دورية أكاديمية
Clinical characteristics and genetic analysis of a case of a patient with familial hereditary breast cancer: a case report.
| العنوان: | Clinical characteristics and genetic analysis of a case of a patient with familial hereditary breast cancer: a case report. |
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| المؤلفون: | Liu Y; Department of Surgical Oncology, First Affiliated Hospital, Bengbu Medical College, Bengbu, Anhui, China., Mao J; Department of Pathology, Jining No. 1 People's Hospital, Jining, 272000, Shandong, China., Xiang L; Department of Pathology, Jining No. 1 People's Hospital, Jining, 272000, Shandong, China., Zhang X; Department of Pathology, Jining No. 1 People's Hospital, Jining, 272000, Shandong, China., Qu Z; Department of Pathology, Jining No. 1 People's Hospital, Jining, 272000, Shandong, China. quzhen66@126.com.; Department of Hepatobiliary and Pancreas, The Affiliated Hospital of Qingdao University, Qingdao University, Qingdao, Shandong, China. quzhen66@126.com. |
| المصدر: | Journal of medical case reports [J Med Case Rep] 2024 Aug 14; Vol. 18 (1), pp. 368. Date of Electronic Publication: 2024 Aug 14. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947 (Electronic) Linking ISSN: 17521947 NLM ISO Abbreviation: J Med Case Rep Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: [London] : BioMed Central, [2007- |
| مواضيع طبية MeSH: | Breast Neoplasms*/genetics , Breast Neoplasms*/pathology , Triple Negative Breast Neoplasms*/genetics , Triple Negative Breast Neoplasms*/pathology , Exome Sequencing*, Humans ; Female ; Middle Aged ; Pedigree ; Genetic Predisposition to Disease ; Mutation ; BRCA1 Protein/genetics ; Genetic Testing |
| مستخلص: | Background: Breast cancer has emerged as the foremost cause of female mortality worldwide, with triple negative breast cancer accounting for approximately 10-15% of all breast cancer cases. The triple negative breast cancer family has obvious familial heritability, but no potential pathogenic variation was found in BRCA1/2. Case Presentation: The patient was a 56-year-old woman of Han ethnicity. The clinical characteristics of this patient with breast cancer were summarized, peripheral blood of one normal female and two patients with breast cancer in this family was collected, DNA was extracted, and the potential pathogenic variation was analyzed by whole exome sequencing. The normal female and two patients with breast cancer in this family shared a maternal grandmother. The proband's right breast mass was punctured, and the biopsy showed invasive carcinoma of the right breast, grade II-III, with necrosis. No mutation was found in BRCA1/2 gene test; immunohistochemical of surgical specimens showed triple negative breast cancer. Three mutation types and 17 gene mutation sites were detected through bioinformatics prediction analysis on the basis of co-segregation of genotype and phenotype within the family and whole exome sequencing results. Combined with the Cancer Genome Atlas database comprehensive analysis, the MT1E c.G107A (p.C36Y) mutation may be a potential pathogenic site. Conclusions: Through whole exome sequencing, we identified a total of 17 potential pathogenic mutation loci, none of which have been reported thus far. Therefore, our work expanded the gene mutation spectrum of familial hereditary triple negative breast cancer, which can provide more basis for family genetic counseling. (© 2024. The Author(s).) |
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| معلومات مُعتمدة: | No. ZR2023QH483 Natural Science Foundation of Shandong Province |
| فهرسة مساهمة: | Keywords: MT1E; Hereditary triple negative breast cancer; Whole-exome sequencing |
| المشرفين على المادة: | 0 (BRCA1 Protein) |
| SCR Disease Name: | Breast Cancer, Familial |
| تواريخ الأحداث: | Date Created: 20240813 Date Completed: 20240814 Latest Revision: 20240816 |
| رمز التحديث: | 20240816 |
| مُعرف محوري في PubMed: | PMC11323601 |
| DOI: | 10.1186/s13256-024-04685-y |
| PMID: | 39138583 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1752-1947 |
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| DOI: | 10.1186/s13256-024-04685-y |