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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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This article presents a rare clinical of a 61-year-old female diagnosed with extracolonic Lynch syndrome with six metachronous tumours acquiring in digestive tract during the period from 1993 to 2014 (over 21 years). No other cases of six primary malignancies in patient with Lynch syndrome have been reported in literature. Upon diagnosis of Lynch syndrome, it is important to screen patient for malignancies of different localization as this syndrome predisposes appearance of various cancers at earlier age than in general population. PMID: 28938854 [PubMed - as supplied by publisher]
Source: Acta Chirurgica Belgica - Category: Surgery Tags: Acta Chir Belg Source Type: research
• In a large cohort of individuals at risk for a hereditary cancer syndrome, 6.7% were identified with one or more pathogenic variants.• The largest proportion of findings were in BRCA1 and BRCA2 (42.2%), followed by additional breast cancer-risk genes (32.9%), the Lynch syndrome genes (13.2%), and ovarian cancer-risk genes (6.8%).• Depending on the gene group, 1.3%-56.8% of clinically significant findings were “unexpected” in the context of the individual's personal and family cancer history and would likely have been missed by single-syndrome or single-cancer testing.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research
AbstractInterpretation of next-generation sequencing (NGS) of tumor tissue in patients with advanced Urinary Tract Cancer (UTC) is performed to guide treatment selection but may reveal pathogenic variants with germline implications. We identified three patients with UTC with unexpected germline DNA repair gene mutations. Specific testing for these was prompted by the detection of these mutations by tumor NGS. All three patients were nonsmokers with a strong family history of cancer. Two patients had upper tract UTC with age at diagnosis in the 40  s. One had a family history suggestive of hereditary breast/ovarian pre...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
Authors: Abstract Ovarian cancer is the second most common type of female reproductive cancer, and more women die from ovarian cancer than from cervical cancer and uterine cancer combined. Currently, there is no strategy for early detection of ovarian cancer that reduces ovarian cancer mortality. Taking a detailed personal and family history for breast, gynecologic, and colon cancer facilitates categorizing women based on their risk (average risk or high risk) of developing epithelial ovarian cancer. Women with a strong family history of ovarian, breast, or colon cancer may have hereditary breast and ovarian canc...
Source: Obstetrics and Gynecology - Category: OBGYN Tags: Obstet Gynecol Source Type: research
CONCLUSION: The strongest predictor of EC risk was closer relatedness and younger EC diagnosis age in ≥1 relative. Associations remained significant irrespective of proband MMR status, and after excluding MMR pathogenic variant carriers, indicating that Lynch syndrome genes do not fully explain familial EC risk. PMID: 28822557 [PubMed - as supplied by publisher]
Source: Gynecologic Oncology - Category: Cancer & Oncology Authors: Tags: Gynecol Oncol Source Type: research
Two studies on Lynch syndrome highlight cancer screening and surveillance opportunities.
Source: CancerNetwork - Category: Cancer & Oncology Authors: Tags: Colorectal Cancer Endometrial Cancer Gastrointestinal Cancer Gynecologic Cancers News Ovarian Cancer Source Type: news
Authors: Welinsky S, Lucas AL Abstract Pancreatic cancer (PC) is the third most common cause of cancer-related death in the United States and the 12th most common worldwide. Mortality is high, largely due to late stage of presentation and suboptimal treatment regimens. Approximately 10% of PC cases have a familial basis. The major genetic defect has yet to be identified but may be inherited by an autosomal dominant pattern with reduced penetrance. Several known hereditary syndromes or genes are associated with an increased risk of developing PC and account for approximately 2% of PCs. These syndromes include the he...
Source: Gut and Liver - Category: Gastroenterology Tags: Gut Liver Source Type: research
AbstractPurposeThis manuscript reports the consensus recommendations on screening and diagnosis of Lynch syndrome (LS) in patients with endometrial or ovarian cancer as well as on possible preventive measures in effectively LS-diagnosed women. The recommendations are issued by the Austrian Arbeitsgemeinschaft f ür Gynäkologische Onkologie (AGO) of the Österreichischen Gesellschaft für Gynäkologie und Geburtshilfe (OEGGG) after consultation of the most recent and relevant literature and following deliberation by the Genetic Task-Force convoked May, 2015 by the AGO Council.Results and conclusionThe A...
Source: Archives of Gynecology and Obstetrics - Category: OBGYN Source Type: research
Although Lynch syndrome is thought to increase the risk of colorectal and/or uterine cancer, certain mutations may confer an increased risk of breast or ovarian cancer, researchers say.Reuters Health Information
Source: Medscape Medical News Headlines - Category: Consumer Health News Tags: Hematology-Oncology News Source Type: news
Abstract Pancreatic cancer is a growing problem in oncology, given slowly rising incidence and continued suboptimal outcomes. A concerted effort to reverse this tide will require prevention, early diagnosis, and improved systemic therapy for curable disease. We focus on these aspects in detail in this study. Hereditary pancreatic cancer is an underappreciated area. With the growing use of genomics (both somatic and germline) in cancer care, there is increasing recognition of hereditary pancreatic cancer cases: around 10% of all pancreatic cancer may be related to familial syndromes, such as familial atypical multi...
Source: Clinical Genitourinary Cancer - Category: Cancer & Oncology Authors: Tags: Am Soc Clin Oncol Educ Book Source Type: research
More News: Cancer | Cancer & Oncology | Genetics | HNPCC | Lynch Syndrome | Ovarian Cancer | Ovaries | Women