Mission & Scope


To investigate the hereditary causes of cancer, germline (inherited) DNA sequences are generated for groups of people who are affected by, or at risk for, inherited cancers. These projects usually originate within the Niehaus Center but may be performed in collaboration with other investigators at MSK or outside institutions.

Within MSK, the Niehaus Center has collaborations underway on different types of cancer. These projects receive funding from federal agencies, foundations, and other sources. Genomic sequencing for these studies is carried out in MSK core facilities or in external laboratories.

Researchers in the Niehaus Center also have expertise in the requirements and considerations of undertaking research related to germline mutations in humans.

Some studies within the Niehaus Center leverage the resources of MSK-IMPACT™. This targeted tumor-sequencing test detects genetic alterations in cancer and helps define therapeutic targets. Every MSK patient who has this testing provides a sample from both tumor and normal tissue.

Analysis of the normal sample can provide information about germline mutations. These findings can have implications for treatment as well as risk assessment and prevention for family members. Sequencing of normal DNA also allows MSK researchers to use inherited genomic data for research and discovery.

Initial studies from the Niehaus Center have shown that about half of MSK patients with common cancers have inherited mutations that would not be predicted by known clinical guidelines. Outreach to the families of these patients can be an opportunity for early warning, detection, and prevention.

MSK surgeon José Guillem and patient Elliot Katz
A Family Discovers an Unexpected Cancer Risk in Their Genes
Two brothers discuss their surprise at being diagnosed with Lynch syndrome.
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Collaboration and Consultation for MSK Investigators

In addition to their primary mission of discovering novel mechanisms of inherited susceptibility to cancer, Niehaus investigators also facilitate germline research in other MSK labs. In this role, the staff provides consultative services for investigators who are seeking to undertake studies using germline DNA sequences that are correlated with phenotypic features, such as the type of tumor, demographics, and clinical outcomes.

MSK investigators seeking to carry out studies about hereditary cancer using germline data from MSK-IMPACT have several options. For data on patients who have signed part C consent, reports on a subset of genes are included in the electronic medical record.

The Niehaus senior leaders also review proposals from investigators that describe the general aims of their study as it relates to germline genetics. For further information on seeking consultation for such studies, contact [email protected].