Advances in Hereditary Colorectal Cancer: Opportunities and Challenges for Clinical Translation

AbstractPurpose of ReviewOver the last decade, tremendous progress has been made in our understanding, clinical evaluation, and management of hereditary colorectal cancer (CRC). This review provides an overview of recent developments and highlights opportunities and future challenges for clinical translation.Recent FindingsNovel genes have been identified associated with predisposition to CRC and polyposis including,POLE,POLD1,NTHL1,MSH3, andRNF43. Genetic testing has transitioned from phenotype-specific single-gene testing to multigene panels, and universal screening programmes for Lynch syndrome (LS) have been widely implemented. In addition, CRC patients with LS can now access precision medicine through the recent discovery of immune checkpoint inhibitors and risk-reducing interventions.SummaryOur recent advances in hereditary CRC can significantly decrease cancer-related morbidity and mortality. However, several barriers to clinical translation have been reported. Further characterisation of novel and non-traditional CRC genes improved multi-disciplinary communication, and patient education is now required.
Source: Current Genetic Medicine Reports - Category: Genetics & Stem Cells Source Type: research

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We report 3 cases of mismatch repair-deficient (dMMR) locally advanced adenocarcinoma of the rectum that showed significant response with neoadjuvant immunotherapy-based systemic treatment. The first patient was not eligible for standard therapy because of a history of radiotherapy to the prostate with concurrent comorbidities and therefore received single-agent pembrolizumab. The second patient did not respond to total neoadjuvant chemoradiation and subsequently received combined nivolumab and ipilimumab. The third patient had a known family history of Lynch syndrome and presented with locally advanced rectal cancer and a...
Source: Journal of the National Comprehensive Cancer Network : JNCCN - Category: Cancer & Oncology Tags: J Natl Compr Canc Netw Source Type: research
c Samuel Aguiar Junior Edenir Inez Palmero José Cláudio Casali-da-Rocha Dirce Maria Carraro Giovana Tardin Torrezan Lynch syndrome (LS) is a hereditary cancer-predisposing syndrome associated most frequently with epithelial tumors, particularly colorectal (CRC) and endometrial carcinomas (EC). The aim of this study was to investigate the relationship between sarcomas and LS by performing clinical and molecular characterization of patients presenting co-occurrence of sarcomas and tumors from the LS spectrum. We identified 27 patients diagnosed with CRC, EC, and other LS-associated tumors who had ...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
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
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