Research Summary

I am a professor of medicine at UCSF, and I focus my research on human genetics of cancer susceptibility and hematological traits. My research synthesizes concepts and data from human population genetics and epidemiology. A particular focus is on the genetics of admixed populations such as Latinos and African Americans. My research group was the first to demonstrate that breast cancer risk is associated with ancestry among Latina women; in particular, we showed that Native American genetic ancestry among Latina women was associated with protection from breast cancer. Subsequently, I led the group that mapped this difference to a locus on chromosome 6q25, and then performed fine mapping and found a single nucleotide polymorphism (SNP) that explains a large fraction of this risk difference. I have also recently led a group to identify a set of SNP’s associated with survival among multiple myeloma patients.

Research Funding

  • August 15, 2023 - May 31, 2027 - Evaluating the clinical implications for ACKR1/DARC associated neutropenia , Principal Investigator . Sponsor: NIH, Sponsor Award ID: R01HL170627
  • August 1, 2024 - July 31, 2026 - Race and ancestry as predictors of the tumor immune microenvironment and response to immunotherapy , Principal Investigator . Sponsor: NIH, Sponsor Award ID: P20CA290477
  • December 1, 2004 - June 30, 2025 - Training in the Molecular & Genetic Epidemiology of Cancer , Co-Principal Investigator . Sponsor: NIH, Sponsor Award ID: T32CA112355
  • July 1, 2018 - June 30, 2024 - (8) Genetics of Immune Related Adverse Events and Response to Immunotherapy , Principal Investigator . Sponsor: NIH, Sponsor Award ID: R01CA227466
  • August 9, 2012 - July 31, 2022 - Genetics of mammographic density and breast cancer risk in Latinas , Principal Investigator . Sponsor: NIH, Sponsor Award ID: K24CA169004
  • September 8, 2014 - August 31, 2020 - Germline and Tumor Genomic Analyses of Breast Cancer in Latinas , Co-Principal Investigator . Sponsor: NIH, Sponsor Award ID: R01CA184585
  • December 15, 2014 - November 30, 2017 - Influence of germ line genetic variation on myeloma progression and survival , Principal Investigator . Sponsor: NIH, Sponsor Award ID: R21CA191896
  • September 15, 2013 - August 31, 2016 - Genetics of Mammographic Density in Ashkenazi Jews , Principal Investigator . Sponsor: NIH, Sponsor Award ID: R21CA179442
  • August 7, 2007 - May 31, 2014 - Admixture Mapping for Breast Cancer in Latinas , Principal Investigator . Sponsor: NIH, Sponsor Award ID: R01CA120120
  • August 20, 2004 - July 31, 2007 - Breast Cancer, Breast Density &Admixture Among Latinas , Principal Investigator . Sponsor: NIH, Sponsor Award ID: K22CA109351

Education

Yale University, New Haven, CT, BS, 1991, Magna cum Lauda, Biology
University of California, San Francisco, CA, MD, 1996, Medicine
University of California, San Francisco, CA, Intern, 1996-1997, Medicine
University of California, San Francisco, CA, Resident, 1997-1999, Medicine
University of California, San Francisco, CA, 1999-2001, Fellow, General Internal Medicine and Clinical Epidemiology

Honors & Awards

  • 1988-1991
    IBM Thomas J. Watson Scholarship
  • 1991
    Distinction in Biology, Yale University
  • 1991
    Magna cum Laude, Yale University
  • 2001-2003
    UCSF Women's Health Research Scholar
  • 2002-2004
    Clinical Research Training Grant Award, American Cancer Society
  • 2003
    Best Breast Cancer Clinical Investigation, UCSF Breast Oncology Program Retreat
  • 2004-2007
    National Cancer Institute Career Transition Award
  • 2005
    Robert Crede Award for Clinical Research, UCSF Division of General Internal Medicine
  • 2012-2017
    National Cancer Mid-Career Investigator Award for Patient Oriented Research

