نتایج جستجو برای: hereditary cancer syndrome
تعداد نتایج: 1562314 فیلتر نتایج به سال:
Families of tumor-suppressor genes, such as those involved in homologous recombination or mismatch repair, contain individual genes implicated in hereditary cancer syndromes. Collectively, such groupings establish that inactivating germline changes in genes within pathways related to genomic repair can promote carcinogenesis. The hypoxia pathway, whose activation is associated with aggressive a...
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...
Background: There have been many papers on the diagnostic criteria for specific hereditary cancer susceptibility syndromes and the likelihood that an individual has a germline mutation in one of the various cancer susceptibility genes. To assist health care professionals in deciding when a cancer genetics consultation is appropriate, available reports were critically reviewed in order to develo...
OBJECTIVE Most individuals who learn about hereditary cancer manage well, but identification of subgroups who find this knowledge burdening would allow psychosocial intervention. The objective of the study was to assess sense of coherence (SOC) in individuals with Lynch syndrome with comparison to a general population and correlation to self-concept. METHODS A total of 345 individuals with Ly...
BACKGROUND Sebaceous gland tumors are a rare type of neoplasm. In some cases they have been associated with visceral tumors in patients with Muir-Torre syndrome, a hereditary form of nonpolyposis colorectal cancer. The aim of this study was to review the diagnosis and follow-up of a series of patients with sebaceous gland tumors to assess how many met the criteria for Muir-Torre syndrome. PAT...
Conorenal syndrome or Saldino Mainzer is a rare hereditary disease characterized by cone-shaped epiphyses of the phalanges, retinitis pigmentosa and renal manifestations (nephropathy). Case report: Herein we report an eight years old girl with a collection of signs and symptoms compatible with conorenal syndrome. She first presented with dactylitis, dysuria, frequency, discolored urine and pro...
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