Publications

• Association of HOXB13 G84E With Prostate Cancer Among 592,158 Men.
  Journal of the National Comprehensive Cancer Network : JNCCN. 2025 Sep 15;:1-7; Authors: Crawford TB, Nelson T, Karunamuni R, Desai H, Hausler R, Teerlink C, Carter H, Pagadala MS, Alba PR, DuVall SL, Danowski ME, Brunette CA, Ratner D, Garraway IP, Rose BS, Smith JR, Cooney KA, Vassy JL, Hauger RL, Lynch JA, Seibert TM, Maxwell KN

• Chemoresistance of TP53 mutant acute myeloid leukemia requires the mevalonate byproduct, geranylgeranyl pyrophosphate, for induction of an adaptive stress response.
  Leukemia. 2025 Sep;39(9):2087-2098 Epub 2025 Jul 9; Authors: Skuli SJ, Bakayoko A, Kruidenier M, Manning B, Pammer P, Salimov A, Riley O, Brake-Sillá G, Dopkin D, Bowman M, Martinez-Gutierrez LN, Anderson CC, Reisz JA, Buono R, Paul M, Saland E, Liccardo F, DeVine A, Wong S, Xu JP, Nee E, Hausler R, Boettcher S, Sebti SM, Lai C, Maxwell KN, Sarry JE, Fruman DA, D'Alessandro A, Mesaros C, Keith B, Simon MC, Sung PJ, Wertheim G, Skuli N, Bowman RL, Matthews A, Carroll M

• Prognostic Significance of RB1 Alterations on Outcomes in Metastatic Prostate Cancer.
  JCO precision oncology. 2025 Sep;9:e2500341 Epub 2025 Sep 19; Authors: Raychaudhuri R, Garraway IP, Maxwell KN, Rettig M, Desai H, Schoen MW, Schweizer MT, Beltran H, Nelson PS, Montgomery B

• Pathogenic germline variants in a racially diverse real-world cohort of prostate cancer patients.
  medRxiv : the preprint server for health sciences. 2025 Aug 15; Authors: Crawford TB, Tayeb M, Barrett E, Al-Saleem T, Kondam P, Hausler R, Symecko H, Orr C, Wolfe C, Mann D, Spielman K, Wong G, Haas N, Narayan V, Robinson K, Takvorian S, Wong YN, Sokolova A, Montgomery RB, Menendez C, Kelley MJ, Aiello LB, Garraway IP, Domchek SM, Maxwell KN

• Variation at the R181 residue of p53 confers loss of p53 DNA binding cooperativity with the retention of mitochondrial-associated apoptosis.
  bioRxiv : the preprint server for biology. 2025 Aug 13; Authors: Moses R, Indeglia A, Levine AS, Hausler R, Kelly G, Miller SA, Anez I, Heller M, Delgado R, Orr C, Kohlmann W, Naumer A, Vagher J, Cahill SR, Maese LD, Karanicolas J, Garber JE, Murphy ME, Maxwell KN

• Exploration of possible association of BRIP1 pathogenic variants with central nervous system cancers in an institutional cohort.
  Journal of medical genetics. 2025 Aug 7; Authors: Cappadocia J, Maxwell KN, Nathanson KL, Bagley S, Powers J, Halper-Stromberg E, Roth JJ, Domchek S, Shah PD

• Pancreatic Cancer Risk and Screening Outcomes in Li-Fraumeni Syndrome.
  Pancreas. 2025 Aug 1;54(7):e618-e623; Authors: Fernandes CJ, Du YK, Naumer A, Kagami LA, Le A, Good M, Duvall M, Powers J, Zelley K, Maese LD, MacFarland S, Kohlmann W, Maxwell KN, Katona BW

• Prostate cancer incidence and outcomes among Vietnam veterans receiving care in the Veterans Health Administration.
  Cancer. 2025 Aug 1;131(15):e70007; Authors: Green-Lott AY, Wadhwa A, Bailey AV, Kwan L, Haroldsen CL, Shelton JB, Lewis MS, Beenhouwer DO, Chamie K, Rose BS, Maxwell KN, Nickols NG, Yamoah K, Kelley MJ, Rebbeck TR, Schoen M, Rettig MB, Iyer HS, Garraway IP

• Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
  medRxiv : the preprint server for health sciences. 2025 May 26; Authors: Johnatty SE, Tudini E, Parsons MT, Michailidou K, Zanti M, Canson D, Davidson AL, Berger T, Rosti RO, Kratz CP, Kalb R, McReynolds LJ, Giri N, Richardson M, Pesaran T, Surrallés J, Pujol R, Vundinti BR, George M, Maxwell KN, Nathanson K, Domchek S, Fiesco-Roa MÓ, Frias S, Garcia-de-Teresa B, Jongmans M, Lalani S, Maiburg M, Prescott K, Robinson R, Rajagopalan S, Blok LS, Temple SEL, Tucker K, Auerbach AD, Cancio MI, Kennedy JA, MacMillan ML, Tryon R, Wagner JE, Walsh M, Boddicker NJ, Hu C, Weitzel JN, Dingemans AJM, Hadler J, Rotenberg N, Ramadane-Morchadi L, de la Hoya M, James P, Van Overeem Hansen T, Vreeswijk MPG, Walker LC, Sharan SK, Easton DF, Couch F, Smogorzewska A, Nelson A, Ngeow J, Tischkowitz M, Gomez-Garcia E, Spurdle AB

• Update on Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.
  Clinical cancer research : an official journal of the American Association for Cancer Research. 2025 May 15;31(10):1831-1840; Authors: Achatz MI, Villani A, Bertuch AA, Bougeard G, Chang VY, Doria AS, Gallinger B, Godley LA, Greer MC, Kamihara J, Khincha PP, Kohlmann WK, Kratz CP, MacFarland SP, Maese LD, Maxwell KN, Mitchell SG, Nakano Y, Pfister SM, Wasserman JD, Woodward ER, Garber JE, Malkin D

• Somatic Tumor Next-Generation Sequencing in US Veterans With Metastatic Prostate Cancer.
  JAMA network open. 2025 May 1;8(5):e259119; Authors: Valle LF, Li J, Desai H, Hausler R, Haroldsen C, Chatwal M, Ojo M, Kelley MJ, Rebbeck TR, Rose BS, Rettig MB, Nickols NG, Garraway IP, Yamoah K, Maxwell KN