Selected Publications

  1. Baojun Wu, Mao Yang, Donglei Hu, Ray Zhang, Bin Liu, Samantha Hochstadt, David E. Lanfear, Jonathan Witonsky, Rajesh Kumar, Jill A. Hollenbach, Esteban G. Burchard, Elad Ziv, L. Keoki Williams. HLA variation associated with peanut allergy and anaphylaxis among non-Hispanic Black individuals. Journal of Allergy and Clinical Immunology Global. 2025 Aug 1; 4(3):100485.  View on PubMed
  2. Jonathan I. Witonsky, Jennifer R. Elhawary, Celeste Eng, Sam S. Oh, Sandra Salazar, Maria G. Contreras, Vivian Medina, Elizabeth A. Secor, Priscilla Zhang, Jamie L. Everman, Ana Fairbanks-Mahnke, Elmar Pruesse, Satria P. Sajuthi, Chih-Hao Chang, Tsunami Rosado Guerrero, Keyshla Canales Fuentes, Natalie Lopez, Chris Angely Montañez-López, Emily Vazquez Morales, Nicole Vazquez Morales, Richeliz Alfonso Otero, Raymarie Colon Rivera, Leysha Rodriguez, Gabriela Vazquez, Donglei Hu, Scott Huntsman, Nathan D. Jackson, Yingchun Li, Andrew Morin, Natalie A. Nieves, Cydney Rios, Gonzalo Serrano, Blake J.M. Williams, Elad Ziv, Camille M. Moore, Dean Sheppard, Esteban González Burchard, Max A. Seibold, Jose R. Rodríguez-Santana. The PRIMERO birth cohort: Design and baseline characteristics. Journal of Allergy and Clinical Immunology Global. 2025 Aug 1; 4(3):100470.  View on PubMed
  3. James L. Li, Maria Zanti, Jacob Williams, Om Jahagirdar, Guochong Jia, Qiang Hu, Jean-Tristan Brandenburg, Li Yan, Weang-Kee Ho, Jingmei Li, José P. Miranda, Devika Godbole, Julie-Alexia Dias, Leila Dorling, Wenlong C. Chen, Nicholas Boddicker, Ying Wang, Alicia Martin, Martin J. Zhang, Yan Zhang, Joe Dennis, Esther M. John, Gabriela Torres-Mejia, Larry Kushi, Jeffrey Weitzel, Susan L. Neuhausen, Luis Carvajal-Carmona, Christopher Haiman, Elad Ziv, Laura Fejerman, Wei Zheng, Dezheng Huo, Douglas Easton, Nilanjan Chatterjee, Peter Kraft, Montserrat Garcia-Closas, Wendy Wong, Kyriaki Michailidou, Qianqian Zhu, Diptavo Dutta, Thomas U. Ahearn, Haoyu Zhang. Abstract 2282: Genetic architecture of breast cancer across diverse populations: Assessing heritability, genetic correlation, and polygenicity. Cancer Research. 2025 Apr 21; 85(8_Supplement_1):2282-2282.  View on PubMed
  4. Middha P, Thummalapalli R, Quandt Z, Balaratnam K, Cardenas E, Falcon CJ, Margaret Lung Group P, Gubens MA, Huntsman S, Khan K, Li M, Lovly CM, Patel D, Zhan LJ, Liu G, Aldrich MC, Schoenfeld A, Ziv E. Germline prediction of immune checkpoint inhibitor discontinuation for immune-related adverse events. J Immunother Cancer. 2025 Mar 28; 13(3).  View on PubMed
  5. Rosalyn W Sayaman, Denise M Wolf, Christina Yau, Vesteinn Thorsson, Mohamad Saad, Donglei Hu, Scott Huntsman, Davide Bedognetti, Michael J Campbell, Jennifer Rosenbluth, Elad Ziv. Abstract B042: Differential prevalence of immune-associated germline variants across genetic ancestry groups may partially underlie racial and ethnic disparities in breast cancer outcomes. Cancer Research. 2025 Mar 11; 85(5_Supplement):b042-b042.  View on PubMed
