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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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AbstractMultiple gastrointestinal cancers in a single patient is a rare entity. In our study, we are showing the clinical presentation and management of these patients. A fifty-nine-year-old asthenic male (already treated case of metachronous colorectal cancer in 2008 and 2011) presented with complaints of generalized weakness and fatigue. Strong family history was present with two of his first-degree relatives having diagnosed with gastrointestinal cancer at the age
Source: Indian Journal of Surgical Oncology - Category: Cancer & Oncology 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
Molecular changes preceding endometrial and ovarian cancer: a study of consecutive endometrial specimens from Lynch syndrome surveillance, Published online: 27 March 2018; doi:10.1038/s41379-018-0044-4Molecular changes preceding endometrial and ovarian cancer: a study of consecutive endometrial specimens from Lynch syndrome surveillance
Source: Modern Pathology - Category: Pathology Authors: Source Type: research
Authors: Suh DH, Kim M, Lee KH, Eom KY, Kjeldsen MK, Mirza MR, Kim JW Abstract In 2017, 10 topics were selected as major clinical research advances in gynecologic oncology. For cervical cancer, efficacy and safety analysis results of a 9-valent human papillomavirus (HPV) vaccine and long-term impact of reduced dose of quadrivalent vaccine were updated. Brief introduction of KEYNOTE trials of pembrolizumab, a monoclonal antibody that blocks the interaction between programmed death (PD)-1 and its ligands, PD-L1 and PD-L2, followed. Tailored surveillance programs for gynecologic cancer related with Lynch syndrome and ...
Source: Journal of Gynecologic Oncology - Category: OBGYN Tags: J Gynecol Oncol Source Type: research
CONCLUSION: This is the first study of screening for Lynch syndrome in ovarian cancer using clinical and family history in an Asian population. This approach may be effective for diagnosis in these patients. PMID: 29400022 [PubMed - as supplied by publisher]
Source: Journal of Gynecologic Oncology - Category: OBGYN Tags: J Gynecol Oncol 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
Conclusion: These results provide the actual percentage of family or personal history of cancer that can be attributed to pathogenic or likely pathogenic variants in one or more of the genes on our panel and corroborate the utility of multi-gene panels over sequential testing to identify individuals with an inherited predisposition to cancer. PMID: 29308099 [PubMed]
Source: Clinical Breast Cancer - Category: Cancer & Oncology Authors: Tags: Hered Cancer Clin Pract Source Type: research
ConclusionThese results provide the actual percentage of family or personal history of cancer that can be attributed to pathogenic or likely pathogenic variants in one or more of the genes on our panel and corroborate the utility of multi-gene panels over sequential testing to identify individuals with an inherited predisposition to cancer.
Source: Hereditary Cancer in Clinical Practice - Category: Cancer & Oncology Source Type: research
Microcystic, elongated, and fragmented (MELF) pattern invasion is a poor prognostic indicator in uterine endometrioid carcinoma, but its existence, biology, and prognostic value have not been described in ovarian endometrioid carcinoma. We evaluated cases of ovarian endometrioid carcinoma without synchronous uterine endometrioid carcinoma for MELF and other histologic features. To evaluate tumor biology, we assessed an immunohistochemical profile, including MLH1, PMS2, MSH2, MSH6, β-catenin, e-cadherin, CK19, and cyclin D1. A retrospective chart review evaluated clinical and demographic features and survival. The Fish...
Source: International Journal of Gynecological Pathology - Category: Pathology Tags: Pathology of the Upper Genital Tract: Original Articles Source Type: research
Abstract DNA repair pathways are essential for cellular survival as our DNA is constantly under assault from both exogenous and endogenous DNA damaging agents. Five major mammalian DNA repair pathways exist within a cell to maintain genomic integrity. Of these, the DNA mismatch repair (MMR) pathway is highly conserved among species and is well documented in bacteria. In humans, the importance of MMR is underscored by the discovery that a single mutation in any one of four genes within the MMR pathway (MLH1, MSH2, MSH6 and PMS2) results in Lynch syndrome (LS). LS is an autosomal dominant condition that predisposes ...
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
More News: Cancer | Cancer & Oncology | Genetics | HNPCC | Lynch Syndrome | Ovarian Cancer | Ovaries | Women