Cancer Genomics Epidemiology

Background 

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’s Cancer Genomics Program webpage for additional information regarding what Michigan and other states are working on as part of this program.

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.

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 increasing the appropriate utilization of genetic counseling and testing for HBOC and LS.  Other surveillance-based outcomes of these activities include: 1) improving data on hereditary cancer burden and utilization of cancer genetic services, 2) increase the proportion of individuals who report that they are aware of their family history of cancer and report having discussed their associated cancer risk with a health care provider, and 3) increase the proportion of individuals at high-risk for hereditary cancer who are counseled and utilize risk management strategies.

Epidemiology Summary 

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 12% 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 mutations are responsible for 5-10% of all breast cancers and 18-24% of ovarian cancers. BRCA1/2 mutations confer a lifetime risk of 38-87% for breast cancer (compared to 12% within the general population) and 11-39% for ovarian cancer (compared to ~1% within the general population). In addition to breast and ovarian cancers, BRCA mutations also increase lifetime risk of prostate and pancreatic cancers. A BRCA2 mutation can increase the risk the lifetime risk of prostate cancer to 20% (compared to 15% within the general population), with 5-10% of prostate cancers are considered heritable. About 10% of pancreatic cancer are considered heritable, with a BRCA2 mutation increasing the lifetime risk from 1.5% to 2-7%.

Colorectal and endometrial cancers also top the list of the most common cancers in the United States, with an estimated 140,250 cases to be diagnosed in 2018. Approximately 5,000 Michigan residents are diagnosed with colorectal cancer each year and is the second leading cause of cancer deaths in Michigan. It is estimated that 5-10% 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: 52-80% for colorectal cancer, 25-60% for endometrial cancer (in women), and 10-12% 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.

Surveillance Reports

  1. BRCA 1/2 Surveillance in Michigan, 2008-2012 (PDF) 
  2. Gene Expression Profiling (GEP) for Breast Cancer Recurrence Risk Prediction, Surveillance in Michigan, 2008-2012 (PDF)
  • Utilization of Michigan Cancer Genetics Services, 2007-2011: Findings from the BRCA Clinical Genetic Counseling Database
  1. Introduction (PDF)
  2. Patient Demographics (PDF)
  3. Referring Provider (PDF)
  4. Age and Personal History (PDF)
  5. Number of BRCA Tests Over Time (PDF)
  6. Patient Services Over Time (PDF)
  7. Test Results by Personal and Family History (PDF)
  8. Characteristics of Patients Tested (PDF)
  • Cancer Genomics in Michigan: Surveillance Reports 2018-2020
  1. Findings from the Hereditary Cancer Network Database 2016-2017
  2. Genetic Counseling and Testing among Males: Results from the Hereditary Cancer Network Database, 2008-2017
  3. Racial Differences in the Utilization of Genetic Counseling Services among Patients in the Hereditary Cancer Network Database
  4. Geographic Distribution of Select Hereditary Cancers and Genetic Services

Presentations

More publications and presentations related to cancer genomics in Michigan can be found at the Michigan Cancer Genomics Program website.

Links

Links to other sites related to cancer genomics epidemiology:

Cancer Genomics Epidemiology Staff

Cancer Genomics Epidemiologist: Jessica Fritzler, MPH
Chronic Disease Epidemiology Section Manager: Beth Anderson, MPH