Robert Nussbaum, MD

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Robert Nussbaum, MD

Professor, Department of Medicine, and Chief, Division of Medical Genetics, UCSF
Holly Smith Distinguished Professorship in Science and Medicine, UCSF

nussbaumr@humgen.ucsf.edu

Phone: (415) 476-3200 (voice)
Box 0794, UCSF
San Francisco, CA 94143-0794

View on UCSF Profiles

Cancer Center Membership

Associate Member » Cancer Genetics

Education

Harvard College, AB, 1967-1971, Applied Mathematics
Harvard-MIT Joint Program in Health Sciences and Technology, MD, 1971-1975, Medicine
Washington University & Barnes Hospital, 1975-1978, Internal medicine
Baylor College of Medicine, 1978-1981, Medical Genetics


Professional Experience

  • 1981-1984
    Assistant Professor of Medicine, Baylor College of Medicine
  • 1983-1993
    Associate Investigator, Howard Hughes Medical Institute
  • 1984-1989
    Assistant Professor of Human Genetics & Pediatrics, Univ. of Pennsylvania
  • 1989-1993
    Associate Professor of Human Genetics & Pediatrics, Univ. of Pennsylvania
  • 1993-1994
    Professor of Genetics, Univ. of Pennsylvania
  • 1994-2006
    Chief, Genetic Disease Research Branch, National Human Genome Research Institute; NIH
  • 1996-2006
    Acting Chief, Inherited Disease Research Branch, NHGRI
  • 2006-present
    Holly Smith Chair and Professor of Medicine; Chief, Medical Genetics; Member, Institute of Human Genetics, UCSF. Professor of Neurology, UCSF
  • 2007-present
    Executive Committee of the Biomedical Graduate Studies Graduate Program. Medical Scientist Training Program Council

Honors & Awards

  • 1975Elected to Alpha Omega Alpha
  • 1977Outstanding Medical Resident, Barnes Hospital
  • 1986Medical Research Award, Lowe's Syndrome Association
  • 1987Elected Member, American Society for Clinical Investigation
  • 1989Master of Arts (honorary), University of Pennsylvania
  • 1991Sir Clavering Fison Visiting Professor, Institute for Child Health, Hospital for Sick Children, Great London, UK
  • 1993
    Medical Research Award, Lowe's Syndrome Association
  • 1994
    Morehouse School of Medicine Human Genome/Molecular Medicine Symposium Lecturer
  • 1996
    Medical Research Award, Lowe's Syndrome Association
  • 1996
    Elected Member, Association of American Physicians
  • 1996
    NHGRI Director's Award
  • 1996
    NIH Director's Award
  • 1998
    NHGRI Director's Award
  • 1999
    G. Burroughs Mider Lectureship, National Institutes of Health
  • 2003
    NHGRI Director's Award
  • 2003
    Forbes Lectureship, Medical College of Virginia
  • 2004
    Elected Member, Institute of Medicine of the National Academy of Science
  • 2004
    NHGRI Director's Distinguished Service Award
  • 2008
    Legacy Award, Lowe's Syndrome Research, for over two decades of Lowe Syndrome Research

