Germline MSH6 Mutation in a Patient With Two Independent Primary Glioblastomas
نویسندگان
چکیده
منابع مشابه
Loss of MSH6 and PMS2 immunohistochemical staining in tumour tissue of two individuals with a germline PMS2 mutation
Lynch syndrome is an autosomal dominant cancer predisposition syndrome which is caused by a germline mutation in one of four genes, MLH1, MSH2, MSH6 or PMS2. Individuals with a germline mutation in one of these genes are at increased lifetime risk of colon, endometrial, ovarian, small intestine, renal pelvis and ureter. Less commonly patients may develop biliary tract cancers, gastric and pancr...
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Glioblastomas are the most commonly diagnosed primary human brain tumors. Unfortunately, these cancers are almost uniformly fatal; regardless of treatment, median survival is less than 2 years after diagnosis.20 Current standard of care is maximal safe surgical resection followed by combined adjuvant radiation therapy and chemotherapy with the methylating alkylator agent temozolomide. Nonethele...
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BACKGROUND MLH1 is one of six known genes responsible for DNA mismatch repair (MMR), whose inactivation leads to HNPCC. It is important to develop genotype-phenotype correlations for HNPCC, as is being done for other hereditary cancer syndromes, in order to guide surveillance and treatment strategies in the future. CASE PRESENTATION We report a 47 year-old male with hereditary nonpolyposis co...
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We present a case of an endometrial cancer patient with germline mutation in MutS homolog 6 (MSH6), associated with Lynch syndrome. A 60-year-old Korean woman had a personal history of colon cancer 23 years ago. She also had a family history of endometrial cancer and colon cancer of her sisters and brothers. Immunohistochemistry was negative for MutL homolog 1 (MLH1) and positive for MutS homol...
متن کاملONLINE MUTATION REPORT No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer
Background: The genetic background in breast cancer families with colorectal and/or endometrial cancer is mostly unknown. The functional connection between MSH6 and the known breast cancer predisposition gene product BRCA1 suggests that the MSH6 gene may also play a role in breast cancer predisposition. Methods: We analysed 38 breast cancer families with colorectal and/or endometrial cancer for...
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ژورنال
عنوان ژورنال: Journal of Neuropathology & Experimental Neurology
سال: 2017
ISSN: 0022-3069,1554-6578
DOI: 10.1093/jnen/nlx066