Breast cancer in an MSH2 gene mutation carrier
| Autor: | Winand N.M. Dinjens, Ronald Schutte, Anja Wagner, Monique M. C. P. Hoogmans, Pieter J. Westenend |
|---|---|
| Přispěvatelé: | Pathology, Clinical Genetics |
| Rok vydání: | 2005 |
| Předmět: |
Heterozygote
congenital hereditary and neonatal diseases and abnormalities Colorectal cancer Loss of Heterozygosity Breast Neoplasms Biology MLH1 Pathology and Forensic Medicine Neoplasms Multiple Primary Loss of heterozygosity Breast cancer SDG 3 - Good Health and Well-being Biomarkers Tumor medicine Humans neoplasms Genetic Carrier Screening Carcinoma Ductal Breast nutritional and metabolic diseases Microsatellite instability DNA Neoplasm Middle Aged medicine.disease Colorectal Neoplasms Hereditary Nonpolyposis digestive system diseases MSH6 MutS Homolog 2 Protein MSH2 Mutation Cancer research Female DNA mismatch repair Microsatellite Repeats |
| Zdroj: | Human Pathology, 36(12), 1322-1326. W.B. Saunders |
| ISSN: | 0046-8177 |
| DOI: | 10.1016/j.humpath.2005.08.025 |
| Popis: | A 49-year-old woman presented with breast cancer. She is a member of a family with the hereditary nonpolyposis colorectal cancer syndrome for which a 2-base pair deletion in exon 11 of the mismatch repair gene MSH2 (c1705_1706 delGA) had been identified. Breast cancer is rare in the hereditary nonpolyposis colorectal cancer syndrome. Microsatellite analysis of the tumor showed a microsatellite instable pattern for markers Bat25, Bat26, and Bat40, and no changes for markers D2S123 and D5S346, a so-called microsatellite instability-high pattern. Immunohistochemical staining for the mismatch repair enzymes MSH2 and MSH6 was negative, whereas the tumor cells were positive for MLH1, a pattern suggestive for biallelic MSH2 gene inactivation. We tested the tumor for loss of heterozygosity of the MSH2 gene and found loss of the wild-type MSH2 allele. These data strongly suggest that the MSH2 gene was involved in the development of this breast tumor. |
| Databáze: | OpenAIRE |
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