Selected Publications

  1. Wang Y, Bernhardy AJ, Cruz C, Krais JJ, Nacson J, Nicolas E, Peri S, van der Gulden H, van der Heijden I, O'Brien SW, Zhang Y, Harrell MI, Johnson SF, Candido Dos Reis FJ, Pharoah PD, Karlan B, Gourley C, Lambrechts D, Chenevix-Trench G, Olsson H, Benitez JJ, Greene MH, Gore M, Nussbaum R, Sadetzki S, Gayther SA, Kjaer SK. The BRCA1-?11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutic Resistance to PARP Inhibition and Cisplatin. Cancer Res. 2016 May 1; 76(9):2778-90.
    View on PubMed
  2. Dunning AM, Michailidou K, Kuchenbaecker KB, Thompson D, French JD, Beesley J, Healey CS, Kar S, Pooley KA, Lopez-Knowles E, Dicks E, Barrowdale D, Sinnott-Armstrong NA, Sallari RC, Hillman KM, Kaufmann S, Sivakumaran H, Moradi Marjaneh M, Lee JS, Hills M, Jarosz M, Drury S, Canisius S, Bolla MK, Dennis J, Wang Q, Hopper JL, Southey MC, Broeks A, Schmidt MK, Lophatananon A, Muir K, Beckmann MW, Fasching PA, Dos-Santos-Silva I, Peto J, Sawyer EJ, Tomlinson I, Burwinkel B, Marme F, Guénel P, Truong T, Bojesen SE, Flyger H, González-Neira A, Perez JI, Anton-Culver H, Eunjung L, Arndt V, Brenner H, Meindl A, Schmutzler RK, Brauch H, Hamann U, Aittomäki K, Blomqvist C, Ito H, Matsuo K, Bogdanova N, Dörk T, Lindblom A, Margolin S, Kosma VM, Mannermaa A, Tseng CC, Wu AH, Lambrechts D, Wildiers H, Chang-Claude J, Rudolph A, Peterlongo P, Radice P, Olson JE, Giles GG, Milne RL, Haiman CA, Henderson BE, Goldberg MS, Teo SH, Yip CH, Nord S, Borresen-Dale AL, Kristensen V, Long J, Zheng W, Pylkäs K, Winqvist R, Andrulis IL, Knight JA, Devilee P, Seynaeve C, Figueroa J, Sherman ME, Czene K, Darabi H, Hollestelle A, van den Ouweland AM, Humphreys K, Gao YT, Shu XO, Cox A, Cross SS, Blot W, Cai Q, Ghoussaini M, Perkins BJ, Shah M, Choi JY, Kang D, Lee SC, Hartman M, Kabisch M, Torres D, Jakubowska A, Lubinski J, Brennan P, Sangrajrang S, Ambrosone CB, Toland AE, Shen CY, Wu PE, Orr N, Swerdlow A, McGuffog L, Healey S, Lee A, Kapuscinski M, John EM, Terry MB, Daly MB, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ejlertsen B, Hansen TV, Osorio A, Benitez J, Rando R, Weitzel JN, Bonanni B, Peissel B, Manoukian S, Papi L, Ottini L, Konstantopoulou I, Apostolou P, Garber J, Rashid MU, Frost D. Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. Nat Genet. 2016 Apr; 48(4):374-86.
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  3. Delaney SK, Hultner ML, Jacob HJ, Ledbetter DH, McCarthy JJ, Ball M, Beckman KB, Belmont JW, Bloss CS, Christman MF, Cosgrove A, Damiani SA, Danis T, Delledonne M, Dougherty MJ, Dudley JT, Faucett WA, Friedman JR, Haase DH, Hays TS, Heilsberg S, Huber J, Kaminsky L, Ledbetter N, Lee WH, Levin E, Libiger O, Linderman M, Love RL, Magnus DC, Martland A, McClure SL, Megill SE, Messier H, Nussbaum RL, Palaniappan L, Patay BA, Popovich BW, Quackenbush J, Savant MJ, Su MM, Terry SF, Tucker S, Wong WT, Green RC. Toward clinical genomics in everyday medicine: perspectives and recommendations. Expert Rev Mol Diagn. 2016 May; 16(5):521-32.
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  4. Brenner SE, Kingsmore S, Mooney SD, Nussbaum R, Puck J. USE OF GENOME DATA IN NEWBORNS AS A STARTING POINT FOR LIFE-LONG PRECISION MEDICINE. Pac Symp Biocomput. 2016; 21:568-75.
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  5. Nussbaum RL, Rehm HL. ClinGen and Genetic Testing. N Engl J Med. 2015 Oct; 373(14):1379.
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  6. Shah AD, Hsiao EC, O'Donnell B, Salmeen K, Nussbaum R, Krebs M, Baumgartner-Parzer S, Kaufmann M, Jones G, Bikle DD, Wang Y, Mathew AS, Shoback D, Block-Kurbisch I. Maternal Hypercalcemia Due to Failure of 1,25-Dihydroxyvitamin-D3 Catabolism in a Patient With CYP24A1 Mutations. J Clin Endocrinol Metab. 2015 Aug; 100(8):2832-6.
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  7. Steffensen AB, Refaat MM, David JP, Mujezinovic A, Calloe K, Wojciak J, Nussbaum RL, Scheinman MM, Schmitt N. High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance. Sci Rep. 2015; 5:10009.
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  8. Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS. ClinGen--the Clinical Genome Resource. N Engl J Med. 2015 Jun 4; 372(23):2235-42.
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  9. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. Gynecol Oncol. 2016 May; 141(2):386-401.
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  10. Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, Mazoyer S, Chenevix-Trench G, Easton DF, Antoniou AC, Nathanson KL. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA. 2015 Apr 7; 313(13):1347-61.
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  11. Blanco I, Kuchenbaecker K, Cuadras D, Wang X, Barrowdale D, de Garibay GR, Librado P, Sánchez-Gracia A, Rozas J, Bonifaci N, McGuffog L, Pankratz VS, Islam A, Mateo F, Berenguer A, Petit A, Català I, Brunet J, Feliubadaló L, Tornero E, Benítez J, Osorio A, Cajal TR, Nevanlinna H, Aittomäki K, Arun BK, Toland AE, Karlan BY, Walsh C, Lester J, Greene MH, Mai PL, Nussbaum RL, Andrulis IL, Domchek SM, Nathanson KL, Rebbeck TR, Barkardottir RB, Jakubowska A, Lubinski J, Durda K, Jaworska-Bieniek K, Claes K, Van Maerken T, Díez O, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, de la Hoya M, Caldés T, Dunning AM, Oliver C, Fineberg E, Cook M, Peock S, McCann E, Murray A, Jacobs C, Pichert G, Lalloo F, Chu C, Dorkins H, Paterson J, Ong KR, Teixeira MR. Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers. PLoS One. 2015; 10(4):e0120020.
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  12. Kuchenbaecker KB, Ramus SJ, Tyrer J, Lee A, Shen HC, Beesley J, Lawrenson K, McGuffog L, Healey S, Lee JM, Spindler TJ, Lin YG, Pejovic T, Bean Y, Li Q, Coetzee S, Hazelett D, Miron A, Southey M, Terry MB, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, Barrowdale D, Dennis J, Benitez J, Osorio A, Garcia MJ, Komenaka I, Weitzel JN, Ganschow P, Peterlongo P, Bernard L, Viel A, Bonanni B, Peissel B, Manoukian S, Radice P, Papi L, Ottini L, Fostira F, Konstantopoulou I, Garber J, Frost D, Perkins J, Platte R, Ellis S. Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nat Genet. 2015 Feb; 47(2):164-71.
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  13. Kuchenbaecker KB, Neuhausen SL, Robson M, Barrowdale D, McGuffog L, Mulligan AM, Andrulis IL, Spurdle AB, Schmidt MK, Schmutzler RK, Engel C, Wappenschmidt B, Nevanlinna H, Thomassen M, Southey M, Radice P, Ramus SJ, Domchek SM, Nathanson KL, Lee A, Healey S, Nussbaum RL, Rebbeck TR, Arun BK, James P, Karlan BY, Lester J, Cass I. Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res. 2014; 16(6):3416.
