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Discovering the causes of cancer and the means of prevention

Laboratory of Translational Genomics

Understanding the contribution of germline genetic variation to cancer etiology and outcomes

The Laboratory of Translational Genomics (LTG) conducts studies on germline and somatic genetics of cancer, and analyses on particular regions of the genome conclusively identified in cancer-specific genome-wide association studies (GWAS) and linkage studies in high-risk families.

Research Mission

LTG's mission is to understand the contribution of germline and somatic genetic variation to cancer etiology and outcomes. Its primary goals are to investigate regions of genetic variation by:

  • Detecting cancer susceptibility alleles
  • Fine mapping of susceptibility alleles using sequence analysis and imputation from public databases
  • Prioritizing variants for follow-up studies through bioinformatic analysis of candidate variants
  • Deciphering the biological mechanisms underlying susceptibility alleles through laboratory investigation

Learn more about specific LTG research areas.


LTG accepts fellowship applications on an ongoing basis. Meet the current LTG fellows and learn about research training opportunities in LTG.


Essential to the mission of the Laboratory is a close collaboration with the NCI-Frederick Cancer Genomics Research Laboratory (CGR). Formerly known as the Core Genotyping Facility (CGF), this laboratory designs and conducts high throughput sequencing, genotyping, and analysis in support of large scale epidemiologic studies.

LTG in the News

Explore an assortment of talks, videos, and news items by LTG staff.

LTG Highlights

O'Brien TR, Pfeiffer RM, Paquin A, […] Prokunina-Olsson L. Comparison of Functional Variants in IFNL4 and IFNL3 for Association with Hepatitis C Virus Clearance. J Hepatol 2015 Jul 14. [Epub ahead of print]

Onabajo OO, Porter-Gill P, Paquin A, […] Prokunina-Olsson L. Expression of Interferon Lambda 4 Is Associated with Reduced Proliferation and Increased Cell Death in Human Hepatic Cells. J Interferon Cytokine Res 2015 Jul 2. [Epub ahead of print]

Aoude LG,  Pritchard AL,  Robles-Espinoza CD, […] Brown KM,  Adams DJ,  Hayward NK. Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma. J Natl Cancer Inst 2014 Dec 13.

Fu YP,  Kohaar I,  Moore LE,  […] Prokunina-Olsson L. The 19q12 bladder cancer GWAS signal: association with cyclin E function and aggressive disease. Cancer Res 2014 Oct 15.

Hoskins JW,  Jia J,  Flandez M,  […] Amundadottir LT. Transcriptome analysis of pancreatic cancer reveals a tumor suppressor function for HNF1A. Carcinogenesis 2014 Dec; Epub 2014 Sep 18.

Wolpin BM, Rizzato C, Kraft P, […] Amundadottir LT. Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. Nat Genet 2014 Sep; Epub 2014 Aug 3.

Aoude LG, Xu M, Zhao ZZ, […] Brown KM, Hayward NK. Assessment of PALB2 as a candidate melanoma susceptibility gene. PLoS One 2014 Jun 20.

Jia J, Bosley AD, Thompson A, […] Amundadottir LT. CLPTM1L promotes growth and enhances aneuploidy in pancreatic cancer cells. Cancer Res 2014 May 15; Epub 2014 Mar 19.

Yokoyama S, Woods SL, Boyle GM, […] Brown KM. A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. Nature 2011 Nov 13.