• Update on Cancer and Central Nervous System Tumor Surveillance in Pediatric NF2-, SMARCB1-, and LZTR1-Related Schwannomatosis.
  Clinical cancer research : an official journal of the American Association for Cancer Research. 2025 Apr 14;31(8):1400-1406; Authors: Perrino MR, Jongmans MCJ, Tomlinson GE, Greer MC, Scollon SR, Mitchell SG, Hansford JR, Schultz KAP, Kohlmann WK, Kalish JM, MacFarland SP, Das A, Maxwell KN, Pfister SM, Weksberg R, Michaeli O, Tabori U, Ney GM, Lupo PJ, Brzezinski JJ, Stewart DR, Woodward ER, Kratz CP

• [(18)F]FluorThanatrace PET imaging as a biomarker of response to PARP inhibitors in breast cancer.
  Communications medicine. 2025 Mar 25;5(1):90; Authors: Gitto SB, Pantel AR, Maxwell KN, Pryma DA, Farwell MD, Liu F, Cao Q, O'Brien SR, Clark AS, Shah PD, McDonald ES

• Clinicopathologic Features of Breast Tumors in Germline TP53 Variant-Associated Li-Fraumeni Syndrome.
  The American journal of surgical pathology. 2025 Mar 1;49(3):195-205 Epub 2024 Dec 4; Authors: Narasimhamurthy M, Le A, Boruah N, Moses R, Kelly G, Bleiweiss I, Maxwell KN, Nayak A

• Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
  medRxiv : the preprint server for health sciences. 2025 Feb 6; Authors: Corbett RJ, Kaufman RS, McQuaid SW, Vaksman Z, Phul S, Brown MA, Mason JL, Waszak SM, Zhang B, Zhong C, Desai H, Hausler R, Naqvi AS, Chroni A, Geng Z, Gonzalez EM, Zhu Y, Heath AP, Li M, Penn Medicine BioBank, Regeneron Genetics Center, Storm PB, Resnick AC, Maxwell KN, Cole KA, Waanders AJ, Bornhorst M, MacFarland SP, Rokita JL, Diskin SJ

• Pathogenic Germline Variants in Patients With Metaplastic Breast Cancer.
  JAMA network open. 2025 Feb 3;8(2):e2460312; Authors: Demarest K, Anantharajah A, Maxwell KN, Rohanizadegan M, Bradbury A, Nathanson KL, McCarthy AM, Domchek SM, Nayak A, Shah PD

• Specificity of a polygenic score for aggressive prostate cancer.
  medRxiv : the preprint server for health sciences. 2025 Jan 25; Authors: Dornisch AM, Xu GJ, Karunamuni R, Brunette CA, Danowski ME, Teerlink CC, Gaziano JM, Garraway IP, Hauger RL, Kibel AS, Lynch JA, Maxwell KN, Rose BS, Andreassen OA, Dale AM, Donovan JL, Hamdy F, Lane A, Mills IG, Martin RM, Neal DE, Turner EL, Wolk A, PRACTICAL Consortium, VA Million Veteran Program, Vassy JL, Seibert T

• Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex.
  Clinical cancer research : an official journal of the American Association for Cancer Research. 2025 Jan 17;31(2):234-244; Authors: Schultz KAP, MacFarland SP, Perrino MR, Mitchell SG, Kamihara J, Nelson AT, Mallinger PHR, Brzezinski JJ, Maxwell KN, Woodward ER, Gallinger B, Kim SY, Greer MC, Schneider KW, Scollon SR, Das A, Wasserman JD, Eng C, Malkin D, Foulkes WD, Michaeli O, Bauer AJ, Stewart DR

• Multi-ethnic heterozygote frequencies of cancer susceptibility genes to inform counseling of reproductive risk.
  Genetics in medicine : official journal of the American College of Medical Genetics. 2025 Jan;27(1):101246 Epub 2024 Nov 21; Authors: Powers J, Wachtel H, Trujillo E, Desai H, Hausler R, Conway L, Wubbenhorst B, Penn Medicine BioBank, Regeneron Genetics Center, Domchek SM, Nathanson KL, Maxwell KN

• Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies.
  Clinical cancer research : an official journal of the American Association for Cancer Research. 2024 Nov 1;30(21):4834-4843; Authors: Perrino MR, Das A, Scollon SR, Mitchell SG, Greer MC, Yohe ME, Hansford JR, Kalish JM, Schultz KAP, MacFarland SP, Kohlmann WK, Lupo PJ, Maxwell KN, Pfister SM, Weksberg R, Michaeli O, Jongmans MCJ, Tomlinson GE, Brzezinski J, Tabori U, Ney GM, Gripp KW, Gross AM, Widemann BC, Stewart DR, Woodward ER, Kratz CP

• Radiation-Associated Secondary Cancer in Patients With Breast Cancer Harboring TP53 Germline Variants.
  JAMA oncology. 2024 Nov 1;10(11):1588-1590; Authors: Cederquist GY, Boe LA, Walsh M, Freedman GM, Maxwell KN, Taunk N, Braunstein LZ

• Oncogenic Alterations, Race, and Survival in US Veterans with Metastatic Prostate Cancer Undergoing Somatic Tumor Next Generation Sequencing.
  bioRxiv : the preprint server for biology. 2024 Oct 25; Authors: Valle LF, Li J, Desai H, Hausler R, Haroldsen C, Chatwal M, Ojo M, Kelley MJ, Rebbeck T, Rose BS, Rettig MB, Nickols NG, Garraway IP, Yamoah K, Maxwell KN

• Adaptation of the socioecological model to address disparities in engagement of Black men in prostate cancer genetic testing.
  BMC public health. 2024 Sep 18;24(1):2533; Authors: Leader AE, Rebbeck TR, Oh WK, Patel AV, Winer EP, Bailey LO, Gomella LG, Lumpkins CY, Garraway IP, Aiello LB, Baskin ML, Cheng HH, Cooney KA, Ganzak A, George DJ, Halabi S, Hathaway F, Healy C, Kim JW, Leapman MS, Loeb S, Maxwell KN, McNair C, Morgan TM, Prindeville B, Soule HR, Steward WL, Suttiratana SC, Taplin ME, Yamoah K, Fortune T, Bennett K, Blanding-Godbolt J, Gross L, Giri VN

• Insights on Future Directions in Cancer Research from the AACR NextGen Stars.
  Cancer discovery. 2024 Sep 4;14(9):1584-1589; Authors: Cañadas I, Casirati G, Houlahan KE, Maxwell KN, Mehta A, Parolia A, Saulnier O, Taylor AM, Thomas CE, Vázquez-García I

