Search results for "hereditary"
showing 10 items of 650 documents
The “unnatural” history of colorectal cancer in Lynch syndrome : lessons from colonoscopy surveillance
2021
Individuals with Lynch syndrome (LS), one of the most common inherited cancer syndromes, are at increased risk of developing malignancies, in particular colorectal cancer (CRC). Regular colonoscopy with polypectomy is recommended to reduce CRC risk in LS individuals. However, recent independent studies demonstrated that a substantial proportion of LS individuals develop CRC despite regular colonoscopy. The reasons for this surprising observation confirmed by large prospective studies are a matter of debate. In this review, we collect existing evidence from clinical, epidemiological and molecular studies and interpret them with regard to the origins and progression of LS-associated CRC. Alon…
Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care
2021
Knowledge about genetic predisposition to pediatric cancer is constantly expanding. The categorization and clinical management of the best-known syndromes has been refined over the years. Meanwhile, new genes for pediatric cancer susceptibility are discovered every year. Our current work shares the results of genetically studying the germline of 170 pediatric patients diagnosed with cancer. Patients were prospectively recruited and studied using a custom panel, OncoNano V2. The well-categorized predisposing syndromes incidence was 9.4%. Likely pathogenic variants for predisposition to the patient’s tumor were identified in an additional 5.9% of cases. Additionally, a high number of pathogen…
Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial : Planned 10-Year Follow-up
2022
Abstract The CAPP2 trial investigated the long-term effects of aspirin and resistant starch on cancer incidence in patients with Lynch syndrome (LS). Participants with LS were randomized double-blind to 30 g resistant starch (RS) daily or placebo for up to 4 years. We present long-term cancer outcomes based on the planned 10-year follow-up from recruitment, supplemented by National Cancer Registry data to 20 years in England, Wales, and Finland. Overall, 463 participants received RS and 455 participants received placebo. After up to 20 years follow-up, there was no difference in colorectal cancer incidence (n = 52 diagnosed with colorectal cancer among those randomized to RS against n = 53…
Epidemiological, clinical and molecular characterization of Lynch‐like syndrome: A population‐based study
2019
Colorectal carcinomas that are mismatch repair (MMR)‐deficient in the absence of MLH1 promoter methylation or germline mutations represent Lynch‐like syndrome (LLS). Double somatic events inactivating MMR genes are involved in the etiology of LLS tumors. Our purpose was to define the clinical and broader molecular hallmarks of LLS tumors and the population incidence of LLS, which remain poorly characterized. We investigated 762 consecutive colorectal carcinomas operated in Central Finland in 2000–2010. LLS cases were identified by a stepwise protocol based on MMR protein expression, MLH1 methylation and MMR gene mutation status. LLS tumors were profiled for CpG Island Methylator Phenotype (…
Factors associated with decision-making on prophylactic hysterectomy and attitudes towards gynecological surveillance among women with Lynch syndrome…
2020
AbstractTo prevent endometrial carcinoma in Lynch syndrome (LS), regular gynecological surveillance visits and prophylactic surgery are recommended. Previous data have shown that prophylactic hysterectomy is an effective means of cancer prevention, while the advantages and disadvantages of surveillance are somewhat unclear. We aimed to evaluate female LS carriers’ attitudes towards regular gynecological surveillance and factors influencing their decision-making on prophylactic surgery that have not been well documented. Pain experienced during endometrial biopsies was also evaluated. Postal questionnaires were sent to LS carriers undergoing regular gynecological surveillance. Questionnaires…
No evidence of EMAST in whole genome sequencing data from 248 colorectal cancers.
2021
Microsatellite instability (MSI) is caused by defective DNA mismatch repair (MMR), and manifests as accumulation of small insertions and deletions (indels) in short tandem repeats of the genome. Another form of repeat instability, elevated microsatellite alterations at selected tetranucleotide repeats (EMAST), has been suggested to occur in 50% to 60% of colorectal cancer (CRC), of which approximately one quarter are accounted for by MSI. Unlike for MSI, the criteria for defining EMAST is not consensual. EMAST CRCs have been suggested to form a distinct subset of CRCs that has been linked to a higher tumor stage, chronic inflammation, and poor prognosis. EMAST CRCs not exhibiting MSI have b…
Craniomaxillofacial morphology alterations in children, adolescents and adults with neurofibromatosis 1 : a cone beam computed tomography analysis of…
2017
Background Oral manifestations are common in neurofibromatosis 1 (NF1), and include jaws and teeth alterations. Our aim was to investigate the craniomaxillofacial morphology of Brazilian children, adolescents and adults with NF1 using cone beam computed tomography. Material and Methods This study was conducted with 36 Brazilian individuals with NF1 with ages ranging from 4 to 75. The participants were submitted to anamnesis, extra and intraoral exam and cephalometric analysis using cone beam computed tomography. Height of the NF1 individuals was compared to the length of jaws and skull base. The results of the cephalometric measurements of the NF1 group were compared with a control group pa…
FMRI of the Cerebellum: Rostral Paravermal Activation in Tongue and Lip
1998
We investigated with fMRI the cerebellar representation of articulatory vertical movements of the tongue and orofacial muscles in healthy volunteers and its correspondence to the area known to be affected in cerebellar dysarthria. fMRI stimulation is mainly unilateral in agreement with the frequent occurrence of dysarthria in unilateral infarction.
Triggers of Exacerbation in Chronic Urticaria and Recurrent Angioedema—Prevalence and Relevance
2021
Patients with urticaria and angioedema often have triggers that cause an outbreak or a swelling episode or worsen their chronic condition. Exploring these factors with each patient may result in better understanding and control of their disease. Patients should be advised to avoid known triggers, if feasible, or prepare to prevent or control an exacerbation with appropriate pretreatment if avoidance is not possible. In this review, we describe and discuss a variety of factors for which there is evidence that they cause or exacerbate chronic spontaneous urticaria and angioedema. These potentially exacerbating factors include drugs, food additives, and naturally occurring pseudoallergens, men…
Maximum weight relaxed cliques and Russian Doll Search revisited
2015
Trukhanov et al. [Trukhanov S, Balasubramaniam C, Balasundaram B, Butenko S (2013) Algorithms for detecting optimal hereditary structures in graphs, with application to clique relaxations. Comp. Opt. and Appl., 56(1), 113–130] used the Russian Doll Search (RDS) principle to effectively find maximum hereditary structures in graphs. Prominent examples of such hereditary structures are cliques and some clique relaxations intensely discussed and studied in network analysis. The effectiveness of the tailored RDS by Trukhanov et al. for s-plex and s-defective clique can be attributed to their cleverly designed incremental verification procedures used to distinguish feasible from infeasible struct…