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Germline Variant With Somatic Amplification in a Woman With Inflammatory Diseases and Myelodysplastic Syndrome.
Ann Intern Med
January 2025
Center for Hematology and Regenerative Medicine, Department of Medicine Huddinge, Karolinska Institutet, and Department of Hematology, Karolinska University Hospital, Stockholm, Sweden.
Germline variants detected by multigene panel testing in patients with suspected hereditary breast cancer.
Surg Today
January 2025
Department of Surgery, Division of Breast and Endocrine Surgery, School of Medicine, Hyogo Medical University, 1-1 Mukogawa-cho, Nishinomiya, Hyogo, 663-8501, Japan.
Purpose: To clarify the status of multigene panel testing for suspected hereditary breast cancer in our institute, and disclose the characteristics of the variants detected.
Methods: This was a retrospective study of individuals who underwent next-generation sequencing-based multigene panel testing at our institute to investigate hereditary genetic variants for suspected hereditary breast cancer.
Results: We identified 36 women who underwent multigene panel testing: 8 (22.
promoter hypermethylation and Lynch Syndrome: When to test for constitutional epimutations of gene?
Tumori
January 2025
IEO, European Institute of Oncology IRCCS, Division of Cancer Prevention and Genetics, Milan, Italy.
Lynch syndrome is a genetic condition predisposing to cancer, particularly colorectal cancer and endometrial cancer, due to germline mutations in MisMatch Repair genes. More rarely, Lynch syndrome is the result of a constitutional promoter methylation. This review summarizes the current knowledge about the role of this epigenetic mechanism in the Lynch syndrome.
View Article and Find Full Text PDFColorectal cancer in Lynch syndrome families: consequences of gene germline mutations and the gut microbiota.
Orphanet J Rare Dis
January 2025
Senior Department of Gastroenterology, The First Medical Center of Chinese PLA General Hospital, Beijing, 100853, China.
Background: Lynch syndrome (LS)-associated colorectal cancer (CRC) always ascribes to pathogenic germline mutations in mismatch repair (MMR) genes. However, the penetrance of CRC varies among those with the same MMR gene mutation. Thus, we hypothesized that the gut microbiota is also involved in CRC development in LS families.
View Article and Find Full Text PDFWhole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome.
NPJ Genom Med
January 2025
Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.
Multigene panel tests (MGPTs) revolutionized the diagnosis of Lynch syndrome (LS), however noncoding pathogenic variants (PVs) can only be detected by complementary methods including whole genome sequencing (WGS). Here we present a DNA-, RNA- and tumor tissue-based WGS prioritization workflow for patients with a suspicion of LS where MGPT detected no LS-related PV. Among the 100 enrolled patients, MGPT detected 28 simple PVs and an additional 3 complex PVs.
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