Refining the Role of PMS2 in Lynch SyndromeRefining the Role of PMS2 in Lynch Syndrome

This study analyzed the contribution of the PMS2 mismatch repair gene in Lynch syndrome by assessing the pathogenicity of variants of unknown significance. Journal of Medical Genetics
Source: Medscape Today Headlines - Category: Consumer Health News Tags: Pathology & Lab Medicine Journal Article Source Type: news

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ConclusionCurettage for miscarriage or undesired pregnancy is not exempt from complications (as hemorrhage, simple perforation, or infection) Intrauterine fallopian tube incarceration is uncommon but can affect fertility. This diagnosis is important to avoid destruction of the fimbriae, necrosis of the tube and also to reduce the risk for ectopic pregnancy.
Source: Journal of Minimally Invasive Gynecology - Category: OBGYN Source Type: research
CONCLUSION: In hereditary OC syndromes, mutations in DNA repair pathways form the clinical basis for the use of PARP inhibitors and an immune checkpoint inhibitor as novel targeted therapies. PMID: 30228165 [PubMed - as supplied by publisher]
Source: American Journal of Health-System Pharmacy : AJHP - Category: Drugs & Pharmacology Authors: Tags: Am J Health Syst Pharm Source Type: research
ConclusionsWe find that bi-allelic alterations are infrequent in TCGA but most frequently occur inBRCA1/2 and MMR genes. Our results support the idea that bi-allelic alteration is required for germline variation to influence tumor mutational profile. Overall, we demonstrate that integrating germline, somatic, and epigenetic alterations provides new understanding of somatic mutational profiles.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research
Abstract Ovarian clear cell carcinoma (OCCC) is distinctive from other histological types of epithelial ovarian cancer, with genetic/epigenetic alterations, a specific immune-related molecular profile, and epidemiologic associations with ethnicity and endometriosis. These findings allow for the exploration of unique and specific treatments for OCCC. Two major mutated genes in OCCC are PIK3CA and ARID1A, which are frequently coexistent with each other. Other genes' alterations also contribute to activation of the PI3K (e.g. PIK3R1 and PTEN) and dysregulation of the chromatin remodeling complex (e.g. ARID1B, and SMA...
Source: Gynecologic Oncology - Category: Cancer & Oncology Authors: Tags: Gynecol Oncol Source Type: research
This report includes a review of the current literature, as well as a brief discussion of the clinical management of women with sebaceous carcinoma arising within a mature teratoma. Additionally, we comment on the broader, hereditary significance of a diagnosis of sebaceous carcinoma, and use this case to demonstrate the thorough histologic and genetic evaluation that is recommended for patients diagnosed with this rare tumor.
Source: Gynecologic Oncology Reports - Category: OBGYN Source Type: research
This study sought to examine the clinicopathologic features and immune markers associated with the DNA mismatch repair (MMR) status and MLH1 promoter methylation status of endometrial cancer patients. A total of 173 patients with primary endometrial cancer who had received a hysterectomy were evaluated for four MMR proteins (MLH1, MSH2, MSH6, and PMS2), immune markers (CD8, programmed cell death protein 1 (PD-1), and programmed death-ligand 1 (PD-L1)) and p53 by immunohistochemistry (IHC), followed by an MLH1 methylation test. Patients were classified into MMR deficiency or proficiency, sporadic cancer, or probable Lynch s...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
CONCLUSIONS: This study confirms the effectiveness of tumor testing to identify LS among patients with CRC. Although IHC and MSI analysis were similarly effective, IHC could be a better strategy for LS identification as it is less expensive and more feasible. PMID: 30117378 [PubMed - as supplied by publisher]
Source: Tumori - Category: Cancer & Oncology Tags: Tumori Source Type: research
Guidelines recommend that all colorectal tumors be assessed for mismatch repair deficiency, which could increase identification of patients with Lynch syndrome. This is of particular importance for minority populations, in whom hereditary syndromes are under diagnosed. We compared rates and outcomes of testing all tumor samples (universal testing) collected from a racially and ethnically diverse population for features of Lynch syndrome.
Source: Clinical Gastroenterology and Hepatology - Category: Gastroenterology Authors: Source Type: research
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
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
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