Genetics, diagnosis and treatment of Lynch syndrome: Old lessons and current challenges.

Genetics, diagnosis and treatment of Lynch syndrome: Old lessons and current challenges. Oncol Lett. 2019 Mar;17(3):3048-3054 Authors: Duraturo F, Liccardo R, De Rosa M, Izzo P Abstract Lynch syndrome (LS) is an autosomal dominant genetic disorder associated with germline mutations in DNA mismatch repair (MMR) genes. The carriers of pathogenic mutations in these genes have an increased risk of developing a colorectal cancer and/or LS-associated cancer. The LS-associated cancer types include carcinomas of the endometrium, small intestine, stomach, pancreas and biliary tract, ovary, brain, upper urinary tract and skin. The criteria for the clinical diagnosis of LS and the procedures of the genetic testing for identification of pathogenetic mutations carriers in MMR genes have long been known. A crucial point in the mutation detection analysis is the correct definition of the pathogenecity associated with MMR genetic variants, especially in order to include the mutation carriers in the endoscopy surveillance programs more suited to them. Therefore, this may help to improve the LS-associated cancer prevention programs. In the present review, we also report the recent discoveries in molecular genetics of LS, such as the new roles of MMR protein and immune response of MMR repair deficiency in colorectal cancer. Finally, we discuss the main therapeutic approaches, including immunotherapy, which represent a valid alternative to traditional therapeutic methods and...
Source: Oncology Letters - Category: Cancer & Oncology Tags: Oncol Lett Source Type: research

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Publication date: November–December 2019Source: Reports of Practical Oncology &Radiotherapy, Volume 24, Issue 6Author(s): Ngangom Robert, R.P. Chauhan, Arun Oinam, Bhavana RaiAbstractAimThe aim of this study was to formulate isodose volume relations encompassed by isodose surfaces in Co-60 and Ir-192 HDR intracavitary brachytherapy (ICBT) of cervix carcinoma using the Total Reference Air Kerma (TRAK).BackgroundThe TRAK and isodose volumes are radioactive source related. The formulated relations can easily estimate the irradiated isodose volume if the TRAK and dose are known. The C0-60 can also be used for brachyt...
Source: Reports of Practical Oncology and Radiotherapy - Category: Cancer & Oncology Source Type: research
ConclusionsThe phantom data show the validity of our fast distortion correction algorithm. Patient-specific data are acquired in
Source: Reports of Practical Oncology and Radiotherapy - Category: Cancer & Oncology Source Type: research
Publication date: Available online 19 October 2019Source: Practical Radiation OncologyAuthor(s): Barry S. Rosenstein
Source: Practical Radiation Oncology - Category: Cancer & Oncology Source Type: research
ConclusionThese findings suggest that targeted research and interventions are necessary to address the specific needs of rural lymphoma patients and survivors. To address the disparity in health outcomes within rural populations, health care professionals and investigators can utilize these data to engage rural patients in treatment decision-making and research planning.
Source: Clinical Lymphoma Myeloma and Leukemia - Category: Cancer & Oncology Source Type: research
ConclusionThe better prognosis in young patients is presumably due to their better physiological reserve and lower incidence of comorbidities. Efforts should be made in younger patients to diagnose early and treat aggressively.
Source: Cancer Epidemiology - Category: Cancer & Oncology Source Type: research
We examined racial differences in hospitalization outcomes; length of stay (LOS) in hospital, mortality in hospital, post-operative complications in patients who underwent hysterectomy and discharge disposition. Patients were matched on age at primary diagnosis, insurance status, residential region, and median income of residential area, modified Deyo comorbidity index, stage of disease and treatment. Categorical outcomes were analyzed by conditional logistic regression accounting for matched study design and odds ratios (95%CI) were reported. LOS was analyzed using t-test and beta estimate for difference in means was repo...
Source: Cancer Epidemiology - Category: Cancer & Oncology Source Type: research
Publication date: Available online 18 October 2019Source: Acta Pharmaceutica Sinica BAuthor(s): Hui Deng, Weimin LiAbstractMonoacylglycerol lipase (MAGL) is a serine hydrolase that plays a crucial role catalysing the hydrolysis of monoglycerides into glycerol and fatty acids. It links the endocannabinoid and eicosanoid systems together by degradation of the abundant endocannabinoid 2-arachidaoylglycerol into arachidonic acid, the precursor of prostaglandins and other inflammatory mediators. MAGL inhibitors have been considered as important agents in many therapeutic fields, including anti-nociceptive, anxiolytic, anti-infl...
Source: Acta Pharmaceutica Sinica B - Category: Cancer & Oncology Source Type: research
Publication date: Available online 18 October 2019Source: Acta Pharmaceutica Sinica BAuthor(s): Honggang Xiang, Jifa Zhang, Congcong Lin, Lan Zhang, Bo Liu, Liang OuyangAbstractAutophagy, defined as a scavenging process of protein aggregates and damaged organelles mediated by lysosomes, plays a significant role in the quality control of macromolecules and organelles. Since protein kinases are integral to the autophagy process, it is critically important to understand the role of kinases in autophagic regulation. At present, intervention of autophagic processes by small-molecule modulators targeting specific kinases has bec...
Source: Acta Pharmaceutica Sinica B - Category: Cancer & Oncology Source Type: research
AbstractLynch syndrome (LS) is an autosomal-dominant inherited disorder characterized by a predisposition to colorectal cancer and extracolonic cancers (particularly endometrium, ovary, stomach, small bowel, hepatobiliary tract, pancreas, urothelial tract, brain, and skin). Muir –Torre syndrome (MTS) is considered a phenotypical variant of LS, where patients develop sebaceous neoplasms and keratoacanthomas. Currently, only few studies and case reports suggest an association between LS and other skin cancers, such as Bowens’ disease, melanoma and squamous cell carcinoma (SCC). In this case-report we describe the...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
Abstract Patients with Lynch Syndrome are at high risk for developing a variety of cancers including cancers of the colon or rectum, small bowel, stomach, uterus, renal pelvis, ureter, biliary tract, ovaries, brain and pancreas (N Engl J Med 348: 919-32, 2003; Gut 57:1097-101, 2008; NCCN, Inc Guideline. Ft. Washington, PA. Online Version 2.2014). Lack of MLH-1 and MSH-2 expression commonly result from germline mutations in this inherited cancer syndrome. Here, we report the case of a patient with a molecularly confirmed germline mutation in MLH-1 along with a colon cancer showing lack of expression of MLH-1 as we...
Source: Hereditary Cancer in Clinical Practice - Category: Cancer & Oncology Source Type: research
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