  6. Orchard P, Blackwell TW, Kachuri L, Castaldi PJ, Cho MH, Christenson SA, Durda P, Gabriel S, Hersh CP, Huntsman S, Hwang S, Joehanes R, Johnson M, Li X, Lin H, Liu CT, Liu Y, Mak ACY, Manichaikul AW, Paik D, Saferali A, Smith JD, Taylor KD, Tracy RP, Wang J, Wang M, Weinstock JS, Weiss J, Wheeler HE, Zhou Y, Zoellner S, Wu JC, Mestroni L, Graw S, Taylor MRG, Ortega VE, Johnson CW, Gan W, Abecasis G, Nickerson DA, Gupta N, Ardlie K, Woodruff PG, Zheng Y, Bowler RP, Meyers DA, Reiner A, Kooperberg C, Ziv E, Ramachandran VS, Larson MG, Cupples LA, Burchard EG, Silverman EK, Rich SS, Heard-Costa N, Tang H, Rotter JI, Smith AV, Levy D, NHLBI TOPMed Consortium Multi-Omics Working Group, NHLBI TOPMed Consortium, Aguet F, Scott L, Raffield LM, Parker SCJ. Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed. medRxiv. 2025 Feb 21.  View on PubMed
  7. Huang X, Lott PC, Hu D, Zavala VA, Jamal ZN, Vidaurre T, Casavilca-Zambrano S, Navarro Vásquez J, Castañeda CA, Valencia G, Morante Z, Calderón M, Abugattas JE, Fuentes HA, Liendo-Picoaga R, Cotrina JM, Neciosup SP, Rioja Viera P, Salinas LA, Galvez-Nino M, Huntsman S, Sanchez SE, Williams MA, Gelaye B, Estrada-Florez AP, Polanco-Echeverry G, Echeverry M, Velez A, Carmona-Valencia JA, Bohorquez-Lozano ME, Torres J, Cruz M, Ho WK, Teo SH, Tai MC, John EM, Haiman CA, Conti DV, Chen F, Torres-Mejía G, Kushi LH, Neuhausen SL, Ziv E, Carvajal-Carmona LG, COLUMBUS Consortium, Fejerman L. Evaluation of Multiple Breast Cancer Polygenic Risk Score Panels in Women of Latin American Heritage. Cancer Epidemiol Biomarkers Prev. 2025 Feb 06; 34(2):234-245.  View on PubMed
  8. Middha P, Kachuri L, Nierenberg JL, Graff RE, Cavazos TB, Hoffmann TJ, Zhang J, Alexeeff S, Habel L, Corley DA, Van Den Eeden S, Kushi LH, Ziv E, Sakoda LC, Witte JS. Unraveling the genetic landscape of susceptibility to multiple primary cancers. HGG Adv. 2025 Apr 10; 6(2):100413.  View on PubMed
  9. Cesano A, Augustin R, Barrea L, Bedognetti D, Bruno TC, Carturan A, Hammer C, Ho WS, Kather JN, Kirchhoff T, Lu RO, McQuade J, Najjar YG, Pietrobon V, Ruella M, Shen R, Soldati L, Spencer C, Betof Warner A, Warren S, Ziv E, Marincola FM. Advances in the understanding and therapeutic manipulation of cancer immune responsiveness: a Society for Immunotherapy of Cancer (SITC) review. J Immunother Cancer. 2025 Jan 16; 13(1).  View on PubMed
