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Preliminary introducing a case of breast cancer with variations in the unconventional genes TNFRSF10B and MAD1L1
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Mohammad Ali Dolati1   , Marzieh Sadat Jamal |
| 1- Kashan University of Medical Sciences |
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Abstract: (17 Views) |
Breast cancer is one of the most common malignancies in women and genetic factors play an important role in its development and progression. We genetically profiled a 36-year-old female patient with a clinical diagnosis of “infiltrating ductal carcinoma of the breast” with a positive family history of cancer using a comprehensive oncogenic panel based on next-generation sequencing (NGS). Bioinformatics analysis revealed two heterozygous variants: MAD1L1:c.1866C>G (p.Phe622Leu): Likely pathogenetic and TNFRSF10B:c.137-144+20del: Pathogenetic.
The clinical-laboratory report and management recommendations from the laboratory included confirmation with Sanger and segregation analysis in family members. In this article, the panel methodology, molecular findings, interpretation according to ACMG guidelines, and a detailed discussion of the biological role and possible association of these genes with cancer prognosis and pathogenesis are presented, and suggestions for clinical follow-up are made. By combining molecular analysis, literature review, comparison with similar cases, and examination of the role of heterozygosity, this article provides a comprehensive picture of the importance of these two mutations in pathogenesis. |
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| Keywords: MAD1L1 gene, TNFRSF10B gene, Cancer panel, Next generation sequencing, ACMG, Breast cancer |
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Full-Text [PDF 607 kb]
(16 Downloads)
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Type of Study: Review |
Subject:
ژنتیک
Received: 2026/06/28 | Accepted: 2026/06/28 | Published: 2026/06/28
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