Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012

Rahner, Nils; Steinke, Verena; Schlegelberger, Brigitte; Eisinger, François; Hutter, Pierre; Olschwang, Sylviane

doi:10.1038/ejhg.2012.164

Cited by 18 publications

(8 citation statements)

References 18 publications

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“…Hereditary nonpolyposis colorectal cancer (CRC), also referred to as the Lynch syndrome, is the most common form of hereditary colorectal cancer. Lynch syndrome has a molecular phenotype of microsatellite instability that is caused by a germ-line mutation in any of the mismatch repair genes MLH1, MSH2, MSH6, PMS1, PMS2, or EPCAM7. The frequency of gastric cancer in carriers of Lynch syndrome mutations has been estimated at 1.6%, and it mainly happens to intestinal-type of Lauren classification8.…”

Section: Introductionmentioning

confidence: 99%

Methylation of SLFN11 promotes gastric cancer growth and increases gastric cancer cell resistance to cisplatin

Peng

Wang

et al. 2019

J. Cancer

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Background and Aim: Human SLFN11 gene encodes a protein with structural similarity to RNA helicases, which was reported to sensitize cancer cells to DNA-damaging agents. This study explored the epigenetic regulation and mechanism of SLFN11 in human gastric cancer.Methods: Eight human gastric cancer cell lines and 201 cases of primary gastric cancer were analyzed. Methylation specific PCR, flow cytometry, xenograft mouse model and siRNA technique were employed.Results: SLFN11 was methylated in 29.9% (60/201) of primary gastric cancer. The expression of SLFN11 was regulated by promoter region methylation. Methylation of SLFN11 was significantly associated with tumor size (p < 0.05). SLFN11 suppressed gastric cancer growth both in vitro and in vivo and enhanced the ability of cisplatin to induce S-phrase arrest and apoptosis in gastric cancer cells.Conclusions: SLFN11 is frequently methylated in human gastric cancer, and its expression is regulated by promoter region methylation. Our results demonstrate that SLFN11 is a tumor suppressor in human gastric cancer, and methylation of SLFN11 may serve as a cisplatin resistant marker in human gastric cancer.

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Section: Introductionmentioning

confidence: 99%

Methylation of SLFN11 promotes gastric cancer growth and increases gastric cancer cell resistance to cisplatin

Peng

Wang

et al. 2019

J. Cancer

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“…Although LS itself is incurable, a positive test result may motivate behaviour changes that are effective in mitigating risk of CRC [181]. Following a positive test result, patients can undergo early/two-yearly CRC screening with complete colonoscopy from age 25 within the NHS [177,178].…”

Section: Potential For Risk Reduction And/or Treatmentmentioning

confidence: 99%

Assessing the impact of developments in genetic testing on insurers' risk exposure

Rodriguez-Rincon¹,

Parkinson²,

Hocking³

et al. 2022

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“…Он описал семью, в которой родственники четырех поколений страдали раком толстой кишки, желудка, молочной железы, матки, яичников. Встречаемость ННКРР в популяции составляет 1:500-1:1000, что делает этот синдром одним из самых частых наследственных заболеваний [15].…”

Section: гены Mlh Msh Pmsunclassified

Molecular Genetic Aspects of Malignant Colon Tumors

Пасевич¹,

Sushkou²,

Семенов³

2016

Novosti Khirurgii

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На сегодняшний день колоректальный рак входит в число лидеров по онкозаболеваемости населения во всем мире. Существует множество программ скрининга рака толстого кишечника, однако уровень выявляемости данного заболевания на поздних стадиях остается достаточно высоким. Это указывает на недостатки существующих и на необходимость поиска новых методик ранней диагностики данной патологии. В статье представлен обзор современный литературы о роли молекулярно-генетических факторов в патогенезе колоректального рака. Приведены характеристика, локализация и функции ряда генов, таких как АРС, MLH, MSH, PMS, KRAS, NRAS, BRAF, Р53, BIRC5, принимающих участие в возникновении доброкачественных новообразований толстой кишки, а затем трансформации их в злокачественные. Представлена информация о клиническом значении, прогностической значимости, определении эффективности лечения при выборе химиотерапевтических препаратов. Описаны молекулярно-генетические методы, используемые для выявления данных генов. Определена роль молекулярной генетики в ранней диагностике малигнизации доброкачественных образований. Описаны генетические факторы, вызывающие наследственную предрасположенность (семейный аденоматозный полипоз, с-м Линча), а так же мутации в генах, приводящие к появлению ненаследственных форм колоректального рака.Ключевые слова: программы скрининга колоректального рака, колоректальный рак, молекулярно-генетическая диагностика, семейный аденоматозный полипоз, синдром Линча, сурвивин, генетический фактор Today colorectal cancer is widely considered to be one of the world leaders in cancer incidence. There are many Colorectal Cancer Screening Programs for the detection of colorectal cancer; however, the identification of this disease in the late stages remains high. It points the disadvantages of the existing methods and seems to testify to a need of the new methods creation for early detection of cancer. This review presents the current literature on the role of genetic factors in colorectal cancer pathogenesis at the molecular level. The characteristics, localization and functions of some genes such as APC, MLH, MSH, PMS, KRAS, NRAS, BRAF, P53, BIRC5, involved in the occurrence of benign tumors of the colon, and then the conversion of normal cells into cancerous cells are presented. The information about the clinical and prognostic value, idetification of treatment effectiveness in choosing the types of chemotherapy drugs is given. Molecular and genetic techniques applied to identify these genes are described. The role of molecular genetics in the early diagnosis of malignancy of benign tumors is defined. The genetic factors, causing genetic predisposition (familial adenomatous polyposis, Lynch syndrome) are described as well as mutations in genes resulting in the appearance of non-inherited forms of colorectal cancer.

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Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012

Cited by 18 publications

References 18 publications

Methylation of SLFN11 promotes gastric cancer growth and increases gastric cancer cell resistance to cisplatin

Methylation of SLFN11 promotes gastric cancer growth and increases gastric cancer cell resistance to cisplatin

Assessing the impact of developments in genetic testing on insurers' risk exposure

Molecular Genetic Aspects of Malignant Colon Tumors

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