• BRCA1, BRCA2, and Associated Cancer Risks and Management for Male Patients: A Review.
  JAMA oncology. 2024 Sep 1;10(9):1272-1281; Authors: Cheng HH, Shevach JW, Castro E, Couch FJ, Domchek SM, Eeles RA, Giri VN, Hall MJ, King MC, Lin DW, Loeb S, Morgan TM, Offit K, Pritchard CC, Schaeffer EM, Szymaniak BM, Vassy JL, Katona BW, Maxwell KN

• Assessing olaparib efficacy in U.S. Veterans with metastatic prostate cancer utilizing a time-indifferent g-rate method ideal for real-world analyses.
  EBioMedicine. 2024 Sep;107:105288 Epub 2024 Aug 23; Authors: Leuva H, Zhou M, Jamaleddine N, Meseha M, Faiena I, Anna Park YH, McWilliams G, Luhrs C, Maxwell KN, Von Hoff D, Bates SE, Fojo T

• Tumor suppressor heterozygosity and homologous recombination deficiency mediate resistance to front-line therapy in breast cancer.
  bioRxiv : the preprint server for biology. 2024 Aug 26; Authors: Safonov A, Marra A, Bandlamudi C, O'Leary B, Wubbenhorst B, Ferraro E, Moiso E, Lee M, An J, Donoghue MTA, Will M, Pareja F, Nizialek E, Lukashchuk N, Sofianopoulou E, Liu Y, Huang X, Ahmed M, Mehine MM, Ross D, Mandelker D, Ladanyi M, Schultz N, Berger MF, Scaltriti M, Reis-Filho JS, Li BT, Offit K, Norton L, Shen R, Shah S, Maxwell KN, Couch F, Domchek SM, Solit DB, Nathanson KL, Robson ME, Turner NC, Chandarlapaty S, Razavi P

• Validation of Biomechanical Computed Tomography for Fracture Risk Classification in Metastatic Hormone-sensitive Prostate Cancer.
  European urology oncology. 2024 Aug;7(4):794-803 Epub 2023 Nov 4; Authors: Lin JK, Hearn CM, Getzen E, Long Q, Lee DC, Keaveny TM, Jayadevappa R, Robinson KW, Wong YN, Maxwell KN, Narayan V, Haas NB, Takvorian SU, Bikle DD, Chiang JM, Khan AN, Rajapakse CS, Morgans AK, Parikh RB

• Disrupting prostate cancer research: Challenge accepted; report from the 2023 Coffey-Holden Prostate Cancer Academy Meeting.
  The Prostate. 2024 Aug;84(11):993-1015 Epub 2024 Apr 29; Authors: Miyahira AK, Kamran SC, Jamaspishvili T, Marshall CH, Maxwell KN, Parolia A, Zorko NA, Pienta KJ, Soule HR

• Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence.
  Journal of the National Cancer Institute. 2024 Aug 1;116(8):1356-1365; Authors: Luo M, Wong D, Zelley K, Wu J, Schubert J, Denenberg EH, Fanning EA, Chen J, Gallo D, Golenberg N, Patel M, Conlin LK, Maxwell KN, Wertheim GB, Surrey LF, Zhong Y, Brodeur GM, MacFarland SP, Li MM

• Prevalence of H. pylori and Gastric Intestinal Metaplasia in BRCA1 and BRCA2 Carriers.
  Cancer prevention research (Philadelphia, Pa.). 2024 Jul 2;17(7):305-309; Authors: Niccum BA, Coughlin S, Clay D, Heiman J, Buckley KH, Dungan M, Daniel MG, Ruiz J, Maxwell KN, Domchek SM, Leung G, Ahmad NA, Ginsberg GG, Kochman ML, Katona BW

• PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients.
  Genetics in medicine open. 2024;2:101858 Epub 2024 Jun 10; Authors: Cappadocia J, Aiello LB, Kelley MJ, Katona BW, Maxwell KN, Penn Medicine BioBank, Regeneron Genetics Center

• Clinical management of TP53 mosaic variants found on germline genetic testing.
  Cancer genetics. 2024 Jun;284-285:43-47 Epub 2024 Apr 23; Authors: Ward A, Farengo-Clark D, McKenna DB, Safonov A, Good M, Le A, Kessler L, Shah PD, Bradbury AR, Domchek SM, Nathanson KL, Powers J, Maxwell KN

• Toward Application of Polygenic Risk Scores to Both Enhance and Deintensify Breast Cancer Screening.
  Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2024 May 1;42(13):1462-1465 Epub 2024 Feb 29; Authors: Maxwell KN, Domchek SM

• Racial Differences in Germline Genetic Testing Completion Among Males With Pancreatic, Breast, or Metastatic Prostate Cancers.
  Journal of the National Comprehensive Cancer Network : JNCCN. 2024 Apr 17;22(4):237-243; Authors: Shevach JW, Candelieri-Surette D, Lynch JA, Hubbard RA, Alba PR, Glanz K, Parikh RB, Maxwell KN

• Distinct genomic and immunologic tumor evolution in germline TP53-driven breast cancers.
  bioRxiv : the preprint server for biology. 2024 Apr 5; Authors: Boruah N, Hoyos D, Moses R, Hausler R, Desai H, Le AN, Good M, Kelly G, Raghavakaimal A, Tayeb M, Narasimhamurthy M, Doucette A, Gabriel P, Feldman MJ, Park J, de Rodas ML, Schalper KA, Goldfarb SB, Nayak A, Levine AJ, Greenbaum BD, Maxwell KN

• Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes.
  European urology. 2024 Apr;85(4):337-345 Epub 2023 May 26; Authors: Pyle LC, Kim J, Bradfield J, Damrauer SM, D'Andrea K, Einhorn LH, Godse R, Hakonarson H, Kanetsky PA, Kember RL, Jacobs LA, Maxwell KN, Rader DJ, Vaughn DJ, Weathers B, Wubbenhorst B, Regeneron Genetics Center Research Team, Cancer Genomics Research Laboratory, Greene MH, Nathanson KL, Stewart DR

• Neighborhood Deprivation, Race and Ethnicity, and Prostate Cancer Outcomes Across California Health Care Systems.
  JAMA network open. 2024 Mar 4;7(3):e242852; Authors: Wadhwa A, Roscoe C, Duran EA, Kwan L, Haroldsen CL, Shelton JB, Cullen J, Knudsen BS, Rettig MB, Pyarajan S, Nickols NG, Maxwell KN, Yamoah K, Rose BS, Rebbeck TR, Iyer HS, Garraway IP

• Is It Time to Incorporate Liquid Biopsy into High-Risk Cancer Surveillance Protocols in Li-Fraumeni Syndrome?
  Cancer discovery. 2024 Jan 12;14(1):23-25; Authors: Latham A, MacFarland SP, Walsh MF, Maxwell KN, Stadler ZK

• Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants.
  HGG advances. 2024 Jan 11;5(1):100242 Epub 2023 Sep 29; Authors: de Andrade KC, Strande NT, Kim J, Haley JS, Hatton JN, Frone MN, Khincha PP, Thone GM, Mirshahi UL, Schneider C, Desai H, Dove JT, Smelser DT, Penn Medicine BioBank, Regeneron Genetics Center, Levine AJ, Maxwell KN, Stewart DR, Carey DJ, Savage SA

• Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility.
  HGG advances. 2024 Jan 11;5(1):100244 Epub 2023 Oct 4; Authors: Pinto EM, Fridman C, Figueiredo BC, Salvador H, Teixeira MR, Pinto C, Pinheiro M, Kratz CP, Lavarino C, Legal EAMF, Le A, Kelly G, Koeppe E, Stoffel EM, Breen K, Hahner S, Heinze B, Techavichit P, Krause A, Ogata T, Fujisawa Y, Walsh MF, Rana HQ, Maxwell KN, Garber JE, Rodriguez-Galindo C, Ribeiro RC, Zambetti GP

• Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival.
  Journal of the National Cancer Institute. 2024 Jan 10;116(1):149-159; Authors: Kim J, Vaksman Z, Egolf LE, Kaufman R, Evans JP, Conkrite KL, Danesh A, Lopez G, Randall MP, Dent MH, Farra LM, Menghani NL, Dymek M, Desai H, Hausler R, Hicks B, Guidry Auvil M, Gerhard DS, Hakonarson H, Maxwell KN, Cole KA, Pugh TJ, Bosse KR, Khan J, Wei JS, Maris JM, Stewart DR, Diskin SJ

• "Likely Pathogenic Heterozygous ATM Gene Mutation": Not Always What It Seems.
  International journal of radiation oncology, biology, physics. 2024 Jan 1;118(1):10; Authors: Vapiwala N, Maxwell KN

• In Reply to "Pathogenic/Likely Pathogenic Somatic CDK12 Mutations in Black Men With Prostate Cancer".
  The oncologist. 2023 Nov 2;28(11):e1129-e1130; Authors: Valle LF, Nickols NG, Yamoah K, Garraway IP, Maxwell KN, Lynch JA

• Uptake of Genetic Research Results and Patient-Reported Outcomes With Return of Results Incorporating Web-Based Predisclosure Education.
  Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2023 Nov 1;41(31):4905-4915 Epub 2023 Aug 23; Authors: Kilbride M, Egleston BL, Chung WK, Olopade O, Maxwell KN, Shah P, Churpek JE, Fleisher L, Terry MB, Fetzer D, Gaieski JB, Bulafka J, Espinal A, Karpink K, Walser S, Singleton D, Palese M, Siljander I, Brandt A, Clark D, Koval C, Wynn J, Long JM, McKenna D, Powers J, Nielsen S, Domchek SM, Nathanson KL, Bradbury AR

• NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.
  Journal of the National Comprehensive Cancer Network : JNCCN. 2023 Oct;21(10):1000-1010; Authors: Daly MB, Pal T, Maxwell KN, Churpek J, Kohlmann W, AlHilli Z, Arun B, Buys SS, Cheng H, Domchek SM, Friedman S, Giri V, Goggins M, Hagemann A, Hendrix A, Hutton ML, Karlan BY, Kassem N, Khan S, Khoury K, Kurian AW, Laronga C, Mak JS, Mansour J, McDonnell K, Menendez CS, Merajver SD, Norquist BS, Offit K, Rash D, Reiser G, Senter-Jamieson L, Shannon KM, Visvanathan K, Welborn J, Wick MJ, Wood M, Yurgelun MB, Dwyer MA, Darlow SD

• Rates of Intervention and Cancer Detection on Initial versus Subsequent Whole-body MRI Screening in Li-Fraumeni Syndrome.
  Cancer prevention research (Philadelphia, Pa.). 2023 Sep 1;16(9):507-512; Authors: Kagami LAT, Du YK, Fernandes CJ, Le AN, Good M, Duvall MM, Baldino SE, Powers J, Zelley K, States LJ, Mathew MC, Katona BW, MacFarland SP, Maxwell KN

• On-Site Nurse-Led Cancer Genetics Program Increases Cancer Genetic Testing Completion in Black Veterans.
  JCO oncology practice. 2023 Aug;19(8):637-644 Epub 2023 May 23; Authors: Shevach JW, Aiello LB, Lynch JA, Petersen J, Hoffman-Hogg L, Hartzfeld D, Lundquist M, Kelley MJ, Scheuner MT, Montgomery R, Damjanov N, Robinson K, Wong YN, Jhala D, Parikh RB, Maxwell KN

• Biallelic BRCA Loss and Homologous Recombination Deficiency in Nonbreast/Ovarian Tumors in Germline BRCA1/2 Carriers.
  JCO precision oncology. 2023 Aug;7:e2300036; Authors: Wineland D, Le AN, Hausler R, Kelly G, Barrett E, Desai H, Wubbenhorst B, Pluta J, Bastian P, Symecko H, D'Andrea K, Doucette A, Gabriel P, Reiss KA, Nayak A, Feldman M, Domchek SM, Nathanson KL, Maxwell KN, Regeneron Genetics Center, Penn Medicine Biobank

• Actionable Genomic Alterations in Prostate Cancer Among Black and White United States Veterans.
  The oncologist. 2023 Jun 2;28(6):e473-e477; Authors: Valle LF, Nickols NG, Hausler R, Alba PR, Anglin-Foote T, Perez C, Yamoah K, Rose BS, Kelley MJ, DuVall SL, Garraway IP, Maxwell KN, Lynch JA

• Tumor testing and treatment patterns in veterans with metastatic castration-resistant prostate cancer.
  Seminars in oncology. 2023 Feb-Apr;50(1-2):11-24 Epub 2023 Mar 15; Authors: Hung A, Candelieri D, Li Y, Alba P, Robison B, Agiri F, Perez C, Lee KM, Maxwell KN, Li W, Aggarwal H, Pridgen K, Reed SD, DuVall S, Wong YN, Lynch JA

• Germline pathogenic variants in 786 neuroblastoma patients.
  medRxiv : the preprint server for health sciences. 2023 Jan 25; Authors: Kim J, Vaksman Z, Egolf LE, Kaufman R, Evans JP, Conkrite KL, Danesh A, Lopez G, Randall MP, Dent MH, Farra LM, Menghani N, Dymek M, Desai H, Hausler R, Penn Medicine BioBank, Regeneron Genetics Center, Cancer Genomics Research Laboratory, Guidry Auvil JM, Gerhard DS, Hakonarson H, Maxwell KN, Cole KA, Pugh TJ, Bosse KR, Khan J, Wei JS, Maris JM, Stewart DR, Diskin SJ

