Advantages and Some Remaining Challenges in Hereditary Gastrointestinal Cancer Panel Testing

TaraMagaPhD MS CGC; LaraBalayMS Ed MS CGC; and BarbaraJungMD

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Advantages and Some Remaining Challenges in Hereditary Gastrointestinal Cancer Panel Testing

机译：遗传性胃肠道癌症专家组测试的优势和尚存的挑战

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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 offer hereditary gastrointestinal panel testing, which allows for the simultaneous sequencing of a much broader set of genes associated with CRC. We discuss the advantages and disadvantages of such testing to inform best clinical practice.

机译：大肠癌一生中会影响到20名男性和女性中的1名。这些病例中约有30％被证明是家族性的，而只有5％与高度渗透性遗传性结肠癌综合症有关。然而，在许多家族性病例中，未发现通常涉及的CRC基因发生突变。随着下一代测序技术的发展，检测实验室现在能够提供遗传性胃肠道检测，从而可以同时测序与CRC相关的更广泛的基因。我们讨论了这种测试的优缺点，以指导最佳临床实践。

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《Clinical and Translational Gastroenterology》 |2017年第5期|共4页
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TaraMagaPhD MS CGC; LaraBalayMS Ed MS CGC; and BarbaraJungMD;
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6. Advantages and Some Remaining Challenges in Hereditary Gastrointestinal Cancer Panel Testing [O] . Tara Maga, Lara Balay, Barbara Jung 2017

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7. A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients [O] . Holly LaDuca, Eric C. Polley, Amal Yussuf, 2019

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Advantages and Some Remaining Challenges in Hereditary Gastrointestinal Cancer Panel Testing

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