MUTYH Status and Colorectal Cancer Risk: Implication for Surveillance

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• 作者：Bruno Buecher ; Pascale Mariani ; Rapha?lle Audollent…
• 关键词：MUTYH ; associated polyposis ; Biallelic MUTYH mutations ; Monoallelic MUTYH mutation ; Autosomal recessive inheritance ; Base excision repair system ; BER ; Transversion mutations ; Colorectal polyposis ; Colorectal cancer ; Duodenal polyposis ; Cancer risk ; Guidelines ; Recommendations ; Colonoscopy
• 刊名：Current Colorectal Cancer Reports
• 出版年：2015
• 出版时间：February 2015
• 年：2015
• 卷：11
• 期：1
• 页码：10-16
• 全文大小：165 KB
• 参考文献：1. Al-Tassan N, Chmiel NH, Maynard J, et al. Inherited variants of MYH associated with somatic G:G?→?T:A mutations in colorectal tumors. Nat Genet. 2002;30:3225-. / This paper reports the first case of MUTYH-associated polyposis (MAP) in the princeps British family with three siblings affected with adenomatous colorectal polyposis tested negative for APC mutation. CrossRef
  2. Mazzei F, Viel A, Bignami M. Role of MUTYH in human cancer. Mutat Res. 2013;743-44:33-3. CrossRef
  3. Macrae F, Ahnen DJ. Acceleration in colorectal carcinogenesis: the hare, the tortoise or myth? Gut. 2013;62:657-. CrossRef
  4. Nieuwenhuis MH, Vogt S, Jones N, et al. Evidence of accelerated colorectal adenoma—carcinoma progression on / MUTYH-associated polyposis? Gut. 2012;61:734-. / This paper reports important information about colorectal phenotype and natural course of MAP in 254 patients with biallelic MUTYH mutations identified through three genetics institutes. Clinical data were collected over time and the mean duration of follow-up is 9.8?years. CrossRef
  5. Nielsen M, Joerink-van de Beld MC, Jones N. Analysis of MUTYH genotypes and colorectal phenotypes in patients with MUTY-associated polyposis. Gastroenterology. 2009;136:471-. CrossRef
  6. Knopperts AP, Nielsen M, Niesen RC, et al. Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review. Familial Cancer. 2013;12:43-0. CrossRef
  7. Buecher B, Bona?ti C, Buisine MP, et al. French experts report on MUTYH-associated polyposis (MAP). Familial Cancer. 2012;11:321-8, and La polypose associée aux mutations bi-alléliques du gène MUTYH, and Polyposis associated with MUTYH biallelic mutations—Summary of report. Website of french Institute National du Cancer (INCa) cancer.fr/" class="a-plus-plus">http://e-cancer.fr. / This paper corresponds to the conclusions of an expertise on MUTYH-associated polyposis conducted under the auspices of the french Institut National du Cancer (INCa). It includes recommendations for care of patients with MAP and their relatives carrying a monoallelic MUTYH. More detailed information are available on the website of INCa (cancer.fr/" class="a-plus-plus">http://e-cancer.fr).
  8. Win AK, Dowty JG, Cleary SP, et al. Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. Gastroenterology. 2014;146:1208-1. / This paper reports the largest available study aiming at evaluating colorectal cancer risk in biallelic and monoallelic carriers of MUTYH mutations. CrossRef
  9. Nielsen M, de Miranda NF, van Puijenbroek M, et al. Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas. BMC Cancer. 2009;9:184. CrossRef
  10. Nielsen M, van Steenbergen LN, Jones N, et al. Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients. J Natl Cancer Inst. 2010;102:1724-0. CrossRef
  11. Balman J, Castells A, Cervantes A, on behalf of the ESMO Guidelines working Group. Ann Oncol. 2010;21(Supplement 5):v78-1. / This paper reports the ESMO clinical practice guidelines concerning Familial risk-colorectal cancer and especially MUTYH associated polyposis. This guidelines are endorsed by the Japanese Society of Medical Oncology (JSMO). CrossRef
  12. NCCN clinical practice guidelines in oncology (NCCN Guidelines?). Genetic/familial high-risk assessment: colorectal. Version I; 2014. http://www.nccn.org. / NCCN recommendations for care of patients with MAP and the
• 作者单位：Bruno Buecher (1)
  Pascale Mariani (2)
  Rapha?lle Audollent (2)
  Blandine De Singly (1)
  Astrid Lièvre (3)
  Wulfran Cacheux (1)
  
  1. Department of Medical Oncology, Institut Curie, 26, rue d’Ulm, 75005, Paris, France
  2. Department of Surgical Oncology, Institut Curie, 26, rue d’Ulm, 75005, Paris, France
  3. Department of Medical Oncology, Institut Curie, 35, rue Dailly, 92210, Saint-Cloud, France
  
• 刊物主题：Oncology; Proctology; Colorectal Surgery;
• 出版者：Springer US
• ISSN：1556-3804

文摘

MUTYH polyposis (MAP) is responsible for approximately 10 and 30?% of classical and attenuated forms of adenomatous colorectal polyposes, respectively. The underlying molecular mechanism is a biallelic germline mutation of the MUTYH gene responsible for the failure of the base excision repair (BER) DNA repair system with subsequent accumulation of somatic transversion mutations. The cumulative risk of colorectal cancer is very high in the absence of adequate care. Lifelong close colonoscopic surveillance with polypectomies is recommended. Surgery (total rather than partial colectomy) is required when polyp burden exceeds the number that could be safely managed by endoscopy and/or in case of colorectal cancer. Upper gastrointestinal endoscopy is also recommended to detect and to treat duodenal lesions. An increased risk of colorectal cancer is reported in relatives of MAP patients carrying a monoallelic MUTYH mutation. According to the opinion of the majority of experts, these individuals are therefore candidates for colonoscopic surveillance as recommended for first-degree relatives of a patient with sporadic colorectal cancer.