• Fanconi anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood.
  Clinical genetics. 2023 Jan;103(1):119-124 Epub 2022 Sep 26; Authors: Maxwell KN, Patel V, Nead KT, Merrill S, Clark D, Jiang Q, Wubbenhorst B, D'Andrea K, Cohen RB, Domchek SM, Morrissette JJD, Greenberg RA, Babushok DV, Nathanson KL

• Reply to Hela Sassi, Olivier Caron, and Etienne Rouleau's Letter to the Editor re: Kara N. Maxwell, Heather H. Cheng, Jacquelyn Powers, et al. Inherited TP53 Variants and Risk of Prostate Cancer. Eur Urol 2022;81:243-50.
  European urology. 2023 Jan;83(1):e28 Epub 2022 Oct 4; Authors: Maxwell KN, Pritchard CC

• Looking closely at overgrowth: Constitutional mosaicism in PTEN hamartoma tumor syndrome.
  Clinical genetics. 2022 Dec;102(6):557-559 Epub 2022 Aug 3; Authors: Newman H, Long JM, Zelley K, Baldino S, Li MM, Maxwell KN, MacFarland SP

• Reply to Joanne L. Dickinson, Georgea R. Foley, and Liesel M. FitzGerald's Letter to the Editor re: Daniel J. Lee, Ryan Hausler, Anh N. Le, et al. Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer. Eur Urol 2022;81:559-67. Red Flags in Association Analyses for Rare Variants.
  European urology. 2022 Dec;82(6):e170-e171 Epub 2022 Sep 14; Authors: Lee DJ, Hausler R, Maxwell KN

• Gastric Cancer Risk and Pathogenesis in BRCA1 and BRCA2 Carriers.
  Cancers. 2022 Dec 1;14(23); Authors: Buckley KH, Niccum BA, Maxwell KN, Katona BW

• Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
  Nature communications. 2022 Nov 7;13(1):6728; Authors: Shah JB, Pueschl D, Wubbenhorst B, Fan M, Pluta J, D'Andrea K, Hubert AP, Shilan JS, Zhou W, Kraya AA, Llop Guevara A, Ruan C, Serra V, Balmaña J, Feldman M, Morin PJ, Nayak A, Maxwell KN, Domchek SM, Nathanson KL

• Cetuximab-Based vs Carboplatin-Based Chemoradiotherapy for Patients With Head and Neck Cancer.
  JAMA otolaryngology-- head & neck surgery. 2022 Nov 1;148(11):1022-1028; Authors: Sun L, Candelieri-Surette D, Anglin-Foote T, Lynch JA, Maxwell KN, D'Avella C, Singh A, Aakhus E, Cohen RB, Brody RM

• Association Between Up-front Surgery and Risk of Stroke in US Veterans With Oropharyngeal Carcinoma.
  JAMA otolaryngology-- head & neck surgery. 2022 Aug 1;148(8):740-747; Authors: Sun L, Brody R, Candelieri D, Anglin-Foote T, Lynch JA, Maxwell KN, Damrauer S, Ojerholm E, Lukens JN, Cohen RB, Getz KD, Hubbard RA, Ky B

• Transcriptional profiling of single tumour cells from pleural effusions reveals heterogeneity of epithelial to mesenchymal transition and extra-cellular matrix marker expression.
  Clinical and translational medicine. 2022 Jul;12(7):e888; Authors: Sen M, Hausler RM, Dulmage K, Black TA, Murphy W, Pletcher CH Jr, Wang L, Chen C, Yee SS, Bornheimer SJ, Maxwell KN, Stanger BZ, Moore JS, Thompson JC, Carpenter EL

• Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.
  European urology. 2022 Jun;81(6):559-567 Epub 2021 Oct 25; Authors: 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

• The distinct impacts of race and genetic ancestry on health.
  Nature medicine. 2022 May;28(5):890-893; Authors: Rebbeck TR, Mahal B, Maxwell KN, Garraway IP, Yamoah K

• A randomized study of genetic education versus usual care in tumor profiling for advanced cancer in the ECOG-ACRIN Cancer Research Group (EAQ152).
  Cancer. 2022 Apr 1;128(7):1381-1391 Epub 2021 Dec 10; Authors: 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

• Inherited TP53 Variants and Risk of Prostate Cancer.
  European urology. 2022 Mar;81(3):243-250 Epub 2021 Dec 1; Authors: 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 SE, Naylor L, Laurino M, Konnick EQ, Shirts BH, AlDubayan SH, Van Allen EM, Nguyen B, Vijai J, Abida W, Carlo MI, Dubard-Gault M, Lee DJ, Maese LD, Mandelker D, Montgomery B, Morris MJ, Nicolosi P, Nussbaum RL, Schwartz LE, Stadler Z, Garber JE, Offit K, Schiffman JD, Nelson PS, Sartor O, Walsh MF, Pritchard CC

• Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank.
  Genetics in medicine : official journal of the American College of Medical Genetics. 2022 Mar;24(3):601-609 Epub 2021 Nov 30; Authors: Wang L, Desai H, Verma SS, Le A, Hausler R, Verma A, Judy R, Doucette A, Gabriel PE, Regeneron Genetics Center, Nathanson KL, Damrauer SM, Mowery DL, Ritchie MD, Kember RL, Maxwell KN

• Clinical and Functional Significance of TP53 Exon 4-Intron 4 Splice Junction Variants.
  Molecular cancer research : MCR. 2022 Feb;20(2):207-216 Epub 2021 Oct 21; Authors: 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

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

• Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.
  Journal of the National Cancer Institute. 2022 Jan 11;114(1):109-122; Authors: 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 AF, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldés T, Caligo MA, Campbell I, Cassingham H, Christensen LL, 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, Ding YC, Domchek SM, Donaldson A, Eason J, Eeles R, Engel C, Evans DG, 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, Jensen UB, 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, Pedersen IS, Peissel B, Perez-Segura P, Peterlongo P, Petersen AH, Pinto P, Porteous ME, Pottinger C, Pujana MA, Radice P, Ramser J, Rantala J, Robson M, Rogers MT, Rønlund K, Rump A, Sánchez de Abajo AM, Shah PD, Sharif S, Side LE, Singer CF, Stadler Z, Steele L, Stoppa-Lyonnet D, Sutter C, Tan YY, 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

