2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Cascade testing with comprehensive multigene panels for hereditary cancer identifies unexpected findings in relatives

Cascade testing with comprehensive multigene panels for hereditary cancer identifies unexpected findings in relatives

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This document provides information on the risk categories and genetic variants found in individuals and their relatives undergoing genetic testing. The risk categories include high risk, moderate risk, low risk, and carrier. Genes with pathogenic variants (PGVs) found in probands and relatives include BRCA1, BRCA2, PALB2, MLH1, MSH2, MSH6, MUTYH, TP53, and more. The test results show that 38.4% of tested relatives were positive for familial variants only, while 4% were positive for both familial and other variants not identified in the proband. There were also 0% and 2% of relatives who were negative for familial variant(s) but positive for other variant(s) in the same or different genes as the proband. Additionally, 51.4% of relatives were negative for both familial and other variants. The characteristics of all relatives include gender, self-reported ethnicity, age at testing, degree of relationship, number of PGVs in the proband, and reported personal history of cancer. Most common cancers reported in the relatives include breast, prostate, skin, melanoma, colorectal, and uterine/endometrial. Characteristics of relatives with unexpected findings include gender, self-reported ethnicity, age at testing, degree of relationship, and personal history of cancer. The breakdown of genetic test results in the relatives shows that 6.2% of relatives had unexpected PGVs.

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Co-Author - Brandie Heald, MS; Co-Author - Heather Hampel, MS; Co-Author - Sarah M Nielsen, MS; Co-Author - Sara L. Bristow, PhD; Co-Author - Edward D. Esplin, MD, PhD, FACMG, FACP; Co-Author - Robert L. Nussbaum, MD; Presenting Author - Daniel E. Pineda-Alvarez, MD, FACMG;

Meta Tag

Cancer Syndromes

Counseling

Genetic Testing

NextGen Sequencing

Co-Author Brandie Heald, MS

Co-Author Heather Hampel, MS

Co-Author Sarah M Nielsen, MS

Co-Author Sara L. Bristow, PhD

Co-Author Edward D. Esplin, MD, PhD, FACMG, FACP

Co-Author Robert L. Nussbaum, MD

Presenting Author Daniel E. Pineda-Alvarez, MD, FACMG

Keywords

risk categories

genetic variants

genetic testing

BRCA1

BRCA2

PALB2

MLH1

MSH2

MSH6

MUTYH