemzell-Danielsson K, Widschwendter M. Genome Med. 2022 Jun 15;14(1):64. doi: 10.1186/s13073-022-01063-5.PMID: 35701800

Colorectal Cancer Is Associated with the Presence of Cancer Driver Mutations in Normal Colon.

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Matas J, Kohrn B, Fredrickson J, Carter K, Yu M, Wang T, Gui X, Soussi T, Moreno V, Grady WM, Peinado MA, Risques RA. Cancer Res. 2022 Apr 15;82(8):1492-1502. doi: 10.1158/0008-5472.CAN-21-3607.PMID: 35425963

Publications: List

2021

PolyG-DS: An ultrasensitive polyguanine tract-profiling method to detect clonal expansions and trace cell lineage.

Zhang Y, Kohrn BF, Yang M, Nachmanson D, Soong TR, Lee IH, Tao Y, Clevers H, Swisher EM, Brentnall TA, Loeb LA, Kennedy SR, Salk JJ, Naxerova K, Risques RA.Proc Natl Acad Sci U S A. 2021 Aug 3;118(31):e2023373118. doi: 10.1073/pnas.2023373118. PMID: 34330826

Characterizing TP53 mutations in ovarian carcinomas with and without concurrent BRCA1 or BRCA2 mutations.

Ghezelayagh TS, Pennington KP, Norquist BM, Khasnavis N, Radke MR, Kilgore MR, Garcia RL, Lee M, Katz R, Leslie KK, Risques RA, Swisher EM.Gynecol Oncol. 2021 Mar;160(3):786-792. doi: 10.1016/j.ygyno.2020.12.007. Epub 2020 Dec 26. PMID: 33375991

Publications: List

2020

Telomere Length is a Susceptibility Marker for Tasmanian Devil Facial Tumor Disease.

Smith LE, Jones ME, Hamede R, Risques R, Patton AH, Carter PA, Storfer A. Ecohealth. 2020 Sep;17(3):280-291. doi: 10.1007/s10393-020-01491-y. Epub 2020 Oct 30.PMID: 33128102

Telomere-to-telomere assembly of a complete human X chromosome.

Miga KH, Koren S, Rhie A, Vollger MR, Gershman A, Bzikadze A, Brooks S, Howe E, Porubsky D, Logsdon GA, Schneider VA, Potapova T, Wood J, Chow W, Armstrong J, Fredrickson J, Pak E, Tigyi K, Kremitzki M, Markovic C, Maduro V, Dutra A, Bouffard GG, Chang AM, Hansen NF, Wilfert AB, Thibaud-Nissen F, Schmitt AD, Belton JM, Selvaraj S, Dennis MY, Soto DC, Sahasrabudhe R, Kaya G, Quick J, Loman NJ, Holmes N, Loose M, Surti U, Risques RA, Graves Lindsay TA, Fulton R, Hall I, Paten B, Howe K, Timp W, Young A, Mullikin JC, Pevzner PA, Gerton JL, Sullivan BA, Eichler EE, Phillippy AM.Nature. 2020 Sep;585(7823):79-84. doi: 10.1038/s41586-020-2547-7. Epub 2020 Jul 14.PMID: 32663838

Characterization of TP53 mutations in Pap test DNA of women with and without serous ovarian carcinoma.

Krimmel-Morrison JD, Ghezelayagh TS, Lian S, Zhang Y, Fredrickson J, Nachmanson D, Baker KT, Radke MR, Hun E, Norquist BM, Emond MJ, Swisher EM, Risques RA.Gynecol Oncol. 2020 Feb;156(2):407-414. doi: 10.1016/j.ygyno.2019.11.124. Epub 2019 Dec 12.PMID: 31839337

Publications: List

2019

Cancer-Associated Mutations but No Cancer: Insights into the Early Steps of Carcinogenesis and Implications for Early Cancer Detection.

