Hereditary Tumors

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Hereditary gynecological tumors associated with Peutz-Jeghers syndrome (Review)

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disease that is characterized by gastrointestinal hamartomatous polyposis and mucocutaneous melanin spots. The tumor suppressor gene, STK11/LKB1, which is located on chromosome 19p13.3, has been reported to be responsible for this condition. PJS is complicated by benign and malignant tumors of various organs and complications from rare disea...

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Hereditary Colorectal Tumors: A Literature Review on MUTYH-Associated Polyposis

MAP (MUTYH-associated polyposis) is a syndrome, described in 2002, which is associated with colorectal adenomas, with enhanced colorectal carcinogenesis. This review synthesizes the available literature on MAP and outlines its pathogenesis, association with colorectal tumorigenesis, screening, treatment, and the subtle differences between it and its close cousins-FAP and AFAP. The preponderance...

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Familial Catecholamine-Secreting Tumors - Three Distinct Families with Hereditary Pheochromocytoma

Phaeochromocytomas (PHEOs) and paragangliomas (PGLs) are catecholamine-secreting tumors, that arise from chromaffin cells of the adrenal medulla and extra-adrenal sites. Extra-adrenal phaeochromocytomas are called paragangliomas (Landers et al., 2005). The Prevalence of these tumors is 1:4500 and 1:1700 and an annual incidence of 3-8 cases per 1 million per year in the general population. PHEOs...

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Hereditary Risk Evaluation for Borderline Ovarian Tumors Based on Immunohistochemistry

OBJECTIVES Borderline ovarian tumors (BOT) are premalignant lesions. Approximately 10% of all epithelial ovarian cancers are known to be hereditary with hereditary breast and ovarian cancer (HBOC) accounting for approximately 90% of cases; the remaining 10% are attributable to Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC). The aim of our study is to estimate th...

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Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients.

A replication error (RER) phenotype has been documented both in sporadic colorectal tumors and in tumors from patients with hereditary nonpolyposis colorectal cancer (HNPCC). In the current study 8 of 49 (16%) sporadic colorectal cancers (CRCs) and 25 of 29 (86%) CRCs from HNPCC patients were found to be RER+. All 9 (100%) CRCs from HNPCC patients with germline mutations of the mismatch repair ...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1992

ISSN: 1468-6244

DOI: 10.1136/jmg.29.5.360