• Germline POT1 variants can predispose to myeloid and lymphoid neoplasms.
  Leukemia. 2022 Jan;36(1):283-287 Epub 2021 Jun 30; Authors: 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

• SARS-CoV-2 Seropositivity and Seroconversion in Patients Undergoing Active Cancer-Directed Therapy.
  JCO oncology practice. 2021 Dec;17(12):e1879-e1886 Epub 2021 Jun 16; Authors: 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

• 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 oncology. 2021 Dec 1;7(12):1800-1805; Authors: Kratz CP, Freycon C, Maxwell KN, Nichols KE, Schiffman JD, Evans DG, Achatz MI, Savage SA, Weitzel JN, Garber JE, Hainaut P, Malkin D

• EUS-based Pancreatic Cancer Surveillance in BRCA1/BRCA2/PALB2/ATM Carriers Without a Family History of Pancreatic Cancer.
  Cancer prevention research (Philadelphia, Pa.). 2021 Nov;14(11):1033-1040 Epub 2021 Aug 2; Authors: 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

• CD8(+) T cells contribute to survival in patients with COVID-19 and hematologic cancer.
  Nature medicine. 2021 Jul;27(7):1280-1289 Epub 2021 May 20; Authors: Bange EM, Han NA, Wileyto P, Kim JY, Gouma S, Robinson J, Greenplate AR, Hwee MA, Porterfield F, Owoyemi O, Naik K, Zheng C, Galantino M, Weisman AR, Ittner CAG, Kugler EM, Baxter AE, Oniyide O, Agyekum RS, Dunn TG, Jones TK, Giannini HM, Weirick ME, McAllister CM, Babady NE, Kumar A, Widman AJ, DeWolf S, Boutemine SR, Roberts C, Budzik KR, Tollett S, Wright C, Perloff T, Sun L, Mathew D, Giles JR, Oldridge DA, Wu JE, Alanio C, Adamski S, Garfall AL, Vella LA, Kerr SJ, Cohen JV, Oyer RA, Massa R, Maillard IP, Maxwell KN, Reilly JP, Maslak PG, Vonderheide RH, Wolchok JD, Hensley SE, Wherry EJ, Meyer NJ, DeMichele AM, Vardhana SA, Mamtani R, Huang AC

• CD8 T cells compensate for impaired humoral immunity in COVID-19 patients with hematologic cancer.
  Research square. 2021 Feb 2; Authors: Bange EM, Han NA, Wileyto P, Kim JY, Gouma S, Robinson J, Greenplate AR, Porterfield F, Owoyemi O, Naik K, Zheng C, Galantino M, Weisman AR, Ittner CAG, Kugler EM, Baxter AE, Oniyide O, Agyekum RS, Dunn TG, Jones TK, Giannini HM, Weirick ME, McAllister CM, Babady NE, Kumar A, Widman AJ, DeWolf S, Boutemine SR, Roberts C, Budzik KR, Tollett S, Wright C, Perloff T, Sun L, Mathew D, Giles JR, Oldridge DA, Wu JE, Alanio C, Adamski S, Garfall AL, Vella L, Kerr SJ, Cohen JV, Oyer RA, Massa R, Maillard IP, UPenn COVID Processing Unit, Maxwell KN, Reilly JP, Maslak PG, Vonderheide RH, Wolchok JD, Hensley SE, Wherry EJ, Meyer N, DeMichele AM, Vardhana SA, Mamtani R, Huang AC

• Rates of COVID-19-Related Outcomes in Cancer Compared With Noncancer Patients.
  JNCI cancer spectrum. 2021 Feb;5(1):Pkaa120 Epub 2021 Jan 21; Authors: Sun L, Surya S, Le AN, Desai H, Doucette A, Gabriel P, Ritchie MD, Rader D, Maillard I, Bange E, Huang AC, Vonderheide RH, DeMichele A, Verma A, Mamtani R, Maxwell KN

• SARS-CoV-2 seropositivity and seroconversion in patients undergoing active cancer-directed therapy.
  medRxiv : the preprint server for health sciences. 2021 Jan 16; Authors: 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

• Upper Gastrointestinal Cancer Risk and Surveillance Outcomes in Li-Fraumeni Syndrome.
  The American journal of gastroenterology. 2020 Dec;115(12):2095-2097; Authors: Katona BW, Powers J, McKenna DB, Long JM, Le AN, Hausler R, Zelley K, Jennings S, Domchek SM, Nathanson KL, MacFarland SP, Maxwell KN

• The relationship between circulating lipids and breast cancer risk: A Mendelian randomization study.
  PLoS medicine. 2020 Sep;17(9):e1003302 Epub 2020 Sep 11; Authors: Johnson KE, Siewert KM, Klarin D, Damrauer SM, VA Million Veteran Program, Chang KM, Tsao PS, Assimes TL, Maxwell KN, Voight BF

• Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.
  Human mutation. 2020 Sep;41(9):1555-1562 Epub 2020 Jun 12; Authors: 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

• A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers.
  Cancer research. 2020 Sep 1;80(17):3732-3744 Epub 2020 Jul 16; Authors: 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

• Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary Cancers.
  JCO precision oncology. 2020;4 Epub 2020 Aug 19; Authors: Maxwell KN, Wenz BM, Kulkarni A, Wubbenhorst B, D'Andrea K, Weathers B, Goodman N, Vijai J, Lilyquist J, Hart SN, Slavin TP, Schrader KA, Ravichandran V, Thomas T, Hu C, Robson ME, Peterlongo P, Bonanni B, Ford JM, Garber JE, Neuhausen SL, Shah PD, Bradbury AR, DeMichele AM, Offit K, Weitzel JN, Couch FJ, Domchek SM, Nathanson KL

• Rates of COVID-19-related Outcomes in Cancer compared to non-Cancer Patients.
  medRxiv : the preprint server for health sciences. 2020 Aug 15; Authors: Sun L, Surya S, Le AN, Desai H, Doucette A, Gabriel P, Ritchie M, Rader D, Maillard I, Bange E, Huang A, Vonderheide RH, DeMichele A, Verma A, Mamtani R, Maxwell KN

• Genomic landscape of metastatic breast cancer identifies preferentially dysregulated pathways and targets.
  The Journal of clinical investigation. 2020 Aug 3;130(8):4252-4265; Authors: Paul MR, Pan TC, Pant DK, Shih NN, Chen Y, Harvey KL, Solomon A, Lieberman D, Morrissette JJ, Soucier-Ernst D, Goodman NG, Stavropoulos SW, Maxwell KN, Clark C, Belka GK, Feldman M, DeMichele A, Chodosh LA

