Sonja I. Berndt, Pharm.D., Ph.D.

Senior Investigator

Occupational & Environmental Epidemiology Branch

NCI/DCEG

9609 Medical Center Dr.
Room SG/6E610
Rockville, MD 20850

+1 240 276 7166

berndts@mail.nih.gov

Research Topics

Dr. Sonja Berndt’s research utilizes new analytic methods in genetic and molecular epidemiology to elucidate the etiology of cancer and anthropometric traits and explores the impact of modifiable risk factors on cancer risk and mortality. She co-leads several genome-wide association studies (GWAS) and the PLCO Prostate Cancer Progression (PCP) Study. She is a member of the InterLymph Consortium Coordinating Committee and serves as the principal investigator representing the Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial for the Genetic Investigation of Anthropometric Traits (GIANT), Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL), African American Prostate Cancer (AAPC), Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO), and Helicobacter pylori Colorectal Cancer (HpCRC) consortia.

Lymphoid Malignancies

Genetic, environmental, and immune-related factors have been implicated in the etiology of non-Hodgkin lymphoma (NHL), but the complex etiology of this disease is not well understood. To elucidate the genetic underpinnings of common NHL subtypes, Dr. Berndt co-led a large multicenter genome-wide association study (GWAS) for NHL and identified over 30 new independent single nucleotide polymorphisms (SNPs) associated with specific subtypes of NHL, more than doubling the number of identified loci for NHL and discovering a key role for apoptosis in CLL susceptibility. She is currently expanding the GWAS to include additional rare and common lymphoid malignancies. The expanded GWAS will double the sample size for discovery and lead to further exploration of the genetic architecture of lymphoid malignancies. Her research also uses next generation sequencing and bioinformatic tools to fine-map discovered risk loci and molecular technologies to further understand potential biological mechanisms.

Prostate Cancer

Both environmental and genetic factors are thought to contribute to the risk of prostate cancer. Over the past decade, through the work of Dr. Berndt and others, substantial progress has been made in identifying genetic loci associated with the risk of prostate cancer with over 150 loci discovered to date. Dr. Berndt’s research seeks to understand the genetic architecture of prostate cancer susceptibility, explore potential effect modification by environmental and occupational risk factors, and examine how these factors may be used in risk prediction and screening for prostate cancer. Although prostate cancer is one of the most common cancers in the world, only a small proportion of men die from the disease. Understanding and predicting which men are likely to die from the disease is of clinical importance to prevent overtreatment. Dr. Berndt co-leads a study of prostate cancer progression within the PLCO Cancer Screening Trial, which seeks to identify environmental, lifestyle and molecular risk factors for disease progression.

Anthropometric Traits

Although the biological mechanisms are not well understood, obesity and height are risk factors for several cancers. Both anthropometric traits have strong genetic components. Through the GIANT Consortium, Dr. Berndt and colleagues have identified hundreds of loci for height and adiposity-related traits (e.g., body mass index). This work has a had profound impact on our understanding of the genetic architecture of these traits as well as other diseases, but many questions remain. Dr. Berndt’s research seeks to further understand the genetic underpinnings of anthropometric traits and to examine the impact of adiposity on cancer risk and mortality.

Dr. Sonja Berndt’s research utilizes new analytic methods in genetic and molecular epidemiology to elucidate the etiology of cancer and anthropometric traits and explores the impact of modifiable risk factors on cancer risk and mortality. She co-leads several genome-wide association studies (GWAS) and the PLCO Prostate Cancer Progression (PCP) Study. She is a member of the InterLymph Consortium Coordinating Committee and serves as the principal investigator representing the Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial for the Genetic Investigation of Anthropometric Traits (GIANT), Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL), African American Prostate Cancer (AAPC), Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO), and Helicobacter pylori Colorectal Cancer (HpCRC) consortia. Lymphoid Malignancies Genetic, environmental, and immune-related factors have been implicated in the etiology of non-Hodgkin lymphoma (NHL), but the complex etiology of this disease is not well understood. To elucidate the genetic underpinnings of common NHL subtypes, Dr. Berndt co-led a large multicenter genome-wide association study (GWAS) for NHL and identified over 30 new independent single nucleotide polymorphisms (SNPs) associated with specific subtypes of NHL, more than doubling the number of identified loci for NHL and discovering a key role for apoptosis in CLL susceptibility. She is currently expanding the GWAS to include additional rare and common lymphoid malignancies. The expanded GWAS will double the sample size for discovery and lead to further exploration of the genetic architecture of lymphoid malignancies. Her research also uses next generation sequencing and bioinformatic tools to fine-map discovered risk loci and molecular technologies to further understand potential biological mechanisms. Prostate Cancer Both environmental and genetic factors are thought to contribute to the risk of prostate cancer. Over the past decade, through the work of Dr. Berndt and others, substantial progress has been made in identifying genetic loci associated with the risk of prostate cancer with over 150 loci discovered to date. Dr. Berndt’s research seeks to understand the genetic architecture of prostate cancer susceptibility, explore potential effect modification by environmental and occupational risk factors, and examine how these factors may be used in risk prediction and screening for prostate cancer. Although prostate cancer is one of the most common cancers in the world, only a small proportion of men die from the disease. Understanding and predicting which men are likely to die from the disease is of clinical importance to prevent overtreatment. Dr. Berndt co-leads a study of prostate cancer progression within the PLCO Cancer Screening Trial, which seeks to identify environmental, lifestyle and molecular risk factors for disease progression. Anthropometric Traits Although the biological mechanisms are not well understood, obesity and height are risk factors for several cancers. Both anthropometric traits have strong genetic components. Through the GIANT Consortium, Dr. Berndt and colleagues have identified hundreds of loci for height and adiposity-related traits (e.g., body mass index). This work has a had profound impact on our understanding of the genetic architecture of these traits as well as other diseases, but many questions remain. Dr. Berndt’s research seeks to further understand the genetic underpinnings of anthropometric traits and to examine the impact of adiposity on cancer risk and mortality.

