“There is a lot of cancer in my family, but my genetic testing
was negative. It’s a reassuring feeling but also frustrating, since we
don’t have an answer.”
“I tested positive for the gene mutation running in my family,
although I’ve never been diagnosed with cancer. I wish there was some
way for me to contribute to new developments in early detection or even
“I have heard that genetic testing improves over time and new
genes are being discovered…how can I know when there is additional
testing available that might be beneficial to me and my family?”
Do any of those statements sound familiar to you? Many people who
have cancer in their family wonder how it is being caused and how it
might impact their own health and screening as well as for their family
members and children. They might also want to keep in touch with new
developments in cancer genetics and treatment, topics that are in the
general media and health community with increasing frequency.
What are Registries?
Registries are one way to achieve this by keeping families with
cancer in touch and by collecting information to better understand
cancer development, ultimately to improve care for those at risk.
There are two main types of registries: population-based and
clinic-based. Population-based registries collect information across a
larger range of patients and are usually operated by state governments
or other public organizations. Clinic-based registries typically obtain
patient information from high-risk clinics, and therefore attract
patients who are more likely to be at risk for hereditary cancer or have
an identified gene mutation in their family.
Registries are usually free to join and in most cases involve filling
out a detailed questionnaire, although sometimes blood and/or tumor
tissue samples may be requested. They are able to link participants with
ongoing research studies to investigate cancer prevention and
treatment, and keep individuals up-to-date on newly available
information in the field of cancer genetics. Researchers working with
registries hope that this gathered information will lead to improved
personalized risk assessment, testing, screening and treatment for
There are now more registries focusing on minority populations, which
are traditionally under-represented in research studies for cancer.
Registries are able to notify individuals if they are eligible for
certain research studies based on their medical or family history of
cancer, or if new therapies or genetic tests come available that might
be applicable to them. This information will be helpful not only to
those who have a personal or family history of cancer, but also to the
Registries Support Research
Already, several registries have used such information to learn more
about how genes and environment lead to cancer. Some registries are
closely tied with research studies that are looking at characteristics
of certain cancers in individuals who carry a gene mutation for
hereditary cancer. This includes families with hereditary breast and
ovarian cancer and hereditary colon cancer.
The goal is to eventually develop new therapies and screening
measures that are specific to those cancers. For example, research has
recently found that individuals diagnosed with colon cancer that
demonstrates DNA mismatch repair are less likely to respond to a
standard chemotherapy called 5-fluorouracil (5-FU). This is likely to
impact the treatment for colon cancer patients who have Lynch syndrome,
which is a hereditary cancer syndrome caused by a mutation in a DNA
mismatch repair gene.
For women with breast or ovarian cancer who carry a BRCA1 or BRCA2
gene mutation, research is ongoing to determine whether PARP inhibitors
are a more effective treatment for these types of cancers.
Registries Important to Communication for Patients and Families
Now more than ever, family members are becoming more open with one
another and sharing information about their health including cancer and
genetic testing. This is especially true as we are learning more about
cancer and developing interventions and preventative measures for
Registries are an important tool in this effort, as well as a great
resource for communicating information to families from the cancer
Interested in learning more about a specific registry?
NCI Registry Resource
Family Cancer Genetics Network
Facing Our Risk, of Cancer Empowered resource for registries and ongoing research pertaining to breast and ovarian cancer
Collaborative Group of the Americas on Inherited Colorectal Cancer: Find a registry