Lynch Syndrome: Hereditary Cancer Risk in Minority Populations
Based on the presentation by Michael J. Hall, MD, MS, Fox Chase Cancer Center, Philadelphia, Pennsylvania
- African Americans are under-tested for Lynch syndrome despite the higher incidence of early-onset disease
- Education of minority populations and clinicians is key to improving the utilization of genetic testing and management of hereditary cancer risk
Genetic mutations in cancer-associated genes are surprisingly common and are found in people of all races and ethnicities. Early identification of genetic cancers is important to allow prevention through screening, chemoprevention, and protective surgeries. Ideally, genetic testing should be integrated with family history and environmental risk to allow physicians to better counsel patients on their risk of cancer and strategies for prevention.
Lynch syndrome is the most common hereditary cancer risk syndrome and occurs in as many as 1 in 300 people, including all races and ethnic groups.1 Mutations in several genes involved in DNA mismatch repair (MMR) have been linked to Lynch syndrome, including MLH1, MSH2, MSH6, and PMS2.2 Lynch syndrome is associated with elevated risk for several cancers, including colorectal cancer, endometrial cancer, ovarian cancer, and gastric cancer. Cancer risk varies by the gene mutated and studies are ongoing to determine appropriate preventive measures. Current recommendations for management of Lynch syndrome include earlier initiation and more frequent utilization of colonoscopy, pelvic exams, uterine biopsy, upper endoscopy, urine cytology, and hysterectomy.3
Racial disparity in genetic testing is an important issue and has been studied primarily in relation to BRCA1/2 risk assessment. Compared to white populations, African American populations are less aware of genetic risk and the benefits of testing.4,5 Clinicians were also less likely to discuss genetic testing with African American women, leading to reduced utilization of risk-reducing prophylactic surgery.6 Lack of health insurance and access to risk-reducing interventions further compounds existing disparities in genetic testing for underserved racial groups.5 A study of 51 African American families with Lynch syndrome reported that the cancer risk for this patient subgroup was similar to that of non-African American individuals, and found a high rate of genetic variants of uncertain meaning in MMR genes—a consequence of limited testing in the African American population.7
A number of factors are lessening disparities in genetic testing. Awareness of genetic testing and prophylactic measures has greatly improved due to celebrities sharing their personal experiences with the public. In addition, the cost of genetic testing continues to decline due to competition and better insurance coverage. Universal testing protocols for Lynch syndrome in all patients with colorectal cancer are now supported by the National Comprehensive Cancer Network (NCCN) guidelines and help to reduce provider, patient, and sociocultural barriers to genetic testing.3 Future efforts should focus on increasing the awareness and use of genetic testing in African American populations.
Conclusions: Steps to overcome racial disparities in cancer care include education, prevention, screening, early detection and diagnosis, early treatment, focus on minority populations in clinical research, and improved access to care. The role of genetic testing in selected circumstances must be understood by both healthcare providers and patients.
- Lynch Syndrome. www.cancer.net/cancer-types/lynch-syndrome/cilynch-syndromeprinter. Accessed August 27, 2017.
- Cohen SA, Leininger A. The genetic basis of Lynch syndrome and its implications for clinical practice and risk management. Appl Clin Genet. 2014;7:147-158.
- National Comprehensive Cancer Network. Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Colorectal. Version 2.2017. www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf. Accessed August 27, 2017.
- Jones T, McCarthy AM, Kim Y, Armstrong K. Predictors of BRCA1/2 genetic testing among Black women with breast cancer: a population-based study. Cancer Med. 2017;6(7):1787-1798.
- Hall MJ, Olopade OI. Disparities in genetic testing: thinking outside the BRCA box. J Clin Oncol. 2006;24(14):2197-2203.
- Cragun D, Weidner A, Lewis C, et al. Racial disparities in BRCA testing and cancer risk management across a population-based sample of young breast cancer survivors. Cancer. 2017;123(13):2497-2505.
- Guindalini RSC, Win AK, Gulden C, et al. Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome. Gastroenterology. 2015;149(6):1446-1453.
Table of Contents
- Racial Disparities in Prostate Cancer in 2017
- Breast Cancer in African Americans: Opportunities for Reducing Disparities
- Cervical Cancer Update 2017
- Lynch Syndrome: Hereditary Cancer Risk in Minority Populations
This educational activity is specifically designed to meet the needs of internists, general practitioners, surgeons, obstetricians/gynecologists, urologists, gastroenterologists, and other healthcare providers.
After successful completion of this educational activity, participants should be able to:
- Employ current evidence-based best practices regarding the utilization of diagnostic tools for patients with prostate cancer
- Assess the implications of disparities on the diagnosis of patients with breast cancer and utilize strategies to overcome these disparities to improve outcomes
- Integrate recent data regarding the potential influence of racial disparities on the diagnosis and, ultimately, clinical outcomes of patients with cervical cancer
- Evaluate the implications of disparities on screening and diagnosis for patients with Lynch syndrome
This educational activity is supported by grants from Astellas; Lilly USA, LLC; and Merck and Co, Inc.
prIME Oncology is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.
prIME Oncology designates this enduring activity for a maximum of 1.0 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Each newsletter may provide the following credits:
- Prostate Cancer: 0.25
- Breast Cancer: 0.25
- Cervical Cancer: 0.25
- Lynch Syndrome: 0.25
This activity is provided by prIME Oncology.
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A link to the posttest is available on the newsletter page.
In order to receive credit, participants must successfully complete the online posttest with 75% or higher.
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Dr Brown has disclosed that she has no relevant financial relationships to report. She has agreed to disclose any unlabeled/unapproved uses of drugs or products referenced in her presentation.
Dr Burnett has disclosed that he has received consulting fees from Astellas, Auxillium, Inc., Genomic Health Inc., Reflexonic LLC, and Vivus. He also received contracted research fees from American Medical Systems/Boston Scientific, Coloplast, Endo Pharmaceuticals, Medispec, and Pfizer. He has agreed to disclose any unlabeled/unapproved uses of drugs or products referenced in his presentation.
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Dr Mitchell has disclosed that she has received fees for participation in advisory or review activities from Novartis. She has agreed to disclose any unlabeled/unapproved uses of drugs or products referenced in her presentation.
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