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  14. Tyburczy ME, Jozwiak S, Malinowska IA, Chekaluk Y, Pugh TJ, Wu CL, Nussbaum RL, Seepo S, Dzik T, Kotulska K, Kwiatkowski DJ. A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. Hum Mol Genet. 2015 Apr 1; 24(7):1836-42.
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  15. Candido-Dos-Reis FJ, Song H, Goode EL, Cunningham JM, Fridley BL, Larson MC, Alsop K, Dicks E, Harrington P, Ramus SJ, de Fazio A, Mitchell G, Fereday S, Bolton KL, Gourley C, Michie C, Karlan B, Lester J, Walsh C, Cass I, Olsson H, Gore M, Benitez JJ, Garcia MJ, Andrulis I, Mulligan AM, Glendon G, Blanco I, Lazaro C, Whittemore AS, McGuire V, Sieh W, Montagna M, Alducci E, Sadetzki S, Chetrit A, Kwong A, Kjaer SK, Jensen A, Høgdall E, Neuhausen S, Nussbaum R, Daly M, Greene MH, Mai PL, Loud JT, Moysich K, Toland AE, Lambrechts D, Ellis S, Frost D, Brenton JD, Tischkowitz M, Easton DF, Antoniou A, Chenevix-Trench G, Gayther SA, Bowtell D, Pharoah PD. Germline Mutation in BRCA1 or BRCA2 and Ten-Year Survival for Women Diagnosed with Epithelial Ovarian Cancer. Clin Cancer Res. 2015 Feb 1; 21(3):652-7.
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  16. Fishbein I, Kuo YM, Giasson BI, Nussbaum RL. Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation. Brain. 2014 Dec; 137(Pt 12):3235-47.
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  17. Peterlongo P, Chang-Claude J, Moysich KB, Rudolph A, Schmutzler RK, Simard J, Soucy P, Eeles RA, Easton DF, Hamann U, Wilkening S, Chen B, Rookus MA, Schmidt MK, van der Baan FH, Spurdle AB, Walker LC, Lose F, Maia AT, Montagna M, Matricardi L, Lubinski J, Jakubowska A, Gómez Garcia EB, Olopade OI, Nussbaum RL, Nathanson KL, Domchek SM, Rebbeck TR, Arun BK, Karlan BY, Orsulic S, Lester J, Chung WK, Miron A, Southey MC, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Ding YC, Neuhausen SL, Hansen TV, Gerdes AM, Ejlertsen B, Jønson L, Osorio A, Martínez-Bouzas C, Benitez J, Conway EE, Blazer KR, Weitzel JN, Manoukian S, Peissel B, Zaffaroni D, Scuvera G, Barile M, Ficarazzi F, Mariette F, Fortuzzi S, Viel A, Giannini G, Papi L, Martayan A, Tibiletti MG, Radice P, Vratimos A, Fostira F, Garber JE, Donaldson A, Brewer C, Foo C, Evans DG, Frost D, Eccles D, Brady A, Cook J, Tischkowitz M, Adlard J, Barwell J, Walker L, Izatt L, Side LE, Kennedy MJ, Rogers MT, Porteous ME, Morrison PJ, Platte R, Davidson R, Hodgson SV, Ellis S, Cole T. Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2015 Jan; 24(1):308-16.
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  18. Yang P, Cornejo KM, Sadow PM, Cheng L, Wang M, Xiao Y, Jiang Z, Oliva E, Jozwiak S, Nussbaum RL, Feldman AS, Paul E, Thiele EA, Yu JJ, Henske EP, Kwiatkowski DJ, Young RH, Wu CL. Renal cell carcinoma in tuberous sclerosis complex. Am J Surg Pathol. 2014 Jul; 38(7):895-909.
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  19. Jackson SA, Davis AA, Li J, Yi N, McCormick SR, Grant C, Fallen T, Crawford B, Loranger K, Litton J, Arun B, Vande Wydeven K, Sidani A, Farmer K, Sanders M, Hoskins K, Nussbaum R, Esserman L, Garber JE, Kaklamani VG. Characteristics of individuals with breast cancer rearrangements in BRCA1 and BRCA2. Cancer. 2014 May 15; 120(10):1557-64.
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  20. Escobar VD, Kuo YM, Orrison BM, Giasson BI, Nussbaum RL. Transgenic mice expressing S129 phosphorylation mutations in a-synuclein. Neurosci Lett. 2014 Mar 20; 563:96-100.
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