• XAF1 as a modifier of p53 function and cancer susceptibility.
  Science advances. 2020 Jun;6(26):eaba3231 Epub 2020 Jun 24; Authors: 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

• Positron Emission Tomography Imaging of Poly-(Adenosine Diphosphate-Ribose) Polymerase 1 Expression in Breast Cancer: A Nonrandomized Clinical Trial.
  JAMA oncology. 2020 Jun 1;6(6):921-923; Authors: McDonald ES, Doot RK, Pantel AR, Farwell MD, Mach RH, Maxwell KN, Mankoff DA

• Frequency of radiation-induced malignancies post-adjuvant radiotherapy for breast cancer in patients with Li-Fraumeni syndrome.
  Breast cancer research and treatment. 2020 May;181(1):181-188 Epub 2020 Apr 3; Authors: 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

• Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.
  NPJ precision oncology. 2020;4:4 Epub 2020 Feb 24; Authors: Landrith T, Li B, Cass AA, Conner BR, LaDuca H, McKenna DB, Maxwell KN, Domchek S, Morman NA, Heinlen C, Wham D, Koptiuch C, Vagher J, Rivera R, Bunnell A, Patel G, Geurts JL, Depas MM, Gaonkar S, Pirzadeh-Miller S, Krukenberg R, Seidel M, Pilarski R, Farmer M, Pyrtel K, Milliron K, Lee J, Hoodfar E, Nathan D, Ganzak AC, Wu S, Vuong H, Xu D, Arulmoli A, Parra M, Hoang L, Molparia B, Fennessy M, Fox S, Charpentier S, Burdette J, Pesaran T, Profato J, Smith B, Haynes G, Dalton E, Crandall JR, Baxter R, Lu HM, Tippin-Davis B, Elliott A, Chao E, Karam R

• Research participants' experiences with return of genetic research results and preferences for web-based alternatives.
  Molecular genetics & genomic medicine. 2019 Sep;7(9):e898 Epub 2019 Aug 3; Authors: 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

• Genomic Signatures Predict the Immunogenicity of BRCA-Deficient Breast Cancer.
  Clinical cancer research : an official journal of the American Association for Cancer Research. 2019 Jul 15;25(14):4363-4374 Epub 2019 Mar 26; Authors: Kraya AA, Maxwell KN, Wubbenhorst B, Wenz BM, Pluta J, Rech AJ, Dorfman LM, Lunceford N, Barrett A, Mitra N, Morrissette JJD, Feldman M, Nayak A, Domchek SM, Vonderheide RH, Nathanson KL

• Reply.
  Gastroenterology. 2019 Jul;157(1):264-265 Epub 2019 May 28; Authors: MacFarland SP, Katona BW, Maxwell KN

• Earlier Colorectal Cancer Screening May Be Necessary In Patients With Li-Fraumeni Syndrome.
  Gastroenterology. 2019 Jan;156(1):273-274 Epub 2018 Sep 19; Authors: MacFarland SP, Zelley K, Long JM, McKenna D, Mamula P, Domchek SM, Nathanson KL, Brodeur GM, Rustgi AK, Katona BW, Maxwell KN

• Identification and Confirmation of Potentially Actionable Germline Mutations in Tumor-Only Genomic Sequencing.
  JCO precision oncology. 2019;3 Epub 2019 Aug 19; Authors: Clark DF, Maxwell KN, Powers J, Lieberman DB, Ebrahimzadeh J, Long JM, McKenna D, Shah P, Bradbury A, Morrissette JJD, Nathanson KL, Domchek SM

• Rac1 Nanoscale Organization on the Plasma Membrane Is Driven by Lipid Binding Specificity Encoded in the Membrane Anchor.
  Molecular and cellular biology. 2018 Sep 15;38(18) Epub 2018 Aug 28; Authors: Maxwell KN, Zhou Y, Hancock JF

• The differential diagnosis of a TP53 genetic testing result.
  Genetics in medicine : official journal of the American College of Medical Genetics. 2018 Aug;20(8):806-808 Epub 2018 Jan 11; Authors: MacFarland SP, Maxwell KN

• Clustering of Rac1: Selective Lipid Sorting Drives Signaling.
  Trends in biochemical sciences. 2018 Feb;43(2):75-77 Epub 2017 Nov 30; Authors: Maxwell KN, Zhou Y, Hancock JF

• Electronic Health Record Phenotypes for Precision Medicine: Perspectives and Caveats From Treatment of Breast Cancer at a Single Institution.
  Clinical and translational science. 2018 Jan;11(1):85-92; Authors: Breitenstein MK, Liu H, Maxwell KN, Pathak J, Zhang R

• Returning Individual Genetic Research Results to Research Participants: Uptake and Outcomes Among Patients With Breast Cancer.
  JCO precision oncology. 2018;2 Epub 2018 Apr 16; Authors: Bradbury AR, Patrick-Miller L, Egleston BL, Maxwell KN, DiGiovanni L, Brower J, Fetzer D, Bennett Gaieski J, Brandt A, McKenna D, Long J, Powers J, Stopfer JE, Nathanson KL, Domchek SM

• Erratum: Author Correction: The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk.
  NPJ breast cancer. 2017;3:44 Epub 2017 Nov 7; Authors: Slavin TP, Maxwell KN, Lilyquist J, Vijai J, Neuhausen SL, Hart SN, Ravichandran V, Thomas T, Maria A, Villano D, Schrader KA, Moore R, Hu C, Wubbenhorst B, Wenz BM, D'Andrea K, Robson ME, Peterlongo P, Bonanni B, Ford JM, Garber JE, Domchek SM, Szabo C, Offit K, Nathanson KL, Weitzel JN, Couch FJ

• BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers.
  Nature communications. 2017 Aug 22;8(1):319; Authors: Maxwell KN, Wubbenhorst B, Wenz BM, De Sloover D, Pluta J, Emery L, Barrett A, Kraya AA, Anastopoulos IN, Yu S, Jiang Y, Chen H, Zhang NR, Hackman N, D'Andrea K, Daber R, Morrissette JJD, Mitra N, Feldman M, Domchek SM, Nathanson KL

• Comparative clinical utility of tumor genomic testing and cell-free DNA in metastatic breast cancer.
  Breast cancer research and treatment. 2017 Aug;164(3):627-638 Epub 2017 May 12; Authors: Maxwell KN, Soucier-Ernst D, Tahirovic E, Troxel AB, Clark C, Feldman M, Colameco C, Kakrecha B, Langer M, Lieberman D, Morrissette JJD, Paul MR, Pan TC, Yee S, Shih N, Carpenter E, Chodosh LA, DeMichele A