Kennedy SR, Zhang Y, Risques RA.Trends Cancer. 2019 Sep;5(9):531-540. doi: 10.1016/j.trecan.2019.07.007. Epub 2019 Aug 22.PMID: 31474358

Ultra-Sensitive TP53 Sequencing for Cancer Detection Reveals Progressive Clonal Selection in Normal Tissue over a Century of Human Lifespan.

Salk JJ, Loubet-Senear K, Maritschnegg E, Valentine CC, Williams LN, Higgins JE, Horvat R, Vanderstichele A, Nachmanson D, Baker KT, Emond MJ, Loter E, Tretiakova M, Soussi T, Loeb LA, Zeillinger R, Speiser P, Risques RA.Cell Rep. 2019 Jul 2;28(1):132-144.e3. doi: 10.1016/j.celrep.2019.05.109.PMID: 31269435

​*Selected as most impactful article in the field of women's health in 2019 by the Columbia Hospital for Women Research Foundation

Mitochondrial DNA Mutations are Associated with Ulcerative Colitis Preneoplasia but Tend to be Negatively Selected in Cancer.

Baker KT, Nachmanson D, Kumar S, Emond MJ, Ussakli C, Brentnall TA, Kennedy SR, Risques RA.Mol Cancer Res. 2019 Feb;17(2):488-498. doi: 10.1158/1541-7786.MCR-18-0520. Epub 2018 Nov 16.PMID: 30446624

Publications: List

2018

Targeted genome fragmentation with CRISPR/Cas9 enables fast and efficient enrichment of small genomic regions and ultra-accurate sequencing with low DNA input (CRISPR-DS).

Nachmanson D, Lian S, Schmidt EK, Hipp MJ, Baker KT, Zhang Y, Tretiakova M, Loubet-Senear K, Kohrn BF, Salk JJ, Kennedy SR, Risques RA.Genome Res. 2018 Oct;28(10):1589-1599. doi: 10.1101/gr.235291.118. Epub 2018 Sep 19.PMID: 30232196

Seshat: A Web service for accurate annotation, validation, and analysis of TP53 variants generated by conventional and next-generation sequencing.

Tikkanen T, Leroy B, Fournier JL, Risques RA, Malcikova J, Soussi T.Hum Mutat. 2018 Jul;39(7):925-933. doi: 10.1002/humu.23543. Epub 2018 May 17.PMID: 29696732

All's well that ends well: why large species have short telomeres.

Risques RA, Promislow DEL.Philos Trans R Soc Lond B Biol Sci. 2018 Mar 5;373(1741):20160448. doi: 10.1098/rstb.2016.0448.PMID: 29335372

Aging and the rise of somatic cancer-associated mutations in normal tissues.

Risques RA, Kennedy SR.PLoS Genet. 2018 Jan 4;14(1):e1007108. doi: 10.1371/journal.pgen.1007108. eCollection 2018 Jan.PMID: 29300727

Precancer in ulcerative colitis: the role of the field effect and its clinical implications.

Baker KT, Salk JJ, Brentnall TA, Risques RA.Carcinogenesis. 2018 Jan 12;39(1):11-20. doi: 10.1093/carcin/bgx117.PMID: 29087436

Publications: List

SELECTED PUBLICATIONS PRIOR TO 2018

Ultra-deep sequencing detects ovarian cancer cells in peritoneal fluid and reveals somatic TP53 mutations in noncancerous tissues.

Krimmel JD, Schmitt MW, Harrell MI, Agnew KJ, Kennedy SR, Emond MJ, Loeb LA, Swisher EM, Risques RA.Proc Natl Acad Sci U S A. 2016 May 24;113(21):6005-10. doi: 10.1073/pnas.1601311113. Epub 2016 May 5.PMID: 27152024

Telomere length attrition and chronic periodontitis: an ARIC Study nested case-control study.

