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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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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
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
Source: Patient Education and Counseling - Category: International Medicine & Public Health Authors: Source Type: research
Genetic predisposition is a risk factor for ovarian and endometrial cancer. It is estimated that 13% of ovarian cancers are caused by germline mutations in genes such as BRCA1, BRCA2 and the mismatch repair genes associated with Lynch syndrome [1]. Approximately 2% of endometrial cancers are associated with hereditary dispositions such as Lynch syndrome [2,3]. It is an imperative to identify women with germline mutations because there are no effective screening tests for ovarian and endometrial cancers and risk-reducing strategies are available for women at high risk [4].
Source: Patient Education and Counseling - Category: International Medicine & Public Health Authors: Source Type: research
Publication date: November 2017 Source:Gynecologic Oncology Reports, Volume 22 Author(s): Neil A.J. Ryan, James Bolton, Rhona J. McVey, D. Gareth Evans, Emma J. Crosbie
Source: Gynecologic Oncology Reports - Category: OBGYN Source Type: research
AbstractPatients synchronously or metachronously presenting with ovarian and colon cancer can pose diagnostic challenges. A primary colon carcinoma can metastasize to one or both ovaries, two independent primary tumors can arise or an ovarian carcinoma can metastasize to the colon. Clinical and immunohistochemical characterization can aid the diagnosis. Recently, we reported that in difficult cases finding pathogenicAPC variants supports a colonic origin.In this case report we describe the clinical history of a female patient suspected for Lynch syndrome. She was diagnosed with a bilateral ovarian cancer at age 44, followe...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
Lynch syndrome (LS) is an inherited clinical syndrome characterized by a high risk of colorectal, endometrial (lifetime risk of up to 60%), ovarian and urinary tract cancers. The diagnosis is confirmed by identification of germline mutations in the DNA mismatch repair (MMR) genes MLH1, PMS2, MSH2, MSH6, or EPCAM. In 2015, our institution implemented universal screening of endometrial cancer hysterectomy specimens by MMR immunohistochemistry (IHC) with reflex MLH1 promoter hypermethylation analysis for tumors with loss of MLH1/PMS2 expression.
Source: Human Pathology - Category: Pathology Authors: Tags: Original contribution Source Type: research
More News: Cancer | Cancer & Oncology | Genetics | HNPCC | Lynch Syndrome | Ovarian Cancer | Ovaries | Women