نتایج جستجو برای: hereditary cancer syndrome
تعداد نتایج: 1562314 فیلتر نتایج به سال:
Background: Hereditary colorectal cancer (CRC) accounts for about 5% of the total incidence of CRC. During the last decades, there have been great advances in the research of hereditary CRC in China. Summary: This review mainly focuses on advances of the genetic basis, clinicopathological features, diagnosis, chemoprevention and treatment of hereditary CRC in China. Key Message: Hereditary CRC ...
There is increasing evidence suggesting that short telomeres and subsequent genomic instability contribute to malignant transformation. Telomere shortening has been described as a mechanism to explain genetic anticipation in dyskeratosis congenita and Li-Fraumeni syndrome. Since genetic anticipation has been observed in familial breast cancer, we aimed to study telomere length in familial breas...
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 develop...
Lynch syndrome (hereditary non-polyposis colorectal cancer) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. The discovery of these genes, 15 years ago, has led to the identification of large numbers of affected families. In April 2006, a workshop was...
BACKGROUND We investigated the prevalence of Lynch syndrome as a hereditary cause of colon cancer in the young Jamaican colorectal cancer (CRC) population. METHODS We identified patients aged 40 years or younger in whom primary CRC was diagnosed at the University Hospital of the West Indies from January 2004 to December 2008. We reviewed the medical records and hematoxylin and eosin (H&E)-sta...
Population-based studies indicate that approximately 35% of an individual’s risk of developing colorectal cancer (CRC) is due to inherited genetic factors (Lichtenstein et al. 2000). Indeed, approximately 50,000 individuals diagnosed with CRC in the United States each year will have at least one other family member with CRC (Kaz & Brenthall, 2006). Classically, genetic susceptibility to CRC is ...
Lynch syndrome (LS) is a hereditary cancer that accounts for 3% of all new colorectal (CRC) cases. Patients carry germline pathogenic variant in one the mismatch repair (MMR) genes (MLH1, MSH2, MSH6 or PMS2), which encode proteins involved post-replicative proofreading and editing mechanism. The clinical presentation LS highly heterogeneous, showing high variability age at onset penetrance canc...
The Brazilian National Regulatory Agency for Private Health Insurance and Plans has recently published a technical note defining the criteria for the coverage of genetic testing to diagnose hereditary cancer. In this study we show the case of a patient with a breast lesion and an extensive history of cancer referred to a private service of genetic counseling. The patient met both criteria for h...
alport syndrome is a progressive hereditary nephritis leading to renal failure. nearly all of the documents declare that alport syndrome is inherited as x-linked dominant trait and reports of autosomal inheritance form is very rare. this paper presents an iranian large alport family with autosomal recessive inheritance. in our patients alport disease was confirmed with electron microscopic stud...
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