Sanders AE, Divaris K, Naorungroj S, Heiss G, Risques RA.J Clin Periodontol. 2015 Jan;42(1):12-20. doi: 10.1111/jcpe.12337. Epub 2014 Dec 26.PMID: 25418689

Shorter Ends, Faster End? Leukocyte Telomere Length and Mortality Among Older Taiwanese.

Glei DA, Goldman N, Weinstein M, Risques RA.J Gerontol A Biol Sci Med Sci. 2015 Dec;70(12):1490-8. doi: 10.1093/gerona/glu191. Epub 2014 Oct 17.PMID: 25326284

Detecting ultralow-frequency mutations by Duplex Sequencing.

Kennedy SR, Schmitt MW, Fox EJ, Kohrn BF, Salk JJ, Ahn EH, Prindle MJ, Kuong KJ, Shen JC, Risques RA, Loeb LA.Nat Protoc. 2014 Nov;9(11):2586-606. doi: 10.1038/nprot.2014.170. Epub 2014 Oct 9.PMID: 25299156

Clonal expansions and short telomeres are associated with neoplasia in early-onset, but not late-onset, ulcerative colitis.

Salk JJ, Bansal A, Lai LA, Crispin DA, Ussakli CH, Horwitz MS, Bronner MP, Brentnall TA, Loeb LA, Rabinovitch PS, Risques RA.Inflamm Bowel Dis. 2013 Nov;19(12):2593-602. doi: 10.1097/MIB.0b013e3182a87640.PMID: 24097228

Mitochondria and tumor progression in ulcerative colitis.

Ussakli CH, Ebaee A, Binkley J, Brentnall TA, Emond MJ, Rabinovitch PS, Risques RA.J Natl Cancer Inst. 2013 Aug 21;105(16):1239-48. doi: 10.1093/jnci/djt167. Epub 2013 Jul 12.PMID: 23852949

Ulcerative colitis-associated colorectal cancer arises in a field of short telomeres, senescence, and inflammation.

Risques RA, Lai LA, Himmetoglu C, Ebaee A, Li L, Feng Z, Bronner MP, Al-Lahham B, Kowdley KV, Lindor KD, Rabinovitch PS, Brentnall TA.Cancer Res. 2011 Mar 1;71(5):1669-79. doi: 10.1158/0008-5472.CAN-10-1966.PMID: 21363920

Leukocyte telomere length is associated with disability in older u.s. Population.

Risques RA, Arbeev KG, Yashin AI, Ukraintseva SV, Martin GM, Rabinovitch PS, Oshima J.J Am Geriatr Soc. 2010 Jul;58(7):1289-98. doi: 10.1111/j.1532-5415.2010.02948.x. Epub 2010 Jun 23.PMID: 20579170

Clonal expansions in ulcerative colitis identify patients with neoplasia.

Salk JJ, Salipante SJ, Risques RA, Crispin DA, Li L, Bronner MP, Brentnall TA, Rabinovitch PS, Horwitz MS, Loeb LA.Proc Natl Acad Sci U S A. 2009 Dec 8;106(49):20871-6. doi: 10.1073/pnas.0909428106. Epub 2009 Nov 19.PMID: 19926851

Ulcerative colitis is a disease of accelerated colon aging: evidence from telomere attrition and DNA damage.

Risques RA, Lai LA, Brentnall TA, Li L, Feng Z, Gallaher J, Mandelson MT, Potter JD, Bronner MP, Rabinovitch PS.Gastroenterology. 2008 Aug;135(2):410-8. doi: 10.1053/j.gastro.2008.04.008. Epub 2008 Apr 15.PMID: 18519043

Leukocyte telomere length predicts cancer risk in Barrett's esophagus.

Risques RA, Vaughan TL, Li X, Odze RD, Blount PL, Ayub K, Gallaher JL, Reid BJ, Rabinovitch PS.Cancer Epidemiol Biomarkers Prev. 2007 Dec;16(12):2649-55. doi: 10.1158/1055-9965.EPI-07-0624.PMID: 18086770

Publications: List
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