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

  • 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. Perez F, Hernandez M, Martinez A, Castaneda P, Ponce R, Gonzalez M, Martinez C, Perez A, Quino JE, Robles Garibay E, Zavala VA, Huang X, Neuhausen SL, Ziv E, Carvajal-Carmona L, Duron Y, Fejerman L. Promotores' perspectives on the virtual adaptation of a hereditary breast cancer education program. J Genet Couns. 2023 Sep 25.  View on PubMed
  2. Macauda A, Briem K, Clay-Gilmour A, Cozen W, Försti A, Giaccherini M, Corradi C, Sainz J, Niazi Y, Ter Horst R, Li Y, Netea MG, Vogel U, Hemminki K, Slager SL, Varkonyi J, Andersen V, Iskierka-Jazdzewska E, Mártinez-Lopez J, Zaucha J, Camp NJ, Rajkumar SV, Druzd-Sitek A, Bhatti P, Chanock SJ, Kumar SK, Subocz E, Mazur G, Landi S, Machiela MJ, Jerez A, Norman AD, Hildebrandt MAT, Kadar K, Berndt SI, Ziv E, Buda G, Nagler A, Dumontet C, Razny M, Watek M, Butrym A, Grzasko N, Dudzinski M, Rybicka-Ramos M, Matera EL, García-Sanz R, Goldschmidt H, Jamroziak K, Jurczyszyn A, Clavero E, Giles GG, Pelosini M, Zawirska D, Kruszewski M, Marques H, Haastrup E, Sánchez-Maldonado JM, Bertsch U, Rymko M, Raab MS, Brown EE, Hofmann JN, Vachon C, Campa D, Canzian F. Identification of novel genetic loci for risk of multiple myeloma by functional annotation. Leukemia. 2023 Sep 18.  View on PubMed
  3. Berndt SI, Vijai J, Benavente Y, Camp NJ, Nieters A, Wang Z, Smedby KE, Kleinstern G, Hjalgrim H, Besson C, Skibola CF, Morton LM, Brooks-Wilson AR, Teras LR, Breeze C, Arias J, Adami HO, Albanes D, Anderson KC, Ansell SM, Bassig B, Becker N, Bhatti P, Birmann BM, Boffetta P, Bracci PM, Brennan P, Brown EE, Burdett L, Cannon-Albright LA, Chang ET, Chiu BCH, Chung CC, Clavel J, Cocco P, Colditz G, Conde L, Conti DV, Cox DG, Curtin K, Casabonne D, De Vivo I, Diepstra A, Diver WR, Dogan A, Edlund CK, Foretova L, Fraumeni JF, Gabbas A, Ghesquières H, Giles GG, Glaser S, Glenn M, Glimelius B, Gu J, Habermann TM, Haiman CA, Haioun C, Hofmann JN, Holford TR, Holly EA, Hutchinson A, Izhar A, Jackson RD, Jarrett RF, Kaaks R, Kane E, Kolonel LN, Kong Y, Kraft P, Kricker A, Lake A, Lan Q, Lawrence C, Li D, Liebow M, Link BK, Magnani C, Maynadie M, McKay J, Melbye M, Miligi L, Milne RL, Molina TJ, Monnereau A, Montalvan R, North KE, Novak AJ, Onel K, Purdue MP, Rand KA, Riboli E, Riby J, Roman E, Salles G, Sborov DW, Severson RK, Shanafelt TD, Smith MT, Smith A, Song KW, Song L, Southey MC, Spinelli JJ, Staines A, Stephens D, Sutherland HJ, Tkachuk K, Thompson CA, Tilly H, Tinker LF, Travis RC, Turner J, Vachon CM, Vajdic CM, Van Den Berg A, Van Den Berg DJ, Vermeulen RCH, Vineis P, Wang SS, Weiderpass E, Weiner GJ, Weinstein S, Doo NW, Ye Y, Yeager M, Yu K, Zeleniuch-Jacquotte A, Zhang Y, Zheng T, Ziv E, Sampson J, Chatterjee N, Offit K, Cozen W, Wu X, Cerhan JR, Chanock SJ, Slager SL, Rothman N. Correction: Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes. Leukemia. 2023 Oct; 37(10):2142.  View on PubMed
  4. Ding YC, Song H, Adamson AW, Schmolze D, Hu D, Huntsman S, Steele L, Patrick CS, Tao S, Hernandez N, Adams CD, Fejerman L, Gardner K, Nápoles AM, Pérez-Stable EJ, Weitzel JN, Bengtsson H, Huang FW, Neuhausen SL, Ziv E. Profiling the Somatic Mutational Landscape of Breast Tumors from Hispanic/Latina Women Reveals Conserved and Unique Characteristics. Cancer Res. 2023 08 01; 83(15):2600-2613.  View on PubMed
  5. Ren X, Yang H, Nierenberg JL, Sun Y, Chen J, Beaman C, Pham T, Nobuhara M, Takagi MA, Narayan V, Li Y, Ziv E, Shen Y. High throughput PRIME editing screens identify functional DNA variants in the human genome. bioRxiv. 2023 Jul 12.  View on PubMed
  6. Kachuri L, Mak ACY, Hu D, Eng C, Huntsman S, Elhawary JR, Gupta N, Gabriel S, Xiao S, Keys KL, Oni-Orisan A, Rodríguez-Santana JR, LeNoir MA, Borrell LN, Zaitlen NA, Williams LK, Gignoux CR, Burchard EG, Ziv E. Gene expression in African Americans, Puerto Ricans and Mexican Americans reveals ancestry-specific patterns of genetic architecture. Nat Genet. 2023 06; 55(6):952-963.  View on PubMed
  7. Roelands J, Kuppen PJK, Ahmed EI, Mall R, Masoodi T, Singh P, Monaco G, Raynaud C, de Miranda NFCC, Ferraro L, Carneiro-Lobo TC, Syed N, Rawat A, Awad A, Decock J, Mifsud W, Miller LD, Sherif S, Mohamed MG, Rinchai D, Van den Eynde M, Sayaman RW, Ziv E, Bertucci F, Petkar MA, Lorenz S, Mathew LS, Wang K, Murugesan S, Chaussabel D, Vahrmeijer AL, Wang E, Ceccarelli A, Fakhro KA, Zoppoli G, Ballestrero A, Tollenaar RAEM, Marincola FM, Galon J, Khodor SA, Ceccarelli M, Hendrickx W, Bedognetti D. An integrated tumor, immune and microbiome atlas of colon cancer. Nat Med. 2023 05; 29(5):1273-1286.  View on PubMed
  8. 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. medRxiv. 2023 Sep 13.  View on PubMed
  9. Shieh Y, Roger J, Yau C, Wolf DM, Hirst GL, Swigart LB, Huntsman S, Hu D, Nierenberg JL, Middha P, Heise RS, Shi Y, Kachuri L, Zhu Q, Yao S, Ambrosone CB, Kwan ML, Caan BJ, Witte JS, Kushi LH, 't Veer LV, Esserman LJ, Ziv E. Development and testing of a polygenic risk score for breast cancer aggressiveness. NPJ Precis Oncol. 2023 May 15; 7(1):42.  View on PubMed
  10. Clavero E, Sanchez-Maldonado JM, Macauda A, Ter Horst R, Sampaio-Marques B, Jurczyszyn A, Clay-Gilmour A, Stein A, Hildebrandt MAT, Weinhold N, Buda G, García-Sanz R, Tomczak W, Vogel U, Jerez A, Zawirska D, Watek M, Hofmann JN, Landi S, Spinelli JJ, Butrym A, Kumar A, Martínez-López J, Galimberti S, Sarasquete ME, Subocz E, Iskierka-Jazdzewska E, Giles GG, Rybicka-Ramos M, Kruszewski M, Abildgaard N, Verdejo FG, Sánchez Rovira P, da Silva Filho MI, Kadar K, Razny M, Cozen W, Pelosini M, Jurado M, Bhatti P, Dudzinski M, Druzd-Sitek A, Orciuolo E, Li Y, Norman AD, Zaucha JM, Reis RM, Markiewicz M, Rodríguez Sevilla JJ, Andersen V, Jamroziak K, Hemminki K, Berndt SI, Rajkumar V, Mazur G, Kumar SK, Ludovico P, Nagler A, Chanock SJ, Dumontet C, Machiela MJ, Varkonyi J, Camp NJ, Ziv E, Vangsted AJ, Brown EE, Campa D, Vachon CM, Netea MG, Canzian F, Försti A, Sainz J. Polymorphisms within Autophagy-Related Genes as Susceptibility Biomarkers for Multiple Myeloma: A Meta-Analysis of Three Large Cohorts and Functional Characterization. Int J Mol Sci. 2023 May 09; 24(10).  View on PubMed
  11. Quandt Z, Kim S, Villanueva-Meyer J, Coupe C, Young A, Kang JH, Yazdany J, Schmajuk G, Rush S, Ziv E, Perdigoto AL, Herold K, Lechner MG, Su MA, Tyrrell JB, Bluestone J, Anderson M, Masharani U. Spectrum of Clinical Presentations, Imaging Findings, and HLA Types in Immune Checkpoint Inhibitor-Induced Hypophysitis. J Endocr Soc. 2023 Feb 09; 7(4):bvad012.  View on PubMed
  12. Nierenberg JL, Adamson AW, Hu D, Huntsman S, Patrick C, Li M, Steele L, Tong B, Shieh Y, Fejerman L, Gruber SB, Haiman CA, John EM, Kushi LH, Torres-Mejía G, Ricker C, Weitzel JN, Ziv E, Neuhausen SL. Whole exome sequencing and replication for breast cancer among Hispanic/Latino women identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer. medRxiv. 2023 Jan 28.  View on PubMed
  13. Mueller SH, Lai AG, Valkovskaya M, Michailidou K, Bolla MK, Wang Q, Dennis J, Lush M, Abu-Ful Z, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Baert T, Freeman LEB, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Brenner H, Brucker SY, Buys SS, Castelao JE, Chan TL, Chang-Claude J, Chanock SJ, Choi JY, Chung WK, NBCS Collaborators, Colonna SV, CTS Consortium, Cornelissen S, Couch FJ, Czene K, Daly MB, Devilee P, Dörk T, Dossus L, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Engel C, Evans DG, Fasching PA, Fletcher O, Flyger H, Gago-Dominguez M, Gao YT, García-Closas M, García-Sáenz JA, Genkinger J, Gentry-Maharaj A, Grassmann F, Guénel P, Gündert M, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Harkness EF, Harrington PA, Hartikainen JM, Hartman M, Hein A, Ho WK, Hooning MJ, Hoppe R, Hopper JL, Houlston RS, Howell A, Hunter DJ, Huo D, ABCTB Investigators, Ito H, Iwasaki M, Jakubowska A, Janni W, John EM, Jones ME, Jung A, Kaaks R, Kang D, Khusnutdinova EK, Kim SW, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Kubelka-Sabit K, Kurian AW, Kwong A, Lacey JV, Lambrechts D, Le Marchand L, Li J, Linet M, Lo WY, Long J, Lophatananon A, Mannermaa A, Manoochehri M, Margolin S, Matsuo K, Mavroudis D, Menon U, Muir K, Murphy RA, Nevanlinna H, Newman WG, Niederacher D, O'Brien KM, Obi N, Offit K, Olopade OI, Olshan AF, Olsson H, Park SK, Patel AV, Patel A, Perou CM, Peto J, Pharoah PDP, Plaseska-Karanfilska D, Presneau N, Rack B, Radice P, Ramachandran D, Rashid MU, Rennert G, Romero A, Ruddy KJ, Ruebner M, Saloustros E, Sandler DP, Sawyer EJ, Schmidt MK, Schmutzler RK, Schneider MO, Scott C, Shah M, Sharma P, Shen CY, Shu XO, Simard J, Surowy H, Tamimi RM, Tapper WJ, Taylor JA, Teo SH, Teras LR, Toland AE, Tollenaar RAEM, Torres D, Torres-Mejía G, Troester MA, Truong T, Vachon CM, Vijai J, Weinberg CR, Wendt C, Winqvist R, Wolk A, Wu AH, Yamaji T, Yang XR, Yu JC, Zheng W, Ziogas A, Ziv E, Dunning AM, Easton DF, Hemingway H, Hamann U, Kuchenbaecker KB. Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry. Genome Med. 2023 01 26; 15(1):7.  View on PubMed
  14. Tamayo LI, Perez F, Perez A, Hernandez M, Martinez A, Huang X, Zavala VA, Ziv E, Neuhausen SL, Carvajal-Carmona LG, Duron Y, Fejerman L. Erratum: Cancer screening and breast cancer family history in Spanish-speaking Hispanic/Latina women in California. Front Oncol. 2022; 12:1087022.  View on PubMed
  15. Lizeth I. Tamayo, Fabian Perez, Angelia Perez, Miriam Hernandez, Alejandra Martinez, Xiaosong Huang, Valentina Zavala, Elad Ziv, Susan L. Neuhausen, Luis Carvajal-Carmona, Ysabel Duron, Laura Fejerman. Abstract C071: Cancer screening and breast cancer family history in Spanish-speaking Hispanic/Latina women in California. Cancer Epidemiology Biomarkers & Prevention. 2023 Jan 1; 32(1_Supplement):c071-c071.  View on PubMed
  16. Valentina A. Zavala, Xiaosong Huang, Sandro Casavilca-Zambrano, Jeannie Navarro-Vásquez, Carlos A. Castañeda, Guillermo Valencia, Zaida Morante, Monica Calderon, Julio E. Abugattas, Henry Gómez, Hugo A. Fuentes, Ruddy Liendo-Picoaga, Jose M. Cotrina, Silvia Neciosup, Katia Roque, Jule Vásquez, Luis MAs, Marco Gálvez-Nino, Sixto E. Sánchez, Michelle A. Williams, Elad Ziv, Jovanny Zabaleta, Bizu Gelaye, Tatiana Vidaurre Vidaurre, Laura Fejerman. Abstract C082: Breast cancer risk in Hispanic/Latina women and the 6q25 chromosomal region: Fine mapping and eQTL identification. Cancer Epidemiology Biomarkers & Prevention. 2023 Jan 1; 32(1_Supplement):c082-c082.  View on PubMed
  17. Yiwey Shieh, Jacquelyn Roger, Christina Yau, Denise Wolf, Gillian Hirst, Lamorna Swigart, Scott Huntsman, Donglei Hu, Jovia Nierenberg, Pooja Middha, Rachel Heise, Linda Kachuri, Qianqian Zhu, Song Yao, Christine Ambrosone, Marilyn Kwan, Bette Caan, John Witte, Lawrence Kushi, Laura van ’T. Veer, Laura Esserman, Elad Ziv. Abstract PR008: Development and testing of a polygenic risk score for breast cancer. Aggressiveness. Cancer Prevention Research. 2023 Jan 1; 16(1_Supplement):pr008-pr008.  View on PubMed
  18. Sayaman RW, Saad M, Heimann C, Hu D, Kunji K, Roelands J, Wolf DM, Huntsman S, Ceccarelli M, Thorsson V, Ziv E, Bedognetti D. Analytic pipelines to assess the relationship between immune response and germline genetics in human tumors. STAR Protoc. 2022 12 16; 3(4):101809.  View on PubMed
  19. Tamayo LI, Perez F, Perez A, Hernandez M, Martinez A, Huang X, Zavala VA, Ziv E, Neuhausen SL, Carvajal-Carmona LG, Duron Y, Fejerman L. Cancer screening and breast cancer family history in Spanish-speaking Hispanic/Latina women in California. Front Oncol. 2022; 12:940162.  View on PubMed
  20. Berndt SI, Vijai J, Benavente Y, Camp NJ, Nieters A, Wang Z, Smedby KE, Kleinstern G, Hjalgrim H, Besson C, Skibola CF, Morton LM, Brooks-Wilson AR, Teras LR, Breeze C, Arias J, Adami HO, Albanes D, Anderson KC, Ansell SM, Bassig B, Becker N, Bhatti P, Birmann BM, Boffetta P, Bracci PM, Brennan P, Brown EE, Burdett L, Cannon-Albright LA, Chang ET, Chiu BCH, Chung CC, Clavel J, Cocco P, Colditz G, Conde L, Conti DV, Cox DG, Curtin K, Casabonne D, De Vivo I, Diepstra A, Diver WR, Dogan A, Edlund CK, Foretova L, Fraumeni JF, Gabbas A, Ghesquières H, Giles GG, Glaser S, Glenn M, Glimelius B, Gu J, Habermann TM, Haiman CA, Haioun C, Hofmann JN, Holford TR, Holly EA, Hutchinson A, Izhar A, Jackson RD, Jarrett RF, Kaaks R, Kane E, Kolonel LN, Kong Y, Kraft P, Kricker A, Lake A, Lan Q, Lawrence C, Li D, Liebow M, Link BK, Magnani C, Maynadie M, McKay J, Melbye M, Miligi L, Milne RL, Molina TJ, Monnereau A, Montalvan R, North KE, Novak AJ, Onel K, Purdue MP, Rand KA, Riboli E, Riby J, Roman E, Salles G, Sborov DW, Severson RK, Shanafelt TD, Smith MT, Smith A, Song KW, Song L, Southey MC, Spinelli JJ, Staines A, Stephens D, Sutherland HJ, Tkachuk K, Thompson CA, Tilly H, Tinker LF, Travis RC, Turner J, Vachon CM, Vajdic CM, Van Den Berg A, Van Den Berg DJ, Vermeulen RCH, Vineis P, Wang SS, Weiderpass E, Weiner GJ, Weinstein S, Doo NW, Ye Y, Yeager M, Yu K, Zeleniuch-Jacquotte A, Zhang Y, Zheng T, Ziv E, Sampson J, Chatterjee N, Offit K, Cozen W, Wu X, Cerhan JR, Chanock SJ, Slager SL, Rothman N. Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes. Leukemia. 2022 12; 36(12):2835-2844.  View on PubMed

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