Hereditary cancer
Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS)
... Approximately 5 to 10% of all cancers are caused by inherited germline mutations and are termed Heredi- tary Cancer (HC) [1–3]. HC is generally driven by a single mutated gene which confers increased risk of ...
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Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines
... Hereditary cancer predisposition syndromes comprise approximately 10% of diagnosed cancers; however, familial forms are believed to account for up to 30% of some ...diagnosed hereditary cancers ...
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Patients with pathogenic variants for breast cancer other than BRCA1 and BRCA2: qualitative interviews about health care experiences
... gesting hereditary cancer ...test, hereditary breast cancer panel, and hereditary breast and gynecologic cancer gene panel from January 2012 through May 2018; genes in- cluded ...
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Protocol for implementation of family health history collection and decision support into primary care using a computerized family health history system
... for hereditary thrombophilia, 2) appropriate referrals to genetic counseling for risk of hereditary cancer syndromes, and 3) appropriate screen- ing rates for breast cancer, colon ...
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CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein
... Background: Lynch syndrome is a hereditary cancer predisposition syndrome caused by a mutation in one of the DNA mismatch repair (MMR) genes. About 24% of the mutations identified in Lynch syndrome are ...
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Hereditary pancreatic cancer: related syndromes and clinical perspective
... pancreatic cancer in relatives have found that first degree relatives have almost a two-fold increased risk of developing PDAC and also that this risk seems to be proportional to the number of first-degree ...
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Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
... the Hereditary Cancer Research Registry (COH-CCGCRN) is supported in part by Award Number RC4CA153828 (PI: ...National Cancer Institute and the Office of the Director, National Institutes of ...by ...
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Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays
... the hereditary cancer susceptibility disease Lynch syndrome (LS) is caused by deleterious germline mutations in the DNA mismatch repair (MMR) genes nearly 20 years ago, genetic testing can now be used to ...
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Familial gastric cancer: detection of a hereditary cause helps to understand its etiology
... known hereditary cancer syndromes, besides ...ovarian cancer [27,28], familial aden- omatous polyposis (FAP) [29-31], MUTYH-associated adenomatous polyposis (MAP) [32], juvenile polyposis syndrome ...
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The genetic basis of Lynch syndrome and its implications for clinical practice and risk management
... with hereditary cancer predisposition, is now the accepted and preferred term to describe a hereditary syndrome caused by germline mutations that disrupt the function of an MMR ...
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Population screening for hereditary and familial cancer syndromes in Valka district of Latvia
... tary cancer is careful analysis of the family cancer his- tory and search for mutations in a patient receiving tumour treatment ...own cancer risk and undergo appropriate diagnostic ...detect ...
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Protocol for the “Implementation, adoption, and utility of family history in diverse care settings” study
... (hereditary cancer syndromes, breast cancer, ovarian cancer, colon cancer, and throm- bosis), was successfully piloted in three Cone Health community-based primary care clinics (two ...
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Malignant phyllodes tumor in Lynch syndrome: a case report
... Case presentation: Our patient was a 43-year-old Caucasian woman who felt a lump in her left breast and was found to have a spindle cell neoplasm. Definitive surgery revealed a malignant phyllodes tumor. On the basis of ...
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Hereditary Colorectal Cancer (CRC) Program in Latvia
... into hereditary cancers in Latvia began almost ten years ago ...on hereditary cancer syndromes became more widely accepted in 1998, when the Department of Surgery, Riga Stradins University was ...
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Hereditary risk factors for the development of gastric cancer in younger patients
... Gastric cancer is the second most common cause of can- cer-related death in the world ...Gastric cancer rarely occurs before the age of ...This cancer alone is the cause of more than 750,000 deaths ...
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A short guide to hereditary diffuse gastric cancer
... a cancer may be missed on ...gastric cancer risk factors such as salted, cured, preserved foods or smoking, to consume more fruit and vegetables, and to increase general fitness ...
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Hereditary Colorectal Cancer Syndromes in Hong Kong: a Registry's Perspective
... Because MSI is a hallmark of CRC associated with MMR defects and it occurs in the vast majority of CRC in HNPCC [6], we investigated the distinct clinical features associated with MSI in young (<50 years old) Chinese ...
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Thymidylate synthase gene (TYMS) polymorphisms in sporadic and hereditary breast cancer
... of hereditary breast can- cer (HBC) susceptibility can be attributed to germline mutations of to Breast Cancer 1 and Breast Cancer 2 genes (BRCA1 and BRCA2), which are responsible for 30-40% of ...
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Unusual presentation of Lynch Syndrome
... colon cancer at 48 years (a T 1 tumour, treated with a sub- total colectomy) and prostate cancer at 50 years treated with ...prostate cancer in the proband's close relatives (Figure ...breast ...
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Genetic Screening for Familial Gastric Cancer
... gastric cancer [52, ...Gastric cancer families that were screened for RUNX3 and HPP1, do not show germline mutations in both genes, suggesting that RUNX3 and HPP1 are not important alternative gastric ...
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