  10. Giaccherini M, Clay-Gilmour AI, Liotti R, Macauda A, Gentiluomo M, Brown EE, Machiela MJ, Chanock SJ, Hildebrandt MAT, Norman AD, Manasanch E, Rajkumar SV, Hofmann JN, Berndt SI, Bhatti P, Giles GG, Ziv E, Kumar SK, Camp NJ, Cozen W, Slager SL, Canzian F, Gemignani F, Vachon CM, Campa D. Genetically determined telomere length in monoclonal gammopathy of undetermined significance, multiple myeloma risk and outcome. Blood Cancer J. 2024 Nov 11; 14(1):200.  View on PubMed
  11. Middha P, Kachuri L, Nierenberg JL, Graff RE, Cavazos TB, Hoffmann TJ, Zhang J, Alexeeff S, Habel L, Corley DA, Van Den Eeden S, Kushi LH, Ziv E, Sakoda LC, Witte JS. Unraveling the genetic landscape of susceptibility to multiple primary cancers. medRxiv. 2024 Oct 30.  View on PubMed
  12. Gorla A, Witonsky J, Elhawary JR, Chen ZJ, Mefford J, Perez-Garcia J, Huntsman S, Hu D, Eng C, Woodruff PG, Sankararaman S, Ziv E, Flint J, Zaitlen N, Burchard E, Rahmani E. Epigenetic patient stratification via contrastive machine learning refines hallmark biomarkers in minoritized children with asthma. Res Sq. 2024 Sep 13.  View on PubMed
  13. Tjader NP, Beer AJ, Ramroop J, Tai MC, Ping J, Gandhi T, Dauch C, Neuhausen SL, Ziv E, Sotelo N, Ghanekar S, Meadows O, Paredes M, Gillespie JL, Aeilts AM, Hampel H, Zheng W, Jia G, Hu Q, Wei L, Liu S, Ambrosone CB, Palmer JR, Carpten JD, Yao S, Stevens P, Ho WK, Pan JW, Fadda P, Huo D, Teo SH, McElroy JP, Toland AE. Association of ESR1 Germline Variants with TP53 Somatic Variants in Breast Tumors in a Genome-wide Study. Cancer Res Commun. 2024 06 27; 4(6):1597-1608.  View on PubMed
  14. Middha P, Thummalapalli R, Quandt Z, Balaratnam K, Cardenas E, Falcon CJ, Princess Margaret Lung Group, Gubens MA, Huntsman S, Khan K, Li M, Lovly CM, Patel D, Zhan LJ, Liu G, Aldrich MC, Schoenfeld AJ, Ziv E. Germline prediction of immune checkpoint inhibitor discontinuation for immune-related adverse events. medRxiv. 2024 Jun 11.  View on PubMed
  15. Zoe Quandt, Christian Thorball, Pooja Middha, Douglas Buckner Johnson, Cosmin A Bejan, Lydia Yao, Yaomin Xu, Flavia Hodel, Athina Stravodimou, Esther Shearer-Kang, Geoffrey Liu, Melinda C Aldrich, Adam Jacob Schoenfeld, Elad Ziv, Elizabeth J Phillips, Jacques Fellay, Ewa A Bergmann, G Scott Chandler, Justin M Balko, Ashis Saha. HLA associations with immunotherapy related endocrine toxicity. Journal of Clinical Oncology. 2024 Jun 1; 42(16_suppl):2516-2516.  View on PubMed
  16. Keener R, Chhetri SB, Connelly CJ, Taub MA, Conomos MP, Weinstock J, Ni B, Strober B, Aslibekyan S, Auer PL, Barwick L, Becker LC, Blangero J, Bleecker ER, Brody JA, Cade BE, Celedon JC, Chang YC, Cupples LA, Custer B, Freedman BI, Gladwin MT, Heckbert SR, Hou L, Irvin MR, Isasi CR, Johnsen JM, Kenny EE, Kooperberg C, Minster RL, Naseri T, Viali S, Nekhai S, Pankratz N, Peyser PA, Taylor KD, Telen MJ, Wu B, Yanek LR, Yang IV, Albert C, Arnett DK, Ashley-Koch AE, Barnes KC, Bis JC, Blackwell TW, Boerwinkle E, Burchard EG, Carson AP, Chen Z, Chen YI, Darbar D, de Andrade M, Ellinor