Frequent mismatch-repair defects link prostate cancer to Lynch syndrome

A possible role for prostate cancer in Lynch syndrome has been debated based on observations of mismatch-repair defective tumors and reports of an increased risk of prostate cancer in mutation carriers. Potent...
Source: BMC Urology - Category: Urology & Nephrology Authors: Source Type: research

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Recent studies have suggested an increased risk of prostate cancer in men with Lynch syndrome driven by germline mutations in mismatch repair (MMR) genes. However, the incidence and clinical implication of MMR deficiency in sporadic prostate cancers remain poorly understood. We immunohistochemically stained for MLH1, MSH2, MSH6, and PMS2 in a set of tissue microarray consisting of 220 radical prostatectomy specimens and evaluated the relationship between loss of their expression and available clinicopathological features. MLH1, MSH2, MSH6, and PMS2 were lost in 2 (0.9%), 6 (2.7%), 37 (16.8%), and 27 (12.3%) prostate cancer...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research
Purpose of review An overview of urologic malignancies in Lynch syndrome and the current state of research. Recent findings Upper tract urothelial carcinoma (UTUC) is the third most common malignancy in Lynch syndrome. Establishment and utilization of a sensitive and practical screening method for Lynch syndrome in patients presenting with UTUC is overdue. Next-generation sequencing to evaluate for microsatellite instability (MSI) and detect mutations of mismatch repair (MMR) genes may be the future of Lynch syndrome screening. Epidemiologic data and molecular characterization suggest bladder urothelial carcinoma (BUC...
Source: Current Opinion in Urology - Category: Urology & Nephrology Tags: CANCER GENETICS IN UROLOGIC PRACTICE: Edited by Todd M. Morgan and Brian Chapin Source Type: research
Abstract The National Comprehensive Cancer Network now recommends BRCA1/2 genetic testing in men with metastatic prostate cancer. The purpose of this article is to provide a review of principles of genetic testing in prostate cancer and highlight the significance of clinical genetic testing of BRCA1/2 and other genes (CHEK2, HOXB13, PALB2), including Lynch syndrome genes (MLH1, MSH2, MSH6, and PMS2) in men with metastatic prostate cancer. The potential impact of genetic testing on systemic treatments and the significance of the pathogenic results for at-risk family members is discussed. PMID: 30681994 [PubMed - in process]
Source: Clinical Journal of Oncology Nursing - Category: Nursing Authors: Tags: Clin J Oncol Nurs Source Type: research
Publication date: 2014Source: Yearbook of Urology, Volume 2014Author(s): A.S. Kibel
Source: Yearbook of Urology - Category: Urology & Nephrology Source Type: research
In conclusion, this study has identified putative PrCa predisposing germline mutations in 14.9% of early-onset/familial PrCa patients. Further data will be necessary to confirm the genetic heterogeneity of inherited PrCa predisposition hinted in this study.
Source: PLoS Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
BACKGROUNDApproximately 10% of pancreatic adenocarcinoma (PC) cases are attributed to hereditary causes. Individuals with PC and a personal history of another cancer associated with hereditary breast and ovarian cancer (HBOC) or Lynch syndrome (LS) may be more likely to carry germline mutations. METHODSParticipants with PC and a history of cancer were selected from a pancreatic disease registry. Of 1296 individuals with PC, 149 had a relevant history of cancer. If banked DNA was available, a multigene panel was performed for individuals who had not 1) previously had a mutation identified through clinical testing or 2) unde...
Source: Cancer - Category: Cancer & Oncology Authors: Tags: Original Article Source Type: research
A 43-year-old man presented to his primary care physician in January 2013 for a routine comprehensive physical evaluation. On initial presentation, he reported feeling well with no complaints. Review of systems was negative. The patient denied any symptoms of constitutional weight loss, fatigue, pelvic pain, urinary symptoms, hematuria, or change in sexual function. His past medical history was significant for cutaneous lipomas, diverticulosis, and colon polyps, including a tubulovillous adenoma and a tubular adenoma removed during colonoscopies in 2004 and 2012, respectively (Fig.  1).
Source: Urology - Category: Urology & Nephrology Authors: Tags: Grand Rounds Source Type: research
Abstract Prostate cancer (PrCa) is one of the most common cancers diagnosed worldwide and 5–10 % of all cases are estimated to be associated with inherited predisposition. Even though there is strong evidence that the genetic component is significant in PrCa, the genetic etiology of familial and early-onset disease is largely unknown. Although it has been suggested that men from families with hereditary breast/ovarian cancer (HBOC) and, more recently, with Lynch syndrome may have an increased risk for PrCa, the contribution of these syndromes to PrCa predisposition in families ascertained for early-...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
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