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8478 search results for:

Hereditary Syndromes 

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  1. 08-04-2024 | Amyotrophic Lateral Sclerosis | Online First

    The motor band sign differentiates hereditary spastic paraplegia from the others upper motor neuron syndromes

  2. Open Access 12-04-2024 | Familial Adenomatous Polyposis | Online First

    Evaluation of EGFR and COX pathway inhibition in human colon organoids of serrated polyposis and other hereditary cancer syndromes

    Serrated polyposis syndrome (SPS) presents with multiple sessile serrated lesions (SSL) in the large intestine and confers increased colorectal cancer (CRC) risk. However, the etiology of SPS is not known. SSL-derived organoids have not been …

  3. 26-03-2024 | Online First

    Cascade genetic testing for hereditary cancer syndromes: a review of barriers and breakthroughs

    Germline genetic sequencing is now at the forefront of cancer treatment and preventative medicine. Cascade genetic testing, or the testing of at-risk relatives, is extremely promising as it offers genetic testing and potentially life-saving …

  4. Open Access 20-04-2024 | Online First

    Diet and physical activity behaviors: how are they related to illness perceptions, coping, and health-related quality of life in young people with hereditary cancer syndromes?

    Individuals with inherited cancer syndromes, such as Li-Fraumeni syndrome (LFS), may be motivated to adopt health-protective behaviors, such as eating more fruits and vegetables and increasing physical activity. Examining these health behaviors …

  5. Open Access 06-01-2024 | Hypercholesterolemia | Online First

    Cascade genetic counseling and testing in hereditary syndromes: inherited cardiovascular disease as a model: a narrative review

    Inherited cardiovascular diseases cover the inherited cardiovascular disease familial hypercholesterolemia and inherited cardiac diseases, like inherited cardiomyopathies and inherited arrhythmia syndromes. Cascade genetic counseling and testing …

  6. 30-07-2023 | Colorectal Cancer | OriginalPaper

    Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam

    In Vietnam, colorectal cancer is one of the top diagnosed cancers, with 5–10% originating from inherited mutations. This study aims to define the mutation spectrum associated with hereditary colorectal cancer syndromes (HCCS) in Vietnam, evaluate …

  7. 01-01-2022 | Carcinoid Tumor

    Genetic evaluation of patients and families with concern for hereditary endocrine tumor syndromes

    Hereditary endocrine tumor syndromes are rare conditions with overlapping features. It is imperative that healthcare providers differentiate between these syndromes for proper patient care. Advances in genetic testing technologies have increased …

  8. Open Access 01-12-2021 | Hereditary Syndromes | OriginalPaper

    Advanced adenomas may be a red flag for hereditary cancer syndromes

    Up to 10% [ 1 ] of all colorectal cancers (CRCs) and 16% [ 2 ] of CRCs diagnosed under the age of 50 are associated with a germline pathogenic variant in a cancer predisposition gene. It is extremely important to identify these patients because …

  9. 01-09-2021 | Hereditary Syndromes

    Precision Therapy for Brain Tumors in Hereditary Syndromes

    Nervous system tumors arising in the setting of monogenic, hereditary cancer predisposition syndromes are unique in that the initiating genetic event in tumor formation is known. This knowledge provides a powerful treatment approach if the …

  10. Open Access 01-12-2021 | Colorectal Cancer | ReviewPaper

    Danish guidelines for management of non-APC-associated hereditary polyposis syndromes

    Hereditary Polyposis Syndromes are a group of rare, inherited syndromes characterized by the presence of histopathologically specific or numerous intestinal polyps and an increased risk of cancer. Some polyposis syndromes have been known for …

  11. Open Access 01-12-2021 | Breast Cancer | ReviewPaper

    Risk reduction strategies for BRCA1/2 hereditary ovarian cancer syndromes: a clinical practice guideline

    In 2020, ovarian cancer will account for 4.9% of deaths from cancer in Canada [ 1 ]. Approximately 5 to 15% of these cancers will occur in women with the BRCA1 and BRCA2 genes [ 1 ]. In women with a hereditary ovarian cancer syndrome the cumulative …

  12. Open Access 01-12-2021 | Acute Lymphoblastic Leukemia | OriginalPaper

    Implications of ACMG guidelines to identify high-risk acute lymphoblastic leukemia patients with hereditary cancer susceptibility syndromes (HCSS) in a highly consanguineous population

    According to the global cancer observatory 2018, Asia is the most leukemia burdened region in the world with an incidence of 48.7% and a mortality rate of 53.7% of overall cases reported worldwide [ 1 ]. In Pakistan, acute lymphoblastic leukeima …

  13. 01-03-2021 | Celecoxib

    Updates in Chemoprevention Research for Hereditary Gastrointestinal and Polyposis Syndromes

    Colorectal cancer (CRC) is one of the most common tumors of adults and is a global health priority. In the United States (US), the incidence of CRC is estimated to surpass 140,000 in 2020, with a substantial minority of cases being diagnosed at an …

  14. 01-02-2021 | Hereditary Syndromes | OriginalPaper

    Retrospective investigation of hereditary syndromes in patients with medulloblastoma in a single institution

    Medulloblastoma (MB) is a malignant intracranial tumor that is typically detected and diagnosed in childhood. Approximately 400 new MB cases are diagnosed in the US annually [ 1 ]. The 2016 WHO pathogenic classification includes five histologically …

  15. 01-06-2020 | Hereditary Syndromes | ReviewPaper

    Hereditary Syndromes in Neuroendocrine Tumors

    Oncologists should be able to discern the salient clinical features of the most common germline mutations that give rise to neuroendocrine tumors. Astute recognition of an index patient affected by a hereditary syndrome can lead to a …

  16. 01-12-2019 | Esophagogastroduodenoscopy | ReviewPaper

    Hereditary Polyposis Syndromes

    Colorectal cancer (CRC) is the third most common cancer in both men and women in the USA (after excluding skin cancer). About 3–5% of all CRC is attributed to hereditary cancer syndromes, including Lynch syndrome, familial adenomatous polyposis …

  17. Open Access 01-12-2020 | Autoinflammatory Diseases | OriginalPaper

    Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative

    Autoinflammatory diseases (AIDs) comprise a heterogeneous group of genetically and/or clinically defined conditions characterized by unprovoked systemic inflammation causing fever episodes and inflammatory organ manifestations [ 1 , 2 ]. Mutations …

  18. Open Access 01-12-2019 | Breast Cancer | OriginalPaper

    Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations

    Hereditary cancer predisposition syndromes are responsible for approximately 5–10% of all diagnosed cancer cases [ 1 , 2 ]. Identifying those cases is important both for the patient and at risk relatives, with clinical management implications both …

  19. Open Access 01-12-2022 | Ovarian Cancer | OriginalPaper

    Retrospective assessment of barriers and access to genetic services for hereditary cancer syndromes in an integrated health care delivery system

    A critical step in access to genetic testing for hereditary cancer syndromes is a referral for genetic evaluation to assess personal and family risk. Referral to genetics is underutilized in US patients, particularly within underserved populations …

  20. 01-04-2022 | Coronavirus | OriginalPaper

    Hereditary colorectal cancer syndromes and the COVID-19 pandemic: results from a survey conducted in patients enrolled in a dedicated registry

    International awareness of a new, rapidly spreading infectious disease caused by a novel coronavirus (COVID-19) emerged in December 2019 after an outbreak in Wuhan, China [ 1 – 4 ]. COVID-19 was declared a global pandemic by the World Health …

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