Biography

Dr. Berndt received a Pharm.D. from the University of Michigan, and a Ph.D. in epidemiology from Johns Hopkins University. She joined DCEG in 2003 as a pre-doctoral fellow, becoming a post-doctoral fellow in 2006 within the Occupational and Environmental Epidemiology Branch. In 2009, Dr. Berndt was appointed to the position of tenure-track investigator. She was awarded scientific tenure and promoted to senior investigator in March 2017. She has received several awards for her work, including an NCI Intramural Research Award, NCI Director’s Career Development Award, and several DCEG and NIH Fellowship Achievement awards for excellence in research.

Dr. Berndt received a Pharm.D. from the University of Michigan, and a Ph.D. in epidemiology from Johns Hopkins University. She joined DCEG in 2003 as a pre-doctoral fellow, becoming a post-doctoral fellow in 2006 within the Occupational and Environmental Epidemiology Branch. In 2009, Dr. Berndt was appointed to the position of tenure-track investigator. She was awarded scientific tenure and promoted to senior investigator in March 2017. She has received several awards for her work, including an NCI Intramural Research Award, NCI Director’s Career Development Award, and several DCEG and NIH Fellowship Achievement awards for excellence in research.

Selected Publications

  1. Berndt SI, Skibola CF, Joseph V, Camp NJ, Nieters A, Wang Z, Cozen W, Monnereau A, Wang SS, Kelly RS, Lan Q, Teras LR, Chatterjee N, Chung CC, Yeager M, Brooks-Wilson AR, Hartge P, Purdue MP, Birmann BM, Armstrong BK, Cocco P, Zhang Y, Severi G, Zeleniuch-Jacquotte A, Lawrence C, Burdette L, Yuenger J, Hutchinson A, Jacobs KB, Call TG, Shanafelt TD, Novak AJ, Kay NE, Liebow M, Wang AH, Smedby KE, Adami HO, Melbye M, Glimelius B, Chang ET, Glenn M, Curtin K, Cannon-Albright LA, Jones B, Diver WR, Link BK, Weiner GJ, Conde L, Bracci PM, Riby J, Holly EA, Smith MT, Jackson RD, Tinker LF, Benavente Y, Becker N, Boffetta P, Brennan P, Foretova L, Maynadie M, McKay J, Staines A, Rabe KG, Achenbach SJ, Vachon CM, Goldin LR, Strom SS, Lanasa MC, Spector LG, Leis JF, Cunningham JM, Weinberg JB, Morrison VA, Caporaso NE, Norman AD, Linet MS, De Roos AJ, Morton LM, Severson RK, Riboli E, Vineis P, Kaaks R, Trichopoulos D, Masala G, Weiderpass E, Chirlaque MD, Vermeulen RC, Travis RC, Giles GG, Albanes D, Virtamo J, Weinstein S, Clavel J, Zheng T, Holford TR, Offit K, Zelenetz A, Klein RJ, Spinelli JJ, Bertrand KA, Laden F, Giovannucci E, Kraft P, Kricker A, Turner J, Vajdic CM, Ennas MG, Ferri GM, Miligi L, Liang L, Sampson J, Crouch S, Park JH, North KE, Cox A, Snowden JA, Wright J, Carracedo A, Lopez-Otin C, Bea S, Salaverria I, Martin-Garcia D, Campo E, Fraumeni JF Jr, de Sanjose S, Hjalgrim H, Cerhan JR, Chanock SJ, Rothman N, Slager SL. Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. Nat Genet. 2013;45(8):868-76.
