Patients with unexplained mismatch repair deficiency are interested in updated genetic testing

Hereditary Cancer in Clinical Practice

Eduardo Vilar¹  Y Nancy You²  Maureen Mork³  Blair Stevens⁴  Sarah Noblin⁵  Jessica Omark⁶  Leslie Dunnington⁷ 

[1] Department of Clinical Cancer Prevention, University of Texas MD Anderson Cancer Center, Houston, TX, USA;Department of Surgical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX, USA;University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX, USA;Department of Clinical Cancer Genetics, University of Texas MD Anderson Cancer Center, Houston, TX, USA;University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX, USA;Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Texas McGovern Medical School, Houston, TX, USA;University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX, USA;Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Texas McGovern Medical School, Houston, TX, USA;Natera, San Carlos, CA, USA;University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX, USA;Department of Pediatrics, University of Michigan Health System Michigan Medicine, Ann Arbor, MI, USA;University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX, USA;Department of Pediatrics, University of Texas McGovern Medical School, Houston, TX, USA;

关键词: Cancer;    Genetic counseling;    Genetic testing;    Lynch syndrome;    Mismatch repair deficiency;    Oncology;    Psychosocial impacts of genetic testing;    Unexplained mismatch repair deficiency;    Updated genetic testing;   

DOI  :  10.1186/s13053-020-00150-1

来源: Springer

【 摘 要 】

BackgroundIndividuals who have colorectal or endometrial cancers displaying loss of immunohistochemical staining of one or more mismatch repair proteins without an identifiable causative germline pathogenic variant have unexplained mismatch repair deficiency (UMMRD). Comprehensive germline genetic testing for Lynch syndrome (LS) includes sequencing and deletion/duplication analysis of MLH1, MSH2, MSH6, and PMS2, deletion analysis of EPCAM, and MSH2 inversion analysis. Updated genetic testing to include elements of comprehensive LS testing not previously completed could further clarify LS status in individuals with UMMRD, allowing for tailored screening guidelines for affected individuals and their family members. However, patient understanding of the potential impact of updated genetic testing for LS is unclear. This study aimed to evaluate the interest in and perceived impact of updated genetic testing among individuals with UMMRD at a tertiary academic center.MethodsA survey evaluating interest in and perceived impact of updated genetic testing was mailed to 98 potential participants. Electronic health record review was completed for all individuals meeting eligibility criteria. Thirty-one individuals responded to the survey.ResultsResults indicate this population is highly interested in updated genetic testing with the perceived impact being primarily for family members to have appropriate genetic testing and screening. Electronic health record review indicates that clinicians have an evolving understanding of causes of UMMRD, representing a potential change in assessment of cancer risk.ConclusionsUpdated risk assessment and genetic counseling with a discussion of the benefits and limitations of germline and somatic genetic testing, is essential as the understanding of UMMRD and genetic testing recommendations for this population evolve.

【 授权许可】

CC BY