Massachusetts General Hospital Cancer Center
Harvard Medical School

Boston, Massachusetts
Assistant Professor of Medicine, Harvard
Co-leader of the Computational Support Group, MGH Cancer Center

Research Projects

Dr. Rheinbay and NFCR-supported scientist, Dr. Daniel Haber, are collaborating to identify therapeutic targets that may lead to novel therapies for the most deadly subtype of breast cancer, triple negative breast cancer (TNBC). As many as 10% of TNBC exhibits overexpression or amplification of the Androgen Receptor (AR). However, unlike prostate cancer, AR expression in TNBC does not correlate with response to anti-androgens. They will determine whether this pathway can lead to a new treatment option in TNBC.

From circulating tumor cells (CTCs) from patients with and without amplification of the AR, sequencing data will be collected and from experiments that deplete the AR and its co-factor, FoxA1. Dr. Rheinbay will computationally analyze the sequencing and omic (genomic and transcriptome) data. Analysis of the data will identify genes that are differentially altered. Her lab will track genomic changes to identify potential transcription factors and DNA regulators that bind to the gene areas (loci) and contribute to the changes. This may lead to identification of downstream targets for further exploration of enriched molecular pathways.


Dr. Esther Rheinbay is an Assistant Professor of Medicine at Harvard Medical School, a Principal Investigator and the co-leader of the computational Support Group at Massachusetts General Hospital Cancer Center.

Dr. Rheinbay received her Ph.D. Bioinformatics from Boston University in 2012 and completed post-doctoral studies at MGH and the Broad Institute at MGH in 2018 prior to joining the faculty at Harvard in 2019.

Dr. Esther Rheinbay’s research is focused on the identification and characterization of non-coding somatic mutations in cancer, in particular those occurring in gene promoter regions. Her group has a specific focus on studying breast cancer genomics and epigenomics and the FOXA1 breast cancer oncogene.

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Related Updates

What is Genomic Sequencing, and Who Can Benefit?

There’s a paradigm shift taking place in the world of cancer treatment. Experts are moving away from an organ-focused approach to treatment, like using radiation to treat the specific area affected by cancer. Instead, they’re looking at genomic sequencing.  Genomics is the branch of molecular biology concerned with the structure, function, evolution, and mapping of an individual’s genes. Regarding cancer, genomics allows experts to examine DNA to determine an individual’s risk of cancer through genomic sequencing. This means that oncologists can provide more individualized treatment options for patients using precision medicine.  How can cancer risk be determined through genomic sequencing? Parents pass along many traits to their children, such as hair and eye color. Unfortunately, the risk of developing certain types of cancer can also pass along. By examining DNA, experts can identify certain changes in a person’s DNA known for increasing their risk of developing various types of cancer. However, not all cancers pass genetically. In fact, only five to ten percent of all cancers are believed to have an inherited gene mutation. It is important to note that no test can provide exact answers about a person’s inherited cancer risk. Genetic testing can tell whether a specific genetic mutation exists in the DNA. However, it cannot tell whether an individual will develop the disease associated with that mutation later in life or not. What is the benefit of genomic sequencing? Genomic sequencing cannot prevent a cancer diagnosis but can help identify cancer-related DNA mutations. This means an individual can implement precautionary measures. These measures could include making healthy lifestyle changes, such as exercising regularly, ceasing smoking, or reducing alcohol consumption. Depending on the type of mutation, medications may be available to reduce one’s risk of developing cancer. Similarly, genomic sequencing may highlight the option of surgery to remove an organ or gland to prevent cancer from forming or promote undergoing more health screenings regularly.  Who should utilize genomic sequencing? Experts typically only recommend genetic sequencing for patients whose families have a history of certain cancers or patterns of cancer. Doctors may order genetic testing for people that have: Multiple first-degree relatives with cancer diagnoses; Numerous relatives who have been diagnosed with the same cancer on one side of the family; A family history of cancers linked to a single gene mutation, such as breast cancer, ovarian cancer, or pancreatic cancer; Family member(s) who has been diagnosed with more than one type of cancer; Family member(s) who has been diagnosed with cancer at a younger age than typically seen for that cancer, such as colon cancer; Close relatives who have been diagnosed with cancers linked to rare hereditary cancer syndromes, such as Hereditary Breast & Ovarian Cancer Syndrome (HBOC), Cowden Syndrome, or Lynch Syndrome; or Family member(s) who has been diagnosed with rare cancer, such as breast cancer in a male. Can we expect more research in genomic sequencing?  National Foundation for Cancer Research (NFCR) is committed to advancing genomic research and its potential to be the future of developing treatment plans for cancer patients. As such, NFCR funds a dozen world-renowned researchers paving the way in genomic research. […]

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