  2. Berndt SI, Gustafsson S, Mägi R, Ganna A, Wheeler E, Feitosa MF, Justice AE, Monda KL, Croteau-Chonka DC, Day FR, Esko T, Fall T, Ferreira T, Gentilini D, Jackson AU, Luan J, Randall JC, Vedantam S, Willer CJ, Winkler TW, Wood AR, Workalemahu T, Hu YJ, Lee SH, Liang L, Lin DY, Min JL, Neale BM, Thorleifsson G, Yang J, Albrecht E, Amin N, Bragg-Gresham JL, Cadby G, den Heijer M, Eklund N, Fischer K, Goel A, Hottenga JJ, Huffman JE, Jarick I, Johansson Å, Johnson T, Kanoni S, Kleber ME, König IR, Kristiansson K, Kutalik Z, Lamina C, Lecoeur C, Li G, Mangino M, McArdle WL, Medina-Gomez C, Müller-Nurasyid M, Ngwa JS, Nolte IM, Paternoster L, Pechlivanis S, Perola M, Peters MJ, Preuss M, Rose LM, Shi J, Shungin D, Smith AV, Strawbridge RJ, Surakka I, Teumer A, Trip MD, Tyrer J, Van Vliet-Ostaptchouk JV, Vandenput L, Waite LL, Zhao JH, Absher D, Asselbergs FW, Atalay M, Attwood AP, Balmforth AJ, Basart H, Beilby J, Bonnycastle LL, Brambilla P, Bruinenberg M, Campbell H, Chasman DI, Chines PS, Collins FS, Connell JM, Cookson WO, de Faire U, de Vegt F, Dei M, Dimitriou M, Edkins S, Estrada K, Evans DM, Farrall M, Ferrario MM, Ferrières J, Franke L, Frau F, Gejman PV, Grallert H, Grönberg H, Gudnason V, Hall AS, Hall P, Hartikainen AL, Hayward C, Heard-Costa NL, Heath AC, Hebebrand J, Homuth G, Hu FB, Hunt SE, Hyppönen E, Iribarren C, Jacobs KB, Jansson JO, Jula A, Kähönen M, Kathiresan S, Kee F, Khaw KT, Kivimäki M, Koenig W, Kraja AT, Kumari M, Kuulasmaa K, Kuusisto J, Laitinen JH, Lakka TA, Langenberg C, Launer LJ, Lind L, Lindström J, Liu J, Liuzzi A, Lokki ML, Lorentzon M, Madden PA, Magnusson PK, Manunta P, Marek D, März W, Mateo Leach I, McKnight B, Medland SE, Mihailov E, Milani L, Montgomery GW, Mooser V, Mühleisen TW, Munroe PB, Musk AW, Narisu N, Navis G, Nicholson G, Nohr EA, Ong KK, Oostra BA, Palmer CN, Palotie A, Peden JF, Pedersen N, Peters A, Polasek O, Pouta A, Pramstaller PP, Prokopenko I, Pütter C, Radhakrishnan A, Raitakari O, Rendon A, Rivadeneira F, Rudan I, Saaristo TE, Sambrook JG, Sanders AR, Sanna S, Saramies J, Schipf S, Schreiber S, Schunkert H, Shin SY, Signorini S, Sinisalo J, Skrobek B, Soranzo N, Stančáková A, Stark K, Stephens JC, Stirrups K, Stolk RP, Stumvoll M, Swift AJ, Theodoraki EV, Thorand B, Tregouet DA, Tremoli E, Van der Klauw MM, van Meurs JB, Vermeulen SH, Viikari J, Virtamo J, Vitart V, Waeber G, Wang Z, Widén E, Wild SH, Willemsen G, Winkelmann BR, Witteman JC, Wolffenbuttel BH, Wong A, Wright AF, Zillikens MC, Amouyel P, Boehm BO, Boerwinkle E, Boomsma DI, Caulfield MJ, Chanock SJ, Cupples LA, Cusi D, Dedoussis GV, Erdmann J, Eriksson JG, Franks PW, Froguel P, Gieger C, Gyllensten U, Hamsten A, Harris TB, Hengstenberg C, Hicks AA, Hingorani A, Hinney A, Hofman A, Hovingh KG, Hveem K, Illig T, Jarvelin MR, Jöckel KH, Keinanen-Kiukaanniemi SM, Kiemeney LA, Kuh D, Laakso M, Lehtimäki T, Levinson DF, Martin NG, Metspalu A, Morris AD, Nieminen MS, Njølstad I, Ohlsson C, Oldehinkel AJ, Ouwehand WH, Palmer LJ, Penninx B, Power C, Province MA, Psaty BM, Qi L, Rauramaa R, Ridker PM, Ripatti S, Salomaa V, Samani NJ, Snieder H, Sørensen TI, Spector TD, Stefansson K, Tönjes A, Tuomilehto J, Uitterlinden AG, Uusitupa M, van der Harst P, Vollenweider P, Wallaschofski H, Wareham