Late presentation of cancer in compound heterozygote PMS2 mutation carrier
نویسندگان
چکیده
منابع مشابه
Late presentation of cancer in compound heterozygote PMS2 mutation carrier
Background Turcot syndrome is clinically characterized by the occurrence of primary brain tumors, colorectal cancer and/or accompanying adenomas. It has been described as both an autosomal dominant and recessive condition and mutations in APC, MLH1, MSH2, MSH6 and PMS2 have been reported. Constitutional Mismatch repair (CMMR) deficiency is a variant of Lynch syndrome (LS) associated with bialle...
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ژورنال
عنوان ژورنال: Hereditary Cancer in Clinical Practice
سال: 2011
ISSN: 1897-4287
DOI: 10.1186/1897-4287-9-s1-p38