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Page 1
A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer.
Vijai J, Topka S, Villano D, Ravichandran V, Maxwell KN, Maria A, Thomas T, Gaddam P, Lincoln A, Kazzaz S, Wenz B, Carmi S, Schrader KA, Hart SN, Lipkin SM, Neuhausen SL, Walsh MF, Zhang L, Lejbkowicz F, Rennert H, Stadler ZK, Robson M, Weitzel JN, Domchek S, Daly MJ, Couch FJ, Nathanson KL, Norton L, Rennert G, Offit K. Vijai J, et al. Among authors: maxwell kn. Cancer Discov. 2016 Nov;6(11):1267-1275. doi: 10.1158/2159-8290.CD-16-0487. Epub 2016 Sep 21. Cancer Discov. 2016. PMID: 27655433 Free PMC article.
Earlier Colorectal Cancer Screening May Be Necessary In Patients With Li-Fraumeni Syndrome.
MacFarland SP, Zelley K, Long JM, McKenna D, Mamula P, Domchek SM, Nathanson KL, Brodeur GM, Rustgi AK, Katona BW, Maxwell KN. MacFarland SP, et al. Among authors: maxwell kn. Gastroenterology. 2019 Jan;156(1):273-274. doi: 10.1053/j.gastro.2018.09.036. Epub 2018 Sep 19. Gastroenterology. 2019. PMID: 30243621 Free PMC article. No abstract available.
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: maxwell kn. 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.
Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.
Fortuno C, Mester J, Pesaran T, Weitzel JN, Dolinsky J, Yussuf A, McGoldrick K, Garber JE, Savage SA, Khincha PP, Gareth Evans D, Achatz MI, Nichols KE, Maxwell KN, Schiffman JD, Sandoval R; Li-Fraumeni Exploration (LIFE) Consortium; James PA, Spurdle AB. Fortuno C, et al. Among authors: maxwell kn. Hum Mutat. 2020 Sep;41(9):1555-1562. doi: 10.1002/humu.24060. Epub 2020 Jun 12. Hum Mutat. 2020. PMID: 32485079 Free PMC article.
XAF1 as a modifier of p53 function and cancer susceptibility.
Pinto EM, Figueiredo BC, Chen W, Galvao HCR, Formiga MN, Fragoso MCBV, Ashton-Prolla P, Ribeiro EMSF, Felix G, Costa TEB, Savage SA, Yeager M, Palmero EI, Volc S, Salvador H, Fuster-Soler JL, Lavarino C, Chantada G, Vaur D, Odone-Filho V, Brugières L, Else T, Stoffel EM, Maxwell KN, Achatz MI, Kowalski L, de Andrade KC, Pappo A, Letouze E, Latronico AC, Mendonca BB, Almeida MQ, Brondani VB, Bittar CM, Soares EWS, Mathias C, Ramos CRN, Machado M, Zhou W, Jones K, Vogt A, Klincha PP, Santiago KM, Komechen H, Paraizo MM, Parise IZS, Hamilton KV, Wang J, Rampersaud E, Clay MR, Murphy AJ, Lalli E, Nichols KE, Ribeiro RC, Rodriguez-Galindo C, Korbonits M, Zhang J, Thomas MG, Connelly JP, Pruett-Miller S, Diekmann Y, Neale G, Wu G, Zambetti GP. Pinto EM, et al. Among authors: maxwell kn. Sci Adv. 2020 Jun 24;6(26):eaba3231. doi: 10.1126/sciadv.aba3231. eCollection 2020 Jun. Sci Adv. 2020. PMID: 32637605 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. Among authors: maxwell kn. 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: maxwell kn. Am J Gastroenterol. 2020 Dec;115(12):2095-2097. doi: 10.14309/ajg.0000000000000935. Am J Gastroenterol. 2020. PMID: 32969947 Free PMC article.
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: maxwell kn. 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.
426 results