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2023 ACMG Annual Clinical Genetics Meeting Digital ...
BRCA1 Germline Variant Driving a Case of Colon Can ...
BRCA1 Germline Variant Driving a Case of Colon Cancer
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Pdf Summary
This case study presents an 89-year-old female patient with no personal history of cancer but a family history of esophageal and lung cancer. During a colonoscopy, a mass was discovered at the hepatic flexure and later resected. Pathology results indicated invasive colonic adenocarcinoma, with high microsatellite instability (MSI) and loss of MLH1 and PSM2 expression. The tumor was also found to have a germline BRCA1 variant, along with pathogenic alterations in KRAS, BRAF, PTEN, and TP53. The tumor mutational burden (TMB) was high, and copy number variant (CNV) analysis revealed significant gains in chromosomes 7 and 8q. The study suggests that the BRCA1 variant may have driven the development of colon cancer in this case, and it highlights the potential therapeutic implications, including the use of immune checkpoint inhibitors and avoiding certain treatments due to contraindications with specific mutations. The study concludes that this case represents a novel presentation of colon cancer associated with a germline BRCA1 variant previously associated with hereditary breast and ovarian cancer. Overall, this case adds to the understanding of the role of BRCA1 mutations in colorectal cancer and suggests that BRCA1 may serve as an important marker for targeted therapies in this disease.
Asset Subtitle
Presenting Author - Francesco E. Sautto, BS; Co-Author - Roy Khalife, MS; Co-Author - Carl Colton, MD; Co-Author - Domenico Coppola, MD, FASCP, FCAP; Co-Author - Anthony M. Magliocco, MD;
Meta Tag
Cancer Cytogenetics
Cancer Syndromes
Clinical Applications of Molecular Cytogenetics
Clinical Cytogenetics
Cytogenetics
Genome sequencing
Identification of Disease Genes
Molecular Cytogenetics
Molecular Pathophysiology
Oncogenesis
Variant Detection
Co-Author
Roy Khalife, MS
Co-Author
Carl Colton, MD
Co-Author
Domenico Coppola, MD, FASCP, FCAP
Co-Author
Anthony M. Magliocco, MD
Presenting Author
Francesco E. Sautto, BS
Keywords
colonoscopy
invasive colonic adenocarcinoma
BRCA1 variant
KRAS alterations
BRAF alterations
TP53 alterations
tumor mutational burden
copy number variant analysis
immune checkpoint inhibitors
targeted therapies
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