نتایج جستجو برای: lynch syndrome
تعداد نتایج: 623651 فیلتر نتایج به سال:
Muir-Torre syndrome is characterised by the association of sebaceous tumours of the skin with internal malignancy. In many instances there is a strong family history of cancer and the autosomal dominant mode of inheritance, tumour spectrum, and high incidence of synchronous and metachronous tumours show parallels with the cancer family syndrome or Lynch II syndrome. We report a five generation ...
The identification of gene alterations that predispose individuals to disease has resulted in an explosion in genetic diagnostics. Because diseases like cancer susceptibility may result in debilitating surgery that has physical, emotional, and realized costs, it is important to get the diagnosis right. The obvious solution is to combine simple DNA genotype analysis with evocative phenotype anal...
Background Adherence to colonoscopy recommendations can reduce colorectal cancer (CRC) morbidity and mortality. However, little is known about the use of colonoscopy among persons at risk for Lynch syndrome prior to clinical genetic testing (CGT) and how notification of mutation carrier status affects screening behaviors. The goal of this study was to evaluate colonoscopy use and attitudes towa...
Background Microsatellite instability (MSI) is a hallmark of DNA mismatch repair (MMR) deficiency and is an established screening tool for identifying Lynch syndrome in colorectal cancer populations [1]. However, MSI testing is neither perfectly sensitive nor specific to detect Lynch Syndrome, and germline MMR mutations have been reported in patients with microsatellite stable (MSS) tumors [2]....
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