Melissa Rotunno, Ph.D.

Program Director
Genomic Epidemiology Branch, Epidemiology and Genomics Research Program

Telephone: (240) 276-7245
Fax: (240) 276-7920

  • Ph.D. - Physics, University of Milan
  • Laurea - Physics, University of Milan
Contact for questions about:
  • Statistical genetics, informatics, and application of new statistical methods
  • Pleiotropic effects, heritability
  • Risk prediction
  • Variants of unknown significance (VUS)
  • Secondary analyses of genetic data


Dr. Melissa Rotunno is a Program Director in the Genomic Epidemiology Branch (GEB) of the Epidemiology and Genomics Research Program (EGRP) in NCI's Division of Cancer Control and Population Sciences (DCCPS). In this capacity, her responsibilities include expanding and managing a portfolio of grants that supports the development and implementation of more sophisticated methods in statistical genetics and genetic epidemiology for studies of complex diseases such as cancer. This will include a focus on the many analytic and computational challenges accompanying the application of next generation sequencing technologies to large scale epidemiology studies.

Prior to joining EGRP, Dr. Rotunno was a Staff Scientist in the Genetic Epidemiology Branch of NCI's intramural Division of Cancer Epidemiology and Genetics (DCEG), where she started as a Postdoctoral Fellow and then was a Research Fellow. She provided statistical and analytic technical leadership, guidance, and support for diverse genetic epidemiology projects involving high dimensional data, including germline and tumor sequencing, gene expression, copy number variation, DNA methylation, and other emerging areas essential to the understanding of cancer etiology.

Before joining NCI, Dr. Rotunno was a Postdoctoral Fellow at the University of Milan, in the Department of Occupational and Environmental Health and the Complex Fluids and Molecular Biophysics Lab. She was also an Exchange Researcher in the Liquid Crystals Material Research Center at Boulder Colorado University.

Select Publications

Rotunno M, McMaster ML, Boland J, Bass S, Zhang X, Burdett L, Hicks B, Ravichandran S, Luke BT, Yeager M, Fontaine L, Hyland PL, Goldstein AM, NCI DCEG Cancer Sequencing Working Group, NCI DCEG Cancer Genomics Research Laboratory, Chanock SJ, Caporaso NE, Tucker MA, Goldin LR. Whole exome sequencing in families at high risk for Hodgkin lymphoma: identification of a predisposing mutation in the KDR gene. Haematologica. 2016 Jul;101(7):853-60.

Sun A, Figueroa J, Sherman M, Garcia-Closas M, Meltzer P, Williams T, Schneider S, Jerry DJ, Yang R, Troester M. Parity-related molecular signatures and breast cancer subtypes by estrogen receptor status. Breast Cancer Research. 2014; 16(1):R74.

Shi J, Yang XR, Ballew BB, Rotunno M, Calista D, Fargnoli MC, Ghiorzo P, Bressac-de Paillerets B, Nagore E, Avril MF, Caporaso NE, McMaster ML, Cullen M, NCI DCEG Cancer Sequencing Working Group, NCI DCEG Cancer Genomics Research Laboratory, French Familial Melanoma Study Group, Bruno W, Pastorino L, Queirolo P, Banuls-Roca J, Garcia-Casado Z, Vaysse A, Mohamdi H, Riazalhosseini Y, Foglio M, Jouenne F, Hua X, Hyland PL et al. Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. Nature Genetics. 2014; 46(5):482-6.

Hyland PL, Pfeiffer RM, Rotunno M, Hofmann JN, Liu CS, Cheng WL, Yuenger J, Lan Q, Tucker MA, Goldstein AM, Yang XR. Constitutive mitochondrial DNA copy number in peripheral blood of melanoma families with and without CDKN2A mutations. J Carcinog Mutagen. 2014 Jun 26;2014(Suppl 4).

Rotunno M, Lam TK, Vogt A, Bertazzi PA, Lubin J, Caporaso NE, Landi MT. GSTM1 and GSTT1 copy numbers and mRNA expression in lung cancer. Molecular Carcinogenesis. 2012; 51 Suppl 1:E142-50.

Rotunno M, Hu N, Wang C, Goldstein AM, Bergen AW, Consonni D, Pesatori AC, Bertazzi PA, Wacholder S, Shih J, Caporaso NE, Taylor PR, Landi MT. A gene expression signature from peripheral whole blood for stage I lung adenocarcinoma. Cancer Prevention Research. 2011; 4:1599-1608.

Rotunno M, Zhao Y, Bergen AW, Koshiol J, Burdette L, Rubagotti M, Linnoila RI, Marincola FM, Bertazzi PA, Pesatori AC, Caporaso NE, McShane LM, Wang E, Landi MT. Inherited polymorphisms in the RNA-mediated interference machinery affect microRNA expression and lung cancer survival. British Journal of Cancer. 2010; 103(12):1870-4.