Health of entire families at risk through under-use of genetic testing

(European Society of Human Genetics) French researchers who carried out the first-ever national study of the take-up of genetic testing for BRCA1 and 2 and MMR (Lynch syndrome) mutations have found that, although there had been a steady increase in tests performed for the cancer-causing mutations BRCA1 and BRCA2, this was not the case with the MMR mutation, where the numbers undergoing the test are still tiny. Only a third of relatives of individuals with either mutation underwent genetic testing themselves.
Source: EurekAlert! - Medicine and Health - Category: Global & Universal Source Type: news

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In this study, we performed Targeted Next-Generation Sequencing of MMR pathway genes MLH1, MSH2, MSH6, EPCAM, and PMS2 in a cohort of 711 patients with hereditary BC, 60 patients with sporadic BC, and 492 healthy donors. Sixty-nine patients (9.7%) with hereditary BC harbored at least one germline mutation in the MMR pathway genes, of them 32 patients (4.5%) harbored mutations in MMR pathway genes which we define as pathogenic or likely pathogenic, and of them 26 patients (3.6%) did not have any pathogenic mutations in DDR pathway genes, compared to two mutations in MMR pathway genes (0.4%) detected in a group of 492 health...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Conclusion: This cohort demonstrates the effectiveness of LS surveillance and suggests possible tailored surveillance strategies by gene mutation and family history. PMID: 32448028 [PubMed - as supplied by publisher]
Source: Scandinavian Journal of Gastroenterology - Category: Gastroenterology Tags: Scand J Gastroenterol Source Type: research
ConclusionsAmong a high-risk population for CRC, in particular LS, an extended surgery may be considered in CRC patients with specific risk factors (MLH1 orMSH2 germline pathogenic variants, history of colorectal adenomas) to reduce the risk of mCRC development.
Source: International Journal of Clinical Oncology - Category: Cancer & Oncology Source Type: research
Source: Clinical Gastroenterology and Hepatology - Category: Gastroenterology Authors: Source Type: research
The original version of this article unfortunately contained mistakes.
Source: Journal of Cancer Education - Category: Cancer & Oncology Source Type: research
Genetics in Medicine, Published online: 15 May 2020; doi:10.1038/s41436-020-0819-0Overcoming the challenges associated with universal screening for Lynch syndrome in colorectal and endometrial cancer
Source: Genetics in Medicine - Category: Genetics & Stem Cells Authors: Source Type: research
ConclusionThese results indicate that there is scope to further increase provision of advice at FCCs to ensure that all carriers receive recommendations about evidence-based risk management. A multi-pronged behaviour change and implementation science approach tailored to specific barriers is likely to be needed to achieve optimal clinician behaviours and outcomes for carriers.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
Abstract OBJECTIVE: Compare detection of Lynch syndrome in endometrial cancer between regions of a health care system with different screening strategies. METHODS: A retrospective study of endometrial cancer (EC) cases from 2 regions of an integrated health care system (Kaiser Permanente Northern (KPNC) and Southern (KPSC) California). Within KPNC, immunohistochemistry tumor screening (IHC) was physician ordered and risk-based; within KPSC, IHC was universal and automated. Clinical risk factors associated with abnormal IHC and Lynch Syndrome (LS) were identified. RESULTS: During the study, there were 204...
Source: Gynecologic Oncology - Category: Cancer & Oncology Authors: Tags: Gynecol Oncol Source Type: research
AbstractGermline pathogenic variants in the DNA mismatch repair genes (MMR):MLH1,MSH2,MSH6, andPMS2, are causative of Lynch syndrome (LS). However, many of the variants mapping outside the invariant splice site positions (IVS  ± 1, IVS ± 2) are classified as variants of unknown significance (VUS). Three such variants (MLH1 c.588+5G>C, c.588+5G>T and c.677+5G>A) were identified in 8 unrelated LS families from Argentina, Brazil and Chile. Herein, we collected clinical information on these families and performed segregation analysis and RNA splicing studies to assess the impl...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
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
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