NJ, Watkins H, Wichmann HE, Wilson JF, Abecasis GR, Assimes TL, Barroso I, Boehnke M, Borecki IB, Deloukas P, Fox CS, Frayling T, Groop LC, Haritunian T, Heid IM, Hunter D, Kaplan RC, Karpe F, Moffatt MF, Mohlke KL, O'Connell JR, Pawitan Y, Schadt EE, Schlessinger D, Steinthorsdottir V, Strachan DP, Thorsteinsdottir U, van Duijn CM, Visscher PM, Di Blasio AM, Hirschhorn JN, Lindgren CM, Morris AP, Meyre D, Scherag A, McCarthy MI, Speliotes EK, North KE, Loos RJ, Ingelsson E. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet. 2013;45(5):501-12.
  3. Berndt SI, Wang Z, Yeager M, Alavanja MC, Albanes D, Amundadottir L, Andriole G, Beane Freeman L, Campa D, Cancel-Tassin G, Canzian F, Cornu JN, Cussenot O, Diver WR, Gapstur SM, Grönberg H, Haiman CA, Henderson B, Hutchinson A, Hunter DJ, Key TJ, Kolb S, Koutros S, Kraft P, Le Marchand L, Lindström S, Machiela MJ, Ostrander EA, Riboli E, Schumacher F, Siddiq A, Stanford JL, Stevens VL, Travis RC, Tsilidis KK, Virtamo J, Weinstein S, Wilkund F, Xu J, Lilly Zheng S, Yu K, Wheeler W, Zhang H, African Ancestry Prostate Cancer GWAS Consortium., Sampson J, Black A, Jacobs K, Hoover RN, Tucker M, Chanock SJ. Two susceptibility loci identified for prostate cancer aggressiveness. Nat Commun. 2015;6:6889.
  4. Koutros S, Meyer TE, Fox SD, Issaq HJ, Veenstra TD, Huang WY, Yu K, Albanes D, Chu LW, Andriole G, Hoover RN, Hsing AW, Berndt SI. Prospective evaluation of serum sarcosine and risk of prostate cancer in the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial. Carcinogenesis. 2013;34(10):2281-5.
  5. Berndt SI, Camp NJ, Skibola CF, Vijai J, Wang Z, Gu J, Nieters A, Kelly RS, Smedby KE, Monnereau A, Cozen W, Cox A, Wang SS, Lan Q, Teras LR, Machado M, Yeager M, Brooks-Wilson AR, Hartge P, Purdue MP, Birmann BM, Vajdic CM, Cocco P, Zhang Y, Giles GG, Zeleniuch-Jacquotte A, Lawrence C, Montalvan R, Burdett L, Hutchinson A, Ye Y, Call TG, Shanafelt TD, Novak AJ, Kay NE, Liebow M, Cunningham JM, Allmer C, Hjalgrim H, Adami HO, Melbye M, Glimelius B, Chang ET, Glenn M, Curtin K, Cannon-Albright LA, Diver WR, Link BK, Weiner GJ, Conde L, Bracci PM, Riby J, Arnett DK, Zhi D, Leach JM, Holly EA, Jackson RD, Tinker LF, Benavente Y, Sala N, Casabonne D, Becker N, Boffetta P, Brennan P, Foretova L, Maynadie M, McKay J, Staines A, Chaffee KG, Achenbach SJ, Vachon CM, Goldin LR, Strom SS, Leis JF, Weinberg JB, Caporaso NE, Norman AD, De Roos AJ, Morton LM, Severson RK, Riboli E, Vineis P, Kaaks R, Masala G, Weiderpass E, Chirlaque MD, Vermeulen RC, Travis RC, Southey MC, Milne RL, Albanes D, Virtamo J, Weinstein S, Clavel J, Zheng T, Holford TR, Villano DJ, Maria A, Spinelli JJ, Gascoyne RD, Connors JM, Bertrand KA, Giovannucci E, Kraft P, Kricker A, Turner J, Ennas MG, Ferri GM, Miligi L, Liang L, Ma B, Huang J, Crouch S, Park JH, Chatterjee N, North KE, Snowden JA, Wright J, Fraumeni JF, Offit K, Wu X, de Sanjose S, Cerhan JR, Chanock SJ, Rothman N, Slager SL. Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia. Nat Commun. 2016;7:10933.

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