PT, Fornage M, Gelb BD, Gilliland FD, He J, Islam T, Kaab S, Kardia SLR, Kelly S, Konkle BA, Kumar R, Loos RJF, Martinez FD, McGarvey ST, Meyers DA, Mitchell BD, Montgomery CG, North KE, Palmer ND, Peralta JM, Raby BA, Redline S, Rich SS, Roden D, Rotter JI, Ruczinski I, Schwartz D, Sciurba F, Shoemaker MB, Silverman EK, Sinner MF, Smith NL, Smith AV, Tiwari HK, Vasan RS, Weiss ST, Williams LK, Zhang Y, Ziv E, Raffield LM, Reiner AP, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Hematology and Hemostasis Working Group, TOPMed Structural Variation Working Group, Arvanitis M, Greider CW, Mathias RA, Battle A. Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes. Nat Commun. 2024 May 24; 15(1):4417.  View on PubMed
  17. Witonsky JI, Elhawary JR, Eng C, Oh SS, Salazar S, Contreras MG, Medina V, Secor EA, Zhang P, Everman JL, Fairbanks-Mahnke A, Pruesse E, Sajuthi SP, Chang CH, Guerrero TR, Fuentes KC, Lopez N, Montanez-Lopez CA, Otero RA, Rivera RC, Rodriguez L, Vazquez G, Hu D, Huntsman S, Jackson ND, Li Y, Morin A, Nieves NA, Rios C, Serrano G, Williams BJM, Ziv E, Moore CM, Sheppard D, Burchard EG, Seibold MA, Rodriguez Santana JR. The Puerto Rican Infant Metagenomic and Epidemiologic Study of Respiratory Outcomes (PRIMERO): Design and Baseline Characteristics for a Birth Cohort Study of Early-life Viral Respiratory Illnesses and Airway Dysfunction in Puerto Rican Children. medRxiv. 2024 Apr 16.  View on PubMed
  18. de Smith AJ, Wahlster L, Jeon S, Kachuri L, Black S, Langie J, Cato LD, Nakatsuka N, Chan TF, Xia G, Mazumder S, Yang W, Gazal S, Eng C, Hu D, Burchard EG, Ziv E, Metayer C, Mancuso N, Yang JJ, Ma X, Wiemels JL, Yu F, Chiang CWK, Sankaran VG. A noncoding regulatory variant in IKZF1 increases acute lymphoblastic leukemia risk in Hispanic/Latino children. Cell Genom. 2024 Apr 10; 4(4):100526.  View on PubMed
  19. Middha P, Thummalapalli R, Betti MJ, Yao L, Quandt Z, Balaratnam K, Bejan CA, Cardenas E, Falcon CJ, Faleck DM, Princess Margaret Lung Group, Gubens MA, Huntsman S, Johnson DB, Kachuri L, Khan K, Li M, Lovly CM, Murray MH, Patel D, Werking K, Xu Y, Zhan LJ, Balko JM, Liu G, Aldrich MC, Schoenfeld AJ, Ziv E. Polygenic risk score for ulcerative colitis predicts immune checkpoint inhibitor-mediated colitis. Nat Commun. 2024 Mar 26; 15(1):2568.  View on PubMed
  20. Pooja Middha, Rohit Thummalapalli, Zoe Quandt, Princess Margaret Lung Group, Matthew A. Gubens, Christine M. Lovly, Geoffrey Liu, Melinda C. Aldrich, Adam J. Schoenfeld, Elad Ziv. Abstract 3460: Predicting cessation of immune checkpoint inhibitor therapy due to severe adverse events with an integrated autoimmune disease polygenic risk score. Cancer Research. 2024 Mar 22; 84(6_Supplement):3460-3460.  View on PubMed

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