• Erratum to: Comparative clinical utility of tumor genomic testing and cell-free DNA in metastatic breast cancer.
  Breast cancer research and treatment. 2017 Aug;164(3):639-640; Authors: Maxwell KN, Soucier-Ernst D, Tahirovic E, Troxel AB, Clark C, Feldman M, Colameco C, Kakrecha B, Langer M, Lieberman D, Morrissette JJD, Paul MR, Pan TC, Yee S, Shih N, Carpenter E, Chodosh LA, DeMichele A

• The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk.
  NPJ breast cancer. 2017;3:22 Epub 2017 Jun 9; Authors: Slavin TP, Maxwell KN, Lilyquist J, Vijai J, Neuhausen SL, Hart SN, Ravichandran V, Thomas T, Maria A, Villano D, Schrader KA, Moore R, Hu C, Wubbenhorst B, Wenz BM, D'Andrea K, Robson ME, Peterlongo P, Bonanni B, Ford JM, Garber JE, Domchek SM, Szabo C, Offit K, Nathanson KL, Weitzel JN, Couch FJ

• ALLELE-SPECIFIC COPY NUMBER ESTIMATION BY WHOLE EXOME SEQUENCING.
  The annals of applied statistics. 2017 Jun;11(2):1169-1192 Epub 2017 Jul 20; Authors: Chen H, Jiang Y, Maxwell KN, Nathanson KL, Zhang N

• Population Frequency of Germline BRCA1/2 Mutations.
  Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2016 Dec;34(34):4183-4185 Epub 2016 Oct 31; Authors: Maxwell KN, Domchek SM, Nathanson KL, Robson ME

• A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer.
  Cancer discovery. 2016 Nov;6(11):1267-1275 Epub 2016 Sep 21; Authors: 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

• Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.
  Oncotarget. 2016 Jul 26;7(30):48577-48585; Authors: Jean S, Li J, Katsaros D, Wubbenhorst B, Maxwell KN, Fishbein L, McLane MW, Benedetto C, Canuto EM, Mitra N, Zhang L, Nathanson KL, Tanyi JL

• Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes.
  Briefings in bioinformatics. 2016 Jul;17(4):672-7 Epub 2015 Sep 10; Authors: Hart SN, Maxwell KN, Thomas T, Ravichandran V, Wubberhorst B, Klein RJ, Schrader K, Szabo C, Weitzel JN, Neuhausen SL, Nathanson K, Offit K, Couch FJ, Vijai J

• Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
  American journal of human genetics. 2016 May 5;98(5):801-817; Authors: Maxwell KN, Hart SN, Vijai J, Schrader KA, Slavin TP, Thomas T, Wubbenhorst B, Ravichandran V, Moore RM, Hu C, Guidugli L, Wenz B, Domchek SM, Robson ME, Szabo C, Neuhausen SL, Weitzel JN, Offit K, Couch FJ, Nathanson KL

• Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing.
  Genetics in medicine : official journal of the American College of Medical Genetics. 2016 Jan;18(1):25-33 Epub 2015 Apr 2; Authors: Bradbury AR, Patrick-Miller LJ, Egleston BL, DiGiovanni L, Brower J, Harris D, Stevens EM, Maxwell KN, Kulkarni A, Chavez T, Brandt A, Long JM, Powers J, Stopfer JE, Nathanson KL, Domchek SM

• Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.
  Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Aug;17(8):630-8 Epub 2014 Dec 11; Authors: 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

• Common breast cancer risk variants in the post-COGS era: a comprehensive review.
  Breast cancer research : BCR. 2013 Dec 20;15(6):212; Authors: Maxwell KN, Nathanson KL

• Bile acids modulate signaling by functional perturbation of plasma membrane domains.
  The Journal of biological chemistry. 2013 Dec 13;288(50):35660-70 Epub 2013 Oct 28; Authors: Zhou Y, Maxwell KN, Sezgin E, Lu M, Liang H, Hancock JF, Dial EJ, Lichtenberger LM, Levental I

• A classic presentation of an uncommon leukemia.
  American journal of hematology. 2013 May;88(5):431-2 Epub 2012 Sep 17; Authors: Maxwell KN, Porter DL

• Cancer treatment according to BRCA1 and BRCA2 mutations.
  Nature reviews. Clinical oncology. 2012 Sep;9(9):520-8 Epub 2012 Jul 24; Authors: Maxwell KN, Domchek SM

• Antibodies to PCSK9: a superior way to lower LDL cholesterol?
  Circulation research. 2012 Jul 20;111(3):274-7; Authors: Maxwell KN, Breslow JL

• The incidence of both serious and minor complications in young women undergoing oocyte donation.
  Fertility and sterility. 2008 Dec;90(6):2165-71 Epub 2008 Feb 4; Authors: Maxwell KN, Cholst IN, Rosenwaks Z

• Differential gene regulation of StarD4 and StarD5 cholesterol transfer proteins. Activation of StarD4 by sterol regulatory element-binding protein-2 and StarD5 by endoplasmic reticulum stress.
  The Journal of biological chemistry. 2005 May 13;280(19):19410-8 Epub 2005 Mar 10; Authors: Soccio RE, Adams RM, Maxwell KN, Breslow JL

• Proprotein convertase subtilisin kexin 9: the third locus implicated in autosomal dominant hypercholesterolemia.
  Current opinion in lipidology. 2005 Apr;16(2):167-72; Authors: Maxwell KN, Breslow JL

• Overexpression of PCSK9 accelerates the degradation of the LDLR in a post-endoplasmic reticulum compartment.
  Proceedings of the National Academy of Sciences of the United States of America. 2005 Feb 8;102(6):2069-74 Epub 2005 Jan 27; Authors: Maxwell KN, Fisher EA, Breslow JL

• Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype.
  Proceedings of the National Academy of Sciences of the United States of America. 2004 May 4;101(18):7100-5 Epub 2004 Apr 26; Authors: Maxwell KN, Breslow JL

• Novel putative SREBP and LXR target genes identified by microarray analysis in liver of cholesterol-fed mice.
  Journal of lipid research. 2003 Nov;44(11):2109-19 Epub 2003 Aug 1; Authors: Maxwell KN, Soccio RE, Duncan EM, Sehayek E, Breslow JL

• The spd-2 gene is required for polarization of the anteroposterior axis and formation of the sperm asters in the Caenorhabditis elegans zygote.
  Developmental biology. 2000 Jun 1;222(1):55-70; Authors: O'Connell KF, Maxwell KN, White JG

• ABO blood groups and hypertension.
  British medical journal. 1955 Jul 16;2(4932):179-80; Authors: MAXWELL RD, MAXWELL KN