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

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. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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, 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
  8. Fernández-Rhodes L, Graff M, Buchanan VL, Justice AE, Highland HM, Guo X, Zhu W, Chen HH, Young KL, Adhikari K, Palmer ND, Below JE, Bradfield J, Pereira AC, Glover L, Kim D, Lilly AG, Shrestha P, Thomas AG, Zhang X, Chen M, Chiang CWK, Pulit S, Horimoto A, Krieger JE, Guindo-Martínez M, Preuss M, Schumann C, Smit RAJ, Torres-Mejía G, Acuña-Alonzo V, Bedoya G, Bortolini MC, Canizales-Quinteros S, Gallo C, González-José R, Poletti G, Rothhammer F, Hakonarson H, Igo R, Adler SG, Iyengar SK, Nicholas SB, Gogarten SM, Isasi CR, Papnicolaou G, Stilp AM, Qi Q, Kho M, Smith JA, Langefeld CD, Wagenknecht L, Mckean-Cowdin R, Gao XR, Nousome D, Conti DV, Feng Y, Allison MA, Arzumanyan Z, Buchanan TA, Chen YI, Genter PM, Goodarzi MO, Hai Y, Hsueh W, Ipp E, Kandeel FR, Lam K, Li X, Nadler JL, Raffel LJ, Roll K, Sandow K, Tan J, Taylor KD, Xiang AH, Yao J, Audirac-Chalifour A, Peralta Romero JJ, Hartwig F, Horta B, Blangero J, Curran JE, Duggirala R, Lehman DE, Puppala S, Fejerman L, John EM, Aguilar-Salinas C, Burtt NP, Florez JC, García-Ortíz H, González-Villalpando C, Mercader J, Orozco L, Tusié-Luna T, Blanco E, Gahagan S, Cox NJ, Hanis C, Butte NF, Cole SA, Comuzzie AG, Voruganti VS, Rohde R, Wang Y, Sofer T, Ziv E, Grant SFA, Ruiz-Linares A, Rotter JI, Haiman CA, Parra EJ, Cruz M, Loos RJF, North KE. Erratum: Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium. HGG Adv. 2023 Jan 12; 4(1):100149.  View on PubMed
  9. Cavazos TB, Kachuri L, Graff RE, Nierenberg JL, Thai KK, Alexeeff S, Van Den Eeden S, Corley DA, Kushi LH, Regeneron Genetics Center, Hoffmann TJ, Ziv E, Habel LA, Jorgenson E, Sakoda LC, Witte JS. Assessment of genetic susceptibility to multiple primary cancers through whole-exome sequencing in two large multi-ancestry studies. BMC Med. 2022 10 06; 20(1):332.  View on PubMed
  10. Dicanio M, Giaccherini M, Clay-Gilmour A, Macauda A, Sainz J, Machiela MJ, Rybicka-Ramos M, Norman AD, Tyczynska A, Chanock SJ, Barington T, Kumar SK, Bhatti P, Cozen W, Brown EE, Suska A, Haastrup EK, Orlowski RZ, Dudzinski M, Garcia-Sanz R, Kruszewski M, Martinez-Lopez J, Beider K, Iskierka-Jazdzewska E, Pelosini M, Berndt SI, Razny M, Jamroziak K, Rajkumar SV, Jurczyszyn A, Vangsted AJ, Collado PG, Vogel U, Hofmann JN, Petrini M, Butrym A, Slager SL, Ziv E, Subocz E, Giles GG, Andersen NF, Mazur G, Watek M, Lesueur F, Hildebrandt MAT, Zawirska D, Ebbesen LH, Marques H, Gemignani F, Dumontet C, Várkonyi J, Buda G, Nagler A, Druzd-Sitek A, Wu X, Kadar K, Camp NJ, Grzasko N, Waller RG, Vachon C, Canzian F, Campa D. A pleiotropic variant in DNAJB4 is associated with multiple myeloma risk. Int J Cancer. 2023 01 15; 152(2):239-248.  View on PubMed
