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Deciding the operation type according to mismatch repair status among hereditary nonpolyposis colorectal cancer patients: should a tailored approach be applied, or does one size fit all?
ConclusionsSignificantly better overall survival and higher rate of metachronous CRC exist in dMMR subgroup of HNPCC patients comparing with pMMR subgroup. Extended colectomy significantly improved DFS and was thus recommended for dMMR subgroup but not pMMR subgroup of HNPCC patients.
Source: Hereditary Cancer in Clinical Practice - June 29, 2021 Category: Cancer & Oncology Source Type: research

Expectations and psychological issues before genetic counseling: analysis of distress determinant factors
ConclusionsGreater level of distress identified on females, single and younger subjects.
Source: Hereditary Cancer in Clinical Practice - April 28, 2020 Category: Cancer & Oncology Source Type: research

Prevalence and spectrum of MLH1 , MSH2 , and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients
ConclusionPathogenic/likely pathogenicMLH1/MSH2 variants account for a substantial proportion of CRC patients with HNPCC/suspected-HNPCC in Pakistan. Our findings suggest that HNPCC/suspected-HNPCC families should be tested for these recurrent variants prior to comprehensive gene screening in this population.
Source: Hereditary Cancer in Clinical Practice - October 22, 2019 Category: Cancer & Oncology Source Type: research

Cytotoxic and targeted therapy for hereditary cancers
AbstractThere is a number of drugs demonstrating specific activity towards hereditary cancers. For example, tumors in BRCA1/2 mutation carriers usually arise via somatic inactivation of the remaining BRCA allele, which makes them particularly sensitive to platinum-based drugs, PARP inhibitors  (PARPi), mitomycin C, liposomal doxorubicin, etc. There are several molecular assays for BRCA-ness, which permit to reveal BRCA-like phenocopies among sporadic tumors and thus extend clinical indications for the use of BRCA-specific therapies. Retrospective data on high-dose chemotherapy deserve c onsideration given some unexpected ...
Source: Hereditary Cancer in Clinical Practice - August 22, 2016 Category: Cancer & Oncology Source Type: research

Next-generation sequencing for genetic testing of familial colorectal cancer syndromes
Conclusions The multiplex NGS approach has the advantage of analyzing multiple genes in multiple samples simultaneously, requiring only a reduced number of Sanger sequences to resolve homopolymeric DNA regions not adequately assessed by NGS. The implementation of NGS approaches in routine diagnostics of familial CRC is cost-effective and significantly reduces diagnostic turnaround times.
Source: Hereditary Cancer in Clinical Practice - August 21, 2015 Category: Cancer & Oncology Source Type: research

Management of ovarian and endometrial cancers in women belonging to HNPCC carrier families: review of the literature and results of cancer risk assessment in Polish HNPCC families
Conclusions Due to the increased risk of OC and absence of any benefit from gynecological screening reported in the literature it is recommended that prophylactic oophorectomy for female carriers of MMR mutations after 35 year of age should be considered as a risk reducing option. Annual transvaginal ultrasound supported by CA125 or HE4 marker testing should be performed after prophylactic surgery in these women. Due to the high risk of EC it is reasonable to offer, after the age of 35 years, annual clinical gynecologic examinations with transvaginal ultrasound supported by routine aspiration sampli...
Source: Hereditary Cancer in Clinical Practice - January 16, 2015 Category: Cancer & Oncology Source Type: research