Hereditary Gastrointestinal Cancer Panel
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چکیده
The panel covers genes associated with hereditary colorectal cancer syndromes, familial pancreatic cancer, hereditary diffuse gastric cancer and gastrointestinal stromal tumors. Also other syndromes associated with increased risk of gastrointestinal cancer are covered. The Hereditary Gastrointestinal Cancer Panel is suited for detecting heritable germline mutations and may not be used for the detection of somatic mutations in tumor tissue. This comprehensive Panel includes Hereditary Colorectal Cancer and Hereditary Pancreatic Cancer Panels. All genes in this Panel are included in the Comprehensive Hereditary Cancer Panel.
منابع مشابه
Advantages and Some Remaining Challenges in Hereditary Gastrointestinal Cancer Panel Testing
Colorectal cancer affects 1 in 20 men and women in their lifetime. About 30% of these cases have been shown to be familial while only about 5% are associated with a highly penetrant hereditary colon cancer syndrome. In many familial cases, however, no mutation in the commonly implicated CRC genes is found. With the development of next-generation sequencing, testing laboratories are now able to ...
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We wanted to implement an NGS strategy to globally analyze hereditary cancer with diagnostic quality while retaining the same degree of understanding and control we had in pre-NGS strategies. To do this, we developed the I2HCP panel, a custom bait library covering 122 hereditary cancer genes. We improved bait design, tested different NGS platforms and created a clinically driven custom data ana...
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Medullary carcinoma has long been recognized as a subtype of colorectal cancer associated with microsatellite instability and Lynch syndrome. Gastric medullary carcinoma is a very rare neoplasm. We report a 67-year-old male who presented with a solitary gastric mass. Total gastrectomy revealed a well-demarcated, poorly differentiated carcinoma with an organoid growth pattern, pushing borders, a...
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Background Extensive clinical and genetic heterogeneity of inherited cancers has allowed multi-gene panel testing to become an efficient means for identification of patients with an inherited predisposition to a broad spectrum of syndromic and nonsyndromic forms of cancer. This study reports our experience with a 27-gene inherited cancer panel on a cohort of 630 consecutive individuals referred...
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Gastrointestinal cancer is one of the major causes of death worldwide. Hereditary gastrointestinal cancer syndromes constitute about 5-10% of all cancers. About 20-25% of undiagnosed cases have a possible hereditary component, which is not yet established. In the last few decades, the advance in genomics has led to the discovery of multiple cancer predisposition genes in gastrointestinal cancer...
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تاریخ انتشار 2017