  11. Macauda A, Clay-Gilmour A, Hielscher T, Hildebrandt MAT, Kruszewski M, Orlowski RZ, Kumar SK, Ziv E, Orciuolo E, Brown EE, Försti A, Waller RG, Machiela MJ, Chanock SJ, Camp NJ, Rymko M, Razny M, Cozen W, Várkonyi J, Piredda C, Pelosini M, Belachew AA, Subocz E, Hemminki K, Rybicka-Ramos M, Giles GG, Milne RL, Hofmann JN, Zaucha JM, Vangsted AJ, Goldschmidt H, Rajkumar SV, Tomczak W, Sainz J, Butrym A, Watek M, Iskierka-Jazdzewska E, Buda G, Robinson DP, Jurczyszyn A, Dudzinski M, Martinez-Lopez J, Sinnwell JP, Slager SL, Jamroziak K, Reis RMV, Weinhold N, Bhatti P, Carvajal-Carmona LG, Zawirska D, Norman AD, Mazur G, Berndt SI, Campa D, Vachon CM, Canzian F. Does a Multiple Myeloma Polygenic Risk Score Predict Overall Survival of Patients with Myeloma? Cancer Epidemiol Biomarkers Prev. 2022 09 02; 31(9):1863-1866.  View on PubMed
  12. Zavala VA, Casavilca-Zambrano S, Navarro-Vásquez J, Castañeda CA, Valencia G, Morante Z, Calderón M, Abugattas JE, Gómez H, Fuentes HA, Liendo-Picoaga R, Cotrina JM, Monge C, Neciosup SP, Huntsman S, Hu D, Sánchez SE, Williams MA, Núñez-Marrero A, Godoy L, Hechmer A, Olshen AB, Dutil J, Ziv E, Zabaleta J, Gelaye B, Vásquez J, Gálvez-Nino M, Enriquez-Vera D, Vidaurre T, Fejerman L. Association between Ancestry-Specific 6q25 Variants and Breast Cancer Subtypes in Peruvian Women. Cancer Epidemiol Biomarkers Prev. 2022 08 02; 31(8):1602-1609.  View on PubMed
  13. Chambwe N, Sayaman RW, Hu D, Huntsman S, Cancer Genome Analysis Network, Kemal A, Caesar-Johnson S, Zenklusen JC, Ziv E, Beroukhim R, Cherniack AD. Analysis of germline-driven ancestry-associated gene expression in cancers. STAR Protoc. 2022 09 16; 3(3):101586.  View on PubMed
  14. Yang H, Ting X, Geng YH, Xie Y, Nierenberg JL, Huo YF, Zhou YT, Huang Y, Yu YQ, Yu XY, Li XF, Ziv E, Zhang H, Fang WG, Shen Y, Tian XX. The risk variant rs11836367 contributes to breast cancer onset and metastasis by attenuating Wnt signaling via regulating NTN4 expression. Sci Adv. 2022 06 10; 8(23):eabn3509.  View on PubMed
  15. Pollock NC, Ramroop JR, Hampel H, Troester MA, Conway K, Hu JJ, Freudenheim JL, Olopade OI, Huo D, Ziv E, Neuhausen SL, Stevens P, McElroy JP, Toland AE. Differences in somatic TP53 mutation type in breast tumors by race and receptor status. Breast Cancer Res Treat. 2022 Apr; 192(3):639-648.  View on PubMed
  16. Fernández-Rhodes L, Graff M, Buchanan VL, Justice AE, Highland HM, Guo X, Zhu W, Chen HH, Young KL, Adhikari K, Palmer ND, Below JE, Bradfield J, Pereira AC, Glover L, Kim D, Lilly AG, Shrestha P, Thomas AG, Zhang X, Chen M, Chiang CWK, Pulit S, Horimoto A, Krieger JE, Guindo-Martínez M, Preuss M, Schumann C, Smit RAJ, Torres-Mejía G, Acuña-Alonzo V, Bedoya G, Bortolini MC, Canizales-Quinteros S, Gallo C, González-José R, Poletti G, Rothhammer F, Hakonarson H, Igo R, Adler SG, Iyengar SK, Nicholas SB, Gogarten SM, Isasi CR, Papnicolaou G, Stilp AM, Qi Q, Kho M, Smith JA, Langefeld CD, Wagenknecht L, Mckean-Cowdin R, Gao XR, Nousome D, Conti DV, Feng Y, Allison MA, Arzumanyan Z, Buchanan TA, Ida Chen YD, Genter PM, Goodarzi MO, Hai Y, Hsueh W, Ipp E, Kandeel FR, Lam K, Li X, Nadler JL, Raffel LJ, Roll K, Sandow K, Tan J, Taylor KD, Xiang AH, Yao J, Audirac-Chalifour A, de Jesus Peralta Romero J, Hartwig F, Horta B, Blangero J, Curran JE, Duggirala R, Lehman DE, Puppala S, Fejerman L, John EM, Aguilar-Salinas C, Burtt NP, Florez JC, García-Ortíz H, González-Villalpando C, Mercader J, Orozco L, Tusié-Luna T, Blanco E, Gahagan S, Cox NJ, Hanis C, Butte NF, Cole SA, Comuzzie AG, Voruganti VS, Rohde R, Wang Y, Sofer T, Ziv E, Grant SFA, Ruiz-Linares A, Rotter JI, Haiman CA, Parra EJ, Cruz M, Loos RJF, North KE. Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium. HGG Adv. 2022 Apr 14; 3(2):100099.  View on PubMed
  17. Rodríguez-Valentín R, Torres-Mejía G, Martínez-Matsushita L, Angeles-Llerenas A, Gómez-Flores-Ramos L, Wolff RK, Baumgartner KB, Hines LM, Ziv E, Flores-Luna L, Sánchez-Zamorano LM, Ortiz-Panozo E, Slattery ML. Energy homeostasis genes modify the association between serum concentrations of IGF-1 and IGFBP-3 and breast cancer risk. Sci Rep. 2022 02 03; 12(1):1837.  View on PubMed
  18. Esserman L, Eklund M, Veer LV, Shieh Y, Tice J, Ziv E, Blanco A, Kaplan C, Hiatt R, Fiscalini AS, Yau C, Scheuner M, Naeim A, Wenger N, Lee V, Heditsian D, Brain S, Parker BA, LaCroix AZ, Madlensky L, Hogarth M, Borowsky A, Anton-Culver H, Kaster A, Olopade OI, Sheth D, Garcia A, Lancaster R, Plaza M. The WISDOM study: a new approach to screening can and should be tested. Breast Cancer Res Treat. 2021 Oct; 189(3):593-598.  View on PubMed
  19. Huilgol YS, Keane H, Shieh Y, Hiatt RA, Tice JA, Madlensky L, Sabacan L, Fiscalini AS, Ziv E, Acerbi I, Che M, Anton-Culver H, Borowsky AD, Hunt S, Naeim A, Parker BA, van 't Veer LJ, Athena Breast Health Network Investigators and Advocate Partners, Esserman LJ. Elevated risk thresholds predict endocrine risk-reducing medication use in the Athena screening registry. NPJ Breast Cancer. 2021 Aug 03; 7(1):102.  View on PubMed
  20. Luo J, Martucci VL, Quandt Z, Groha S, Murray MH, Lovly CM, Rizvi H, Egger JV, Plodkowski AJ, Abu-Akeel M, Schulze I, Merghoub T, Cardenas E, Huntsman S, Li M, Hu D, Gubens MA, Gusev A, Aldrich MC, Hellmann MD, Ziv E. Immunotherapy-Mediated Thyroid Dysfunction: Genetic Risk and Impact on Outcomes with PD-1 Blockade in Non-Small Cell Lung Cancer. Clin Cancer Res. 2021 09 15; 27(18):5131-5140.  View on PubMed

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