NICE recommends wider use of tests to detect cancer-causing genetic condition

In draft guidance published for consultation NICE has recommended that everyone who is diagnosed with colorectal cancer should be tested for an inherited genetic condition called Lynch syndrome (LS).
Source: NHS Networks - Category: UK Health Source Type: news

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Lynch syndrome (LS), which is known as a hereditary cancer syndrome, is distinguished by microsatellite instability, represented by the altered number of repetitive sequences in the coding and/or non-coding re...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Case report Source Type: research
Tumor testing utility in Lynch syndrome (LS) diagnosis is established.
Source: Digestive and Liver Disease - Category: Gastroenterology Authors: Tags: Oncology Source Type: research
Contributor : Eduardo VilarSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiens ; Mus musculusLynch syndrome (LS) patients are at markedly increased risk for colorectal cancer. It is being increasingly recognized that the immune system plays an essential role in LS tumor development. Therefore, immune interception strategies are emerging as a novel way to prevent cancer in LS. This phase Ib, placebo-controlled, randomized clinical trial and a co-clinical trial using a LS mouse model and patient-derived organoids aims to evaluate the safety and tolerability as well as to discover novel mol...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Mus musculus Source Type: research
Conclusions: Our study shows that circulating hypermethylated SEPT9 is a specific colorectal cancer biomarker. This hypermethylated SEPT9 DNA disappears around three months after surgery and that circulating hypermethylated SEPT9 may be the first noninvasive marker for postsurgical diagnosis; this conclusion must be confirmed with a more significant number of patients. PMID: 32566042 [PubMed - in process]
Source: Disease Markers - Category: Laboratory Medicine Tags: Dis Markers Source Type: research
This study demonstrates that the IHC approach for both MMR deficiency and V600E BRAF mutation detections is the most efficient approach for Lynch syndrome screening in the Italian population.
Source: European Journal of Cancer Prevention - Category: Cancer & Oncology Tags: Research paper: Colorectal cancer Source Type: research
ConclusionBRCA andBRCA ‐like variants in CRC patients with LS showed moderate penetrance.BRCA/BRCA ‐like variant carriers had a higher risk for extra ‐colorectal cancers. Surveillance of susceptible organs other than the intestine should be performed for probands and affected family members.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
MONDAY, June 15, 2020 -- For patients with Lynch syndrome, aspirin is associated with a reduced risk for colorectal cancer during long-term follow-up, according to a study published in the June 13 issue of The Lancet. John Burn, M.D., from...
Source: Drugs.com - Pharma News - Category: Pharmaceuticals Source Type: news
CONCLUSIONS: FSP neoantigen vaccination is systemically well tolerated and consistently induces humoral and cellular immune responses, thus representing a promising novel approach for treatment and even prevention of MMR-deficient cancer. PMID: 32540851 [PubMed - as supplied by publisher]
Source: Clinical Cancer Research - Category: Cancer & Oncology Authors: Tags: Clin Cancer Res Source Type: research
Lynch syndrome (LS) is an autosomal dominant disease caused by a germline mutation in DNA mismatch repair genes which increases the risk of several cancers such as endometrial and colorectal cancers. However, there are only a few reports of peritoneal malignancies in patients with LS. Herein, we report the first case of a primary peritoneal low-grade serous carcinoma in a woman with LS and provide a literature review of peritoneal malignancies in patients with LS. The patient was a 72-yr-old gravid 2 para 2 Japanese woman with a germline mutation in MLH1. She had a history of colon cancer and endometrial cancer and was tre...
Source: International Journal of Gynecological Pathology - Category: Pathology Tags: PATHOLOGY OF THE UPPER TRACT: CASE REPORTS Source Type: research
AbstractPurpose of ReviewExplore the pathogenesis, unique features, and various prophylactic as well as therapeutic surgical techniques used in the two most common types of hereditary colorectal cancer Lynch syndrome (LS) and familial adenomatous polyposis (FAP).Recent FindingsIn LS patients, it is important to determine the genetic risk panel before undergoing surgery. In practice, 22% of surgeons prefer to perform a subtotal colectomy at diagnosis of LS, and more than a half recommend a subtotal colectomy at diagnosis of CRC. In FAP patients, most surgeons would choose proctocolectomy + ileal pouch-anal anastomosis (IPAA...
Source: Current Colorectal Cancer Reports - Category: Cancer & Oncology Source Type: research
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