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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Looking beyond Cancer Risk: Additional Implication ...
Looking beyond Cancer Risk: Additional Implications of Hereditary Cancer Testing
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Pdf Summary
This study evaluated the prevalence of pathogenic variants (PVs) in genes with autosomal recessive (AR) risk on multigene cancer panels. The analysis included 120,701 patients who underwent multigene panel testing (MGPT) for hereditary cancer predisposition. Among the tested genes, PVs were most commonly found in BRCA/Fanconi anemia pathway genes, accounting for 40.5% of identified PVs. Other commonly seen PVs were in MUTYH (22.1%), Lynch syndrome genes (10.1%), ATM (10%), MITF (5.7%), and NTHL1 (4.7%). Overall, 6.0% of patients undergoing MGPT had a PV in at least one gene with AR risk association.<br /><br />Significantly, over half of the patients with a PV in a gene with AR risk were of reproductive age. This highlights the importance of discussing reproductive risks and making informed reproductive decisions for individuals found to have PVs in these genes. The study also noted that PVs were identified in other genes that confer AR risk, such as NBN, MSH3, SDHA/SDHB, LZTR1, and FH. Healthcare providers specializing in cancer risk and dominant diseases should be aware of and discuss the recessive risks associated with hereditary cancer testing to provide appropriate genetic counseling.<br /><br />This study provides valuable insights into the prevalence of PVs in genes with AR risk on multigene cancer panels. The findings emphasize the need for comprehensive genetic testing and counseling that includes discussions of both dominant and recessive risks for individuals considering hereditary cancer testing.
Asset Subtitle
Submitter Only - Urmi Sengupta, PhD; Co-Author - Laura Westbrook, MS, CGC; Co-Author - Katherine L. Howard, LGC, CGC, MSGC; Co-Author - Angelica Doumak, MS, CGC; Co-Author - Jeffrey N. Weitzel, MD; Co-Author - Youbao Sha, PhD, FACMG; Presenting Author - Melissa K. Maisenbacher, MS, CGC;
Meta Tag
Cancer Syndromes
Counseling
Genetic Testing
Risk Assessment
Variant Detection
Co-Author
Laura Westbrook, MS, CGC
Co-Author
Katherine L. Howard, LGC, CGC, MSGC
Co-Author
Angelica Doumak, MS, CGC
Co-Author
Jeffrey N. Weitzel, MD
Co-Author
Youbao Sha, PhD, FACMG
Presenting Author
Melissa K. Maisenbacher, MS, CGC
Submitter Only
Urmi Sengupta, PhD
Keywords
pathogenic variants
autosomal recessive
multigene cancer panels
BRCA/Fanconi anemia pathway
MUTYH
Lynch syndrome genes
ATM
MITF
NTHL1
reproductive age
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