Cancer Genomics Epidemiology
The Michigan Department of Health and Human Services, in collaboration with the Centers for Disease Control and Prevention, has created a multi-faceted, comprehensive cancer genomics program that encompasses public health surveillance, health education of providers, and policy interventions with health insurance plans.
Please visit the CDC Awards Funding to Support Cancer Genomics website for additional information regarding what Michigan and other states are working on as part of this program.
The ultimate long-term objective of these activities is to reduce the incidence and mortality of hereditary cancers (specifically breast, ovarian, colorectal and endometrial cancer) by overcoming barriers and advancing health system changes to promote cancer genomics best practices. These practices include the use of evidence-based guidelines for the screening (genetic counseling and testing) and management of hereditary cancer syndromes.
Two hereditary cancer syndromes are the primary focus areas of Michigan's Cancer Genomics Program: Hereditary Breast and Ovarian Cancer (HBOC), which is due to a BRCA1/2 gene mutation, and Lynch Syndrome (LS), which is due to a mutation in the DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, PMS2, and EPCAM). Lynch Syndrome is implicated in the development of colorectal, endometrial, ovarian, and other types of cancers.
Being diagnosed with breast cancer at a young age (at or before 50 years old) and ovarian cancer at any age can be indicative of a hereditary cancer syndrome. Breast cancer is the second most common cause of death among young women aged 20-49. Approximately 11% of all new breast cancer cases in the US are found in women younger than 45 years old. BRCA1 and BRCA2 mutations are dominant germline mutations that are associated with HBOC. BRCA1/2 muations are responsible for 5-10% of all breast cancers and 18-24% of ovarian cancers. BRCA1/2 muations confer a lifetime risk of 40-80% for breast cancer (compared to 12% within the general population) and 11-40% for ovarian cancer (compared to ~1% within the general population). In addition to breast and ovarian cancers, BRCA mutations also increase lifetime riks of prostate and pancreatic cancers.
Colorectal and endometrial cancers also top the list of the most common cancers in the United States. Over 5,000 Michigan residents are diagnosed with colorectal cancer each year. It is estimated that 3% of colon cancers may be attributed to Lynch Syndrome (LS). LS gene mutations are also inherited in an autosomal dominant fashion; thus, an individual has a 50% chance of inheriting a MMR gene mutation from an affected parent. Affected individuals will have substantial increases in their lifetime risk of LS-related cancers: 52-82% for colorectal cancer, 25-60% for endometrial cancer (in women), and 4-12% for ovarian cancer. Having an age of diagnosis at less than 50 years old is also more common for LS-related colorectal and endometrial cancers.
Cancer Genomics Epidemiology Staff
Cancer Genomics Epidemiologist: Jessica Fritzler, MS
Chronic Disease Epidemiology Section Interim Manager: Beth Anderson, MS
What We Do
Our goal is to develop and implement a model for surveillance of inherited cancer and use of relevant genetic tests. Through the use of multiple data sets, including the Michigan Cancer Surveillance Program's registry data and clinical genetics data, we are monitoring the prevalence of disease, the use of clinical genetic services and the quality of care that is provided.
- A 2013 Michigan Behavioral Risk Factor Surveillance System (MiBRFSS) Surveillance Brief focusing on breast and ovarian cancer family history and genetic counseling among Michigan women can be found at the MiBRFSS website.
- Breast and Ovarian Cancer Genetic Counseling Among Michigan Women: Data from the 2011 Michigan Behavioral Risk Factor Survey (PDF)
- Cancer Genomics in Michigan: Surveillance Report 2012
- Utilization of Michigan Cancer Genetics Services, 2007-2011: Findings from the BRCA Clinical Genetic Counseling Database
- The Hereditary Cancer Network Database: The Journey So Far (PDF)
- Examining Disparities in Access to Breast and/or Ovarian Cancer Genetic Risk Assessment in "High Incidence Counties" versus "High Usage Counties" (PDF)
- Innovative Utlization of a State Cancer Registry to Contact Young Breast Cancer Survivors and their High-Risk Female Relatives to Increase Breast Cancer Screening (PDF)
- Fear of Cancer Recurrence, Perceived Risk, Self-Efficacy and Barriers to Screening in Young Breast Cancer Survivors (PDF)
- Mutation Rates and Reasons for Declining BRCA Genetic Testing Among Women with Breast or Ovarian Cancer (PDF)
- Timing of BRCA Genetic Testing and Extent of Breast Cancer Surgery in Women with Deleterious Mutations (PDF)
- Family Notification and Cascade Screening After BRCA Genetic Testing (PDF)
- Examining Statewide Patterns in Collection of Family History Variables for the Michigan Cancer Surveillance Program (PDF)
- Growth of BRCA1/2 Genetic Testing in Michigan, 2008-2011 (PDF)
- Utilization of Cancer Genetic Services by Young Female Breast Cancer Survivors (PDF)
- Reasons for Declining BRCA Testing After Genetic Counseling (PDF)
- Using State Cancer Registries to Evaluate Potentially Hereditary Cancers (PDF)
More publications and presentations related to cancer genomics in Michigan can be found at the Michigan Cancer Genomics Program website.
Links to other sites related to cancer genomics epidemiology: