Faculty

Kara N Maxwell, MD, PhD

faculty photo
Assistant Professor of Medicine
Department: Medicine

Contact information
BRB Room 810
421 Curie Blvd
Philadelphia, PA 19104
Education:
BS (Genetics, Biochemistry)
University of Wisconsin-Madison, 1998.
PhD (Molecular and Cellular Biology)
Rockefeller University, 2006.
MD (Medicine)
Weill Cornell Medical College, 2007.
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Description of Clinical Expertise

cancer risk evaluation, breast cancer risk, hereditary breast ovarian cancer, Li Fraumeni Syndrome, Fanconi Anemia

Description of Research Expertise

I am a Medical Oncologist with postdoctoral training in Cancer Genetics and PhD training in molecular and cellular biology. My research interests are in the genetics of human disease, particularly familial breast and prostate cancers, and in determinants of disease penetrance.

Maxwell Lab
https://www.med.upenn.edu/kmaxwelllab/
We are a translational human genetics and genomics research laboratory studying mechanisms of tumor formation in inherited cancer syndromes. We have a focus on breast and prostate cancer, but are interested in the broad range of tumor types affected by DNA repair deficiency. We are using multi-omics analyses of human samples coupled with in vitro and in vivo modelling systems to understand how tumors form in patients with inherited cancers. We are also interested in environmental and other determinants of disease penetrance in patients at risk for breast and prostate cancer.

In order to perform our studies, we leverage the resources of the Basser Center for BRCA (https://www.basser.org/) and the Penn Medicine Biobank (https://www.itmat.upenn.edu/biobank/). We take a multi-disciplinary approach, collaborating with our colleagues across basic science labs and the clinical arena.

Rotation/Postdoc projects:
1) Mechanisms of tumor formation in CHEK2 mutation carriers
2) Prostate Cancer Genetics
3) Determinants of penetrance and advances in clinical management of low risk TP53 mutation carriers
4) Utility of polygenic risk scores in cancer risk
5) Extreme cholesterol lowering in breast cancer

Lab Members:
Greg Kelly (Lab Manager)
Heena Desai (Bioinformatician)
Ryan Hausler (Bioninformatician)
Maddy Good (Research Specialist)
Anh Le (Clinical Research Coordinator)

Students:
Jimmy Ding

Fellows:
Shun Yu MD
Louise Wang MD

Selected Publications

Bradbury AR, Lee JW, Gaieski JB, Li S, Gareen IF, Flaherty KT, Herman BA, Domchek SM, DeMichele AM, Maxwell KN, Onitilo AA, Virani S, Park S, Faller BA, Grant SC, Ramaekers RC, Behrens RJ, Nambudiri GS, Carlos RC, Wagner LI.: A randomized study of genetic education versus usual care in tumor profiling for advanced cancer in the ECOG-ACRIN Cancer Research Group (EAQ152). Cancer 128(7): 1381-1391, Apr 2022.

Wang L, Desai H, Le A, Hausler R, Verma SS, Verma A, Judy R, Doucette A, Regeneron Genetics Center, Gabriel P, Mowery D, Damrauer SM, Ritchie MD, Rader DJ, Kember RL, Maxwell KN: Performance of polygenic risk scores for cancer prediction in an academic biobank. Genet Med 24(3): 601-609, Mar 2022.

Maxwell KN, Cheng HH, Powers, J, Gulati R, Ledet EM, Morrison C, Le A, Hausler R, Stopfer J, Hyman S, Kohlmann W, Naumer A, Vagher J, Greenberg S, Naylor L, Laurino M, Konnick EQ, Shirts BH, Al-Dubaywan SH, Van Allen EM, Nguyen B, Vijai J, Abida W, Carlo M, Dubard-Gault M, Lee DJ, Maese LD, Mandelker D, Montgomery B, Morris MJ, Nicolosi P, Nussbaum RL, Scwartz LE, Stadler Z, Garber JE, Offit K, Schiffman JD, Neslon PS, Sartor O, Walsh MF, Pritchard CC: Inherited TP53 variants and risk of prostate cancer. Eur Urol 3(21): 243-250, Mar 2022.

Kraya AA, Maxwell KN, Eiva MA, Wubbenhorst B, Pluta J, Feldman M, Nayak A, Powell DJ Jr, Domchek SM, Vonderheide RH, Nathanson KL.: PTEN Loss and BRCA1 Promoter Hypermethylation Negatively Predict for Immunogenicity in BRCA-Deficient Ovarian Cancer. JCO Precis Oncol 6: e2100159, Feb 2022.

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.: Clinical and Functional Significance of TP53 Exon 4-Intron 4 Splice Junction Variants. Mol Cancer Res 20(2): 207-216, Feb 2022 Notes: doi: 10.1158/1541-7786.MCR-21-0583.

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.: Germline POT1 variants can predispose to myeloid and lymphoid neoplasms. Leukemia 36(1): 283-287, Jan 2022 Notes: doi: 10.1038/s41375-021-01335-w. Online ahead of print.

Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arason A, Arnold N, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Belotti M, Benitez J, Berthet P, Boonen SE, Borg Å, Bozsik A, Brady A, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldés T, Caligo MA, Campbell I, Cassingham H, Lotte Christensen L, Cini G, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators, Cook J, Coppa A, Cortesi L, Damante G, Darder E, Davidson R, de la Hoya M, De Leeneer K, de Putter R, Del Valle J, Diez O, Chun Ding Y, Domchek SM, Donaldson A, Eason J, Eeles R, Engel C, Gareth Evans D, Feliubadaló L, Fostira F, Frone M, Frost D, Gallagher D, Gehrig A, Giraud S, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gregory H, Gross E, Hahnen E, Hamann U, Hansen TVO, Hanson H, Hentschel J, Horvath J; KConFab Investigators; HEBON Investigators, Izatt L, Izquierdo A, James PA, Janavicius R, Birk Jensen U, Johannsson OT, John EM, Kramer G, Kroeldrup L, Kruse TA, Lautrup C, Lazaro C, Lesueur F, Lopez-Fernández A, Mai PL, Manoukian S, Matrai Z, Matricardi L, Maxwell KN, Mebirouk N, Meindl A, Montagna M, Monteiro AN, Morrison PJ, Muranen TA, Murray A, Nathanson KL, Neuhausen SL, Nevanlinna H, Nguyen-Dumont T, Niederacher D, Olah E, Olopade OI, Palli D, Parsons MT, Sokilde Pedersen I, Peissel B, Perez-Segura P, Peterlongo P, Petersen AH, Pinto P, Porteous ME, Pottinger C, Angel Pujana M, Radice P, Ramser J, Rantala J, Robson M, Rogers MT, Rønlund K, Rump A, María Sánchez de Abajo A, Shah PD, Sharif S, Side LE, Singer CF, Stadler Z, Steele L, Stoppa-Lyonnet D, Sutter C, Yen Tan Y, Teixeira MR, Teulé A, Thull DL, Tischkowitz M, Toland AE, Tommasi S, Toss A, Trainer AH, Tripathi V, Valentini V, van Asperen CJ, Venturelli M, Viel A, Vijai J, Walker L, Wang-Gohrke S, Wappenschmidt B, Whaite A, Zanna I, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L; Consortium of Investigators of Modifiers of BRCA1 and BRCA2.: Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. J Natl Cancer Inst 114(1): 109-122, Jan 2022 Notes: doi: 10.1093/jnci/djab147.

Mohana Narasimhamurthy, Madeline Good, Anh Le, Heena Desai, Gregory Kelly, Ira Bleisweiss, Kara N. Maxwell, Anupma Nayak: Clinico-pathological Features of Breast Tumors Associated with Li-Fraumeni Syndrome. United Stated Clinical and Anatomic Pathology Annual Meeting, Virtual Dec 2021 Notes: "Poster Presentation"

Sun L, Surya S, Goodman NG, Le AN, Kelly G, Owoyemi O, Desai H, Zheng C, DeLuca S, Good ML, Hussain J, Jeffries SD, Kry YR, Kugler EM, Mansour M, Ndicu J, Osei-Akoto A, Prior T, Pundock SL, Varughese LA, Weaver J, Doucette A, Dudek S, Verma SS, Gouma S, Weirick ME, McAllister CM, Bange E, Gabriel P, Ritchie M, Rader DJ, Vonderheide RH, Schuchter LM, Verma A, Maillard I, Mamtani R, Hensley SE, Gross R, Wileyto EP, Huang AC, Maxwell KN, DeMichele A.: SARS-CoV-2 Seropositivity and Seroconversion in Patients Undergoing Active Cancer-Directed Therapy. JCO Oncol Pract 17(12): e1879-e1886, Dec 2021.

Kratz CP, Freycon C, Maxwell KN, Nichols KE, Schiffman JD, Evans DG, Achatz MI, Savage SA, Weitzel JN, Garber JE, Hainaut P, Malkin D.: Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set: An International Agency for Research on Cancer TP53 Database Analysis. JAMA Oncol 7(12): 1800-1805, Dec 2021.

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Last updated: 04/25/2022
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