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Page 1
Clinical and Functional Significance of TP53 Exon 4-Intron 4 Splice Junction Variants.
Pinto EM, Maxwell KN, Halalsheh H, Phillips A, Powers J, MacFarland S, Walsh MF, Breen K, Formiga MN, Kriwacki R, Nichols KE, Mostafavi R, Wang J, Clay MR, Rodriguez-Galindo C, Ribeiro RC, Zambetti GP. Pinto EM, et al. Among authors: powers j. Mol Cancer Res. 2022 Feb;20(2):207-216. doi: 10.1158/1541-7786.MCR-21-0583. Epub 2021 Oct 21. Mol Cancer Res. 2022. PMID: 34675114 Free PMC article.
Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.
Maxwell KN, Wubbenhorst B, D'Andrea K, Garman B, Long JM, Powers J, Rathbun K, Stopfer JE, Zhu J, Bradbury AR, Simon MS, DeMichele A, Domchek SM, Nathanson KL. Maxwell KN, et al. Among authors: powers j. Genet Med. 2015 Aug;17(8):630-8. doi: 10.1038/gim.2014.176. Epub 2014 Dec 11. Genet Med. 2015. PMID: 25503501 Free PMC article.
Research participants' experiences with return of genetic research results and preferences for web-based alternatives.
Gaieski JB, Patrick-Miller L, Egleston BL, Maxwell KN, Walser S, DiGiovanni L, Brower J, Fetzer D, Ganzak A, McKenna D, Long JM, Powers J, Stopfer JE, Nathanson KL, Domchek SM, Bradbury AR. Gaieski JB, et al. Among authors: powers j. Mol Genet Genomic Med. 2019 Sep;7(9):e898. doi: 10.1002/mgg3.898. Epub 2019 Aug 3. Mol Genet Genomic Med. 2019. PMID: 31376244 Free PMC article. Clinical Trial.
Frequency of radiation-induced malignancies post-adjuvant radiotherapy for breast cancer in patients with Li-Fraumeni syndrome.
Le AN, Harton J, Desai H, Powers J, Zelley K, Bradbury AR, Nathanson KL, Shah PD, Doucette A, Freedman GM, Gabriel P, Domchek SM, MacFarland SP, Maxwell KN. Le AN, et al. Among authors: powers j. Breast Cancer Res Treat. 2020 May;181(1):181-188. doi: 10.1007/s10549-020-05612-7. Epub 2020 Apr 3. Breast Cancer Res Treat. 2020. PMID: 32246378 Free PMC article.
A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers.
Powers J, Pinto EM, Barnoud T, Leung JC, Martynyuk T, Kossenkov AV, Philips AH, Desai H, Hausler R, Kelly G, Le AN, Li MM, MacFarland SP, Pyle LC, Zelley K, Nathanson KL, Domchek SM, Slavin TP, Weitzel JN, Stopfer JE, Garber JE, Joseph V, Offit K, Dolinsky JS, Gutierrez S, McGoldrick K, Couch FJ, Levin B, Edelman MC, Levy CF, Spunt SL, Kriwacki RW, Zambetti GP, Ribeiro RC, Murphy ME, Maxwell KN. Powers J, et al. Cancer Res. 2020 Sep 1;80(17):3732-3744. doi: 10.1158/0008-5472.CAN-20-1390. Epub 2020 Jul 16. Cancer Res. 2020. PMID: 32675277 Free PMC article.
Upper Gastrointestinal Cancer Risk and Surveillance Outcomes in Li-Fraumeni Syndrome.
Katona BW, Powers J, McKenna DB, Long JM, Le AN, Hausler R, Zelley K, Jennings S, Domchek SM, Nathanson KL, MacFarland SP, Maxwell KN. Katona BW, et al. Among authors: powers j. Am J Gastroenterol. 2020 Dec;115(12):2095-2097. doi: 10.14309/ajg.0000000000000935. Am J Gastroenterol. 2020. PMID: 32969947 Free PMC article.
Germline POT1 variants can predispose to myeloid and lymphoid neoplasms.
Lim TL, Lieberman DB, Davis AR, Loren AW, Hausler R, Bigdeli A, Li Y, Powers J, Raper A, Regeneron Genetics Center, Carty SA, Nathanson KL, Bagg A, Hexner EO, Maxwell KN, Morrissette JJD, Babushok DV. Lim TL, et al. Among authors: powers j. Leukemia. 2022 Jan;36(1):283-287. doi: 10.1038/s41375-021-01335-w. Epub 2021 Jun 30. Leukemia. 2022. PMID: 34193977 Free PMC article. No abstract available.
EUS-based Pancreatic Cancer Surveillance in BRCA1/BRCA2/PALB2/ATM Carriers Without a Family History of Pancreatic Cancer.
Katona BW, Long JM, Ahmad NA, Attalla S, Bradbury AR, Carpenter EL, Clark DF, Constantino G, Das KK, Domchek SM, Dudzik C, Ebrahimzadeh J, Ginsberg GG, Heiman J, Kochman ML, Maxwell KN, McKenna DB, Powers J, Shah PD, Wangensteen KJ, Rustgi AK. Katona BW, et al. Among authors: powers j. Cancer Prev Res (Phila). 2021 Nov;14(11):1033-1040. doi: 10.1158/1940-6207.CAPR-21-0161. Epub 2021 Aug 2. Cancer Prev Res (Phila). 2021. PMID: 34341011 Free PMC article.
Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.
Lee DJ, Hausler R, Le AN, Kelly G, Powers J, Ding J, Feld E, Desai H, Morrison C, Doucette A, Gabriel P, Genetics Center R, Judy RL, Weaver J, Kember R, Damrauer SM, Rader DJ, Domchek SM, Narayan V, Schwartz LE, Maxwell KN. Lee DJ, et al. Among authors: powers j. Eur Urol. 2022 Jun;81(6):559-567. doi: 10.1016/j.eururo.2021.09.029. Epub 2021 Oct 25. Eur Urol. 2022. PMID: 34711450 Free PMC article.
2,554 results