Multigene panel testing for hereditary breast/ovarian cancer risk assessment

(The JAMA Network Journals) Multigene testing of women negative for BRCA1 and BRCA2 found some of them harbored other harmful genetic mutations, most commonly moderate-risk breast and ovarian cancer genes and Lynch syndrome genes, which increase ovarian cancer risk, according to an article published online by JAMA Oncology.
Source: EurekAlert! - Cancer - Category: Cancer & Oncology 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
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
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
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
While genomic information has been used to identify disease risk and select treatments for individuals with a clinical or family history of a condition with a major genetic component, genomic disease risk screening for conditions such as hereditary breast and ovarian cancer, Lynch syndrome, or familial hyper cholesterolemia is now being considered for surveillance of unselected populations in health care systems and public health programs (Modell,  Greendale, Citrin,&Kardia, 2016). Clinical nurses and nurse scientists have a large role to play in the future of genomic screening in health systems including developi...
Source: Nursing Outlook - Category: Nursing Authors: Source Type: research
Recent attention has focused on the hereditary basis of pancreatic ductal adenocarcinoma (PDAC), a fatal cancer with an overall 5-year survival of 8%. For inherited cancer syndromes such as Lynch and hereditary breast and ovarian cancer syndromes, research in the last 20 or more years has culminated in strategies for clinical management, with tailored screening, prophylactic surgery, and targeted therapies aimed at reducing the risk of cancer development or treating cancer in high-risk individuals and their family members. Strategies for identification and management of Lynch syndrome and hereditary breast and ovarian canc...
Source: JAMA - Category: General Medicine Source Type: research
Abstract Choosing the optimal therapy for a patient's cancer has long been based on whether the cancer demonstrates a predictive marker of efficacy. The U.S. Food and Drug Administration (FDA) has now approved use of a targeted therapy based solely on tumor molecular markers (pembrolizumab for tumors with deficient mismatch repair [MMR] and high microsatellite instability [MSI]) and approved another therapy based solely on a germline mutation as the predictive marker of benefit (olaparib for BRCA carriers with ovarian or breast cancer) [New Engl J Med 2017;377:1409-1412, N Engl J Med 2012;366:1382-1392, N Eng J Me...
Source: The Oncologist - Category: Cancer & Oncology Authors: Tags: Oncologist Source Type: research
CONCLUSION: Ovarian cancer in women with LS has a wide age-range of onset, is usually diagnosed at an early stage with predominantly endometrioid type histology and a good overall survival. The early stage at diagnosis could not be attributed to annual gynecological surveillance. PMID: 29880284 [PubMed - as supplied by publisher]
Source: Gynecologic Oncology - Category: Cancer & Oncology Authors: Tags: Gynecol Oncol Source Type: research
AbstractFollowing the identification in a proband of a germlineBRCA1/BRCA2 mutation in hereditary breast-ovarian cancer (HBOC) or a DNA mismatch repair gene mutation in Lynch syndrome (LS) he or she will be asked to inform at-risk family members about the option for presymptomatic DNA testing. However, in clinical practice multiple factors may complicate the process of information sharing. We critically evaluated studies on the uptake of presymptomatic genetic testing in both syndromes. A search of relevant MeSH terms and key words in PubMed, Embase and PsycINFO yielded 795 articles published between 2001 and 2017. Thirty ...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
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