An international study allows a better prediction of the risk of hereditary cancer

(IDIBELL-Bellvitge Biomedical Research Institute) An international study has developed a refined method to identify people at risk for certain inherited cancer as a result of Lynch syndrome. The study, published in Nature Genetics has carried out clinical and basic researchers who are part of the INSIGHT (International Society for Gastroeintestinal Hereditary Tumours).
Source: EurekAlert! - Cancer - Category: Cancer & Oncology Source Type: news

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Purpose of review There is an increasing interest in the role of routine testing for germline mutations in the management and outcome of gynaecological cancers as the therapeutic options for these patients develop, and knowledge about specific gene risks increase. This review focuses on recent literature assessing these areas of interest. Recent findings Systemic treatment options continue to increase, with two recent studies (SOLO2 and ARIEL-3) of the use of PARP inhibitors in the maintenance setting; and approval of pembrolizomab for mismatch repair deficient/microsatellite unstable tumours. Several studies have add...
Source: Current Opinion in Oncology - Category: Cancer & Oncology Tags: GYNECOLOGIC CANCER: Edited by Martin Gore Source Type: research
E, Jean Hannah Edelstein ’s husband, explains his side of IVF treatment, from the sperm analysis to the importance of patienceWhat ’s it like to be the partner of someone going through IVF treatment? This week, I sat down to discuss the experience with my husband, E. Like me, E is in his mid-30s and has never had kids before. Here’s what he told me.We discussed IVF very early in our relationship – it’s been with us basically from the beginning. On our first date we talked about cancer in our families – I lost my mom about a year before you lost your dad, you told me about Lynch syndrome ...
Source: Guardian Unlimited Science - Category: Science Authors: Tags: Family Pregnancy Life and style Sex Parents and parenting Health & wellbeing Source Type: news
In this study, we employed the combination of germline testing and tumor mutational assessment to help discern the clinical relevance of VUS and guide immunotherapeutic decisions. KEY POINTS: A clinical dilemma arises when genomic testing yields variants of uncertain significance (VUS).Germline VUS were identified in two patients with gastrointestinal malignancies, but only one patient had a second-hit mutation in a mismatch repair gene leading to mismatch repair deficiency that conferred response to immunotherapy.The combination of germline testing along with tumor mutational assessment can help discern the clinical ...
Source: The Oncologist - Category: Cancer & Oncology Authors: Tags: Oncologist Source Type: research
CONCLUSIONS: Many high-risk women do not receive GCR despite a high rate of germline mutations among these women. Improving GCR among high-risk women will lead to more subsequent GT to identify more Lynch syndrome families and prevent additional cancers. Among our ethnically diverse cohort, two women diagnosed with LS had retained MMR protein expression. GCR should be offered to women who possess high-risk characteristics despite normal MMR protein expression. PMID: 30077346 [PubMed - as supplied by publisher]
Source: Gynecologic Oncology - Category: Cancer & Oncology Authors: Tags: Gynecol Oncol Source Type: research
CONCLUSION: We describe the Nottingham Lynch Syndrome Test (N_LyST). This is a quick, simple and cheap method for screening for Lynch syndrome. PMID: 29472252 [PubMed - indexed for MEDLINE]
Source: Clinical Colorectal Cancer - Category: Cancer & Oncology Authors: Tags: J Clin Pathol Source Type: research
Patients with Lynch syndrome are at high risk for developing colorectal cancer (CRC). Regular colonoscopic surveillance is recommended, but there is no international consensus on the appropriate interval. We investigated whether shorter intervals are associated with lower CRC incidence and detection at earlier stages by comparing the surveillance policies in Germany, which evaluates patients by colonoscopy annually, in the Netherlands (patients evaluated at 1 –2-year intervals), and Finland (patients evaluated at 2–3-year intervals).
Source: Gastroenterology - Category: Gastroenterology Authors: Source Type: research
It is important to identify individuals with Lynch syndrome because surveillance programs can reduce their morbidity and mortality from colorectal cancer (CRC). We assessed the diagnostic yield of immunohistochemistry to detect Lynch syndrome in patients with advanced and multiple adenomas within our national CRC screening program.
Source: Gastroenterology - Category: Gastroenterology Authors: Source Type: research
Study used the CDC Science Impact Framework to trace the impact of public health activities and partnerships on the implementation of the 2009 Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Lynch Syndrome screening recommendation and the 2005 and 2013 USPSTF BRCA1 and BRCA2 testing recommendations.
Source: PHPartners.org - Category: International Medicine & Public Health Source Type: news
Lynch syndrome is a hereditary cancer syndrome that substantially increases risk of developing colorectal and endometrial cancer, as well as elevating the risk of developing cancer of the stomach, ovaries, urinary tract, brain, and small bowel [1,2]. Lynch syndrome is caused by a germline pathogenic variant (i.e., disease-associated mutation) in one of four mismatch repair genes: MLH1, MSH2, MSH6, and PMS2. Pathogenic variants in MSH2 and MLH1 are associated with up to 74% and 54% lifetime risks for colorectal and endometrial cancer, respectively, while PMS2 and MSH6 are associated with up to 22% and 26% lifetime risks for...
Source: Patient Education and Counseling - Category: International Medicine & Public Health Authors: Source Type: research
The Journal of Pathology,Volume 0, Issue ja, -Not available-.
Source: The Journal of Pathology - Category: Pathology Authors: Source Type: research
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