Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer
| العنوان: | Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer |
|---|---|
| المؤلفون: | Elena Aguirre, Santiago González-Santiago, Leire Andrés, Judith Balmaña, Gemma Llort, Izaskun Rubio, Maria-Isabel Tejada, Cristina Martínez-Bouzas, Eduardo Ibáñez-Feijoo, Hiart Maortua, Pilar Blay |
| المصدر: | Oncology. 91:171-176 |
| بيانات النشر: | S. Karger AG, 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | Adult, 0301 basic medicine, Oncology, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, medicine.medical_specialty, DNA Mismatch Repair, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Neoplasm, Prospective Studies, Prospective cohort study, Retrospective Studies, Gynecology, business.industry, Endometrial cancer, Age Factors, Microsatellite instability, Retrospective cohort study, General Medicine, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch syndrome, Endometrial Neoplasms, DNA-Binding Proteins, MutS Homolog 2 Protein, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, Female, Microsatellite Instability, DNA mismatch repair, MutL Protein Homolog 1, business |
| الوصف: | Objective: Endometrial cancer is the second most frequent neoplasm in women with Lynch syndrome (LS). We sought to assess whether analyzing women with endometrial cancer would identify families with LS not identified with current clinical criteria. Methods: We included women diagnosed with endometrial cancer younger than 50 years and also older if they had a family cancer history associated with LS. In blood samples obtained, we analyzed mutations in mismatch repair (MMR) genes, as well as protein expression by immunohistochemistry and microsatellite instability (MSI) in tumour tissue. Results: A total of 103 patients were enrolled. We detected 14 pathogenic mutations and 4 genetic variants of unknown clinical significance in MMR genes. We found MSI in 41.66% of the women with a pathogenic mutation. In this group, 76.92% showed loss of at least one MMR protein. Women with mutations were younger at diagnosis, but all of them had a family history compatible with LS. Conclusions: Analysis of the MMR genes, in particular MSH6, seems to be appropriate in women with endometrial cancer and a family history of tumours associated with LS. |
| تدمد: | 1423-0232 0030-2414 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51d5e862bb7ff16d1d65905293ee3fc7Test https://doi.org/10.1159/000447972Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....51d5e862bb7ff16d1d65905293ee3fc7 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14230232 00302414 |
|---|