Hereditary colorectal cancer: genetics and screening diagnostics
Российский журнал гастроэнтерологии, гепатологии, колопроктологии, 2018 Aim of review. To present the data on main forms of hereditary colorectal cancer (CRC) and to discuss issues of its diagnostics, genetic testing and patient management. Summary.
O. I. Kit +6 more
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The Genetic Psychosocial Risk Instrument (GPRI): A Validation Study for European Portuguese
Acta Médica Portuguesa, 2022 Introduction: Screening instruments specifically developed to identify genetic testing applicants who may need professional psychosocial support are much needed. However, there are no screening instruments validated for the Portuguese language.
Pedro Gomes +6 more
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Missense mutations in the perforin (PRF1) gene as a cause of hereditary cancer predisposition [PDF]
, 2016 Perforin, a pore-forming toxin released from secretory granules of NK cells and CTLs, is essential for their cytotoxic activity against infected or cancerous target cells.
Chaudhry, MS +7 more
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The differential diagnosis of chorea [PDF]
, 2007 Chorea is