Lynch Syndrome –Associated Ovarian Cancer Presents Early, Has Good Prognosis

An analysis of Lynch syndrome –associated ovarian cancer found that the malignancy tends to present at an early stage and has a generally good prognosis.
Source: CancerNetwork - Category: Cancer & Oncology Authors: Tags: Gynecologic Cancers News Ovarian Cancer Source Type: news

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ConclusionsSomatic and germline analyses offered to OC patients has proved to be an efficient strategy for the identification of inherited conditions involving OC also in absence of suggestive family histories. The identification of LS and HBOC syndromes through OC patients is an effective tool for OC prevention.
Source: Cancer Genetics - Category: Cancer & Oncology Source Type: research
This review is an appraisal of the current state of knowledge of 2 enigmatic histotypes of ovarian carcinoma: endometrioid and clear cell carcinoma. Both show an association endometriosis and the hereditary nonpolyposis colorectal cancer (Lynch) syndrome, and both typically present at an early stage. Pathologic and immunohistochemical features that distinguish these tumors from high-grade serous carcinomas, each other, and other potential mimics are discussed, as are staging, grading, and molecular pathogenesis.
Source: Surgical Pathology Clinics - Category: Pathology Authors: Source Type: research
In this study, several biopsies from a patient-derived primary renal-cell carcinoma were analyzed by whole-exome sequencing and aligned to healthy tissue. Next to several shared mutations between different subclones, ca. 23% of the mutations were only found in specific regions of the tumor. Strikingly, a single biopsy of that same tumor only covered around 55% of the total mutational diversity, underlining the need for multi-region sampling. Tracing the order of mutations in different subclones revealed that they develop in a branching fashion from the primary tumor clone, harboring the driver mutation, rather than in a li...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Immunohistochemistry (IHC) for mismatch repair (MMR) proteins is an established test to identify Lynch syndrome (LS) in patients with colorectal cancer and is being increasingly used to identify LS in women with endometrial and/or nonserous ovarian cancer (OC). We assessed interobserver agreement in the interpretation of MMR-IHC on endometrial and ovarian carcinomas. The study consisted of 73 consecutive endometrial cancers (n=48) and nonserous, nonmucinous epithelial OCs (n=25). Six pathologists from 2 cancer centers, one with and the other without, previous experience in interpreting MMR-IHC, evaluated MLH1, MSH2, MSH6, ...
Source: The American Journal of Surgical Pathology - Category: Pathology Tags: Original Articles Source Type: research
Authors: Roberts MC, Mensah GA, Khoury MJ Abstract The integration of genomic data into screening, prevention, diagnosis, and treatment for clinical and public health practices has been slow and challenging. Implementation science can be applied in tackling the barriers and challenges as well as exploring opportunities and best practices for integrating genomic data into routine clinical and public health practice.In this article, we define the state of disparities in genomic medicine and focus predominantly on late-stage research findings. We use case studies from genetic testing for cardiovascular diseases (famil...
Source: Ethnicity and Disease - Category: International Medicine & Public Health Tags: Ethn Dis Source Type: research
Conclusions: This paper describes the processes and key findings of an international workshop on cancer predisposition cascade screening, which will guide the CASCADE study in Switzerland.Public Health Genomics
Source: Public Health Genomics - Category: Genetics & Stem Cells Source Type: research
Consumer genetics company 23andMe is diving deeper into the medical space. On Jan. 22, the company announced that the Food and Drug Administration (FDA) approved its newest report, which can flag whether people have genetic variants that may raise their risk of developing colorectal cancer. The new test looks for two gene variants associated with MUTYH-associated polyposis, an inherited colorectal cancer syndrome. “If left unchecked, carrying both of these variants or having two copies of one increases the risk of developing colorectal cancer to between 43 and 100 percent,” according to 23andMe. The test will b...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized Cancer healthytime Source Type: news
We describe, to our knowledge, the first case in the English literature of a premenopausal woman that presented with an ovarian endometrioid adenocarcinoma with focal yolk sac component and was subsequently found to have a germline MSH2 mutation confirming a diagnosis of Lynch syndrome. Concurrent diagnosis of ovarian endometrioid adenocarcinoma with yolk sac tumor and Lynch syndrome is an extremely rare finding in a young patient and requires careful follow-up. Genetics evaluation and testing may be reasonable for individuals with this rare or mixed tumor pathology at young age of onset and can have clinical utility in gu...
Source: Gynecologic Oncology Reports - Category: OBGYN Source Type: research
ConclusionsThe digital ID tool accurately matches NCCN criteria in one-to-one fashion to identify at-risk individuals for HCS and may be useful in clinical practice, specifically for BRCA-related HBOC and Lynch Syndrome.
Source: Hereditary Cancer in Clinical Practice - Category: Cancer & Oncology Source Type: research
Abstract Pancreatic ductal adenocarcinoma (PDAC) has a 5-year survival rate of only 8% and is estimated to be the second leading cause of cancer-related deaths by 2021. Prior convention held that screening for PDAC would not be beneficial; however, a deeper understanding of the carcinogenesis pathway supports a potential window of opportunity among the target population. Screening for PDAC is not a standard practice among the general population because of its low incidence. However, screening may be beneficial for individuals with familial history, chronic diseases with genetic predispositions, or inherited cancer...
Source: The American Journal of Pathology - Category: Pathology Authors: Tags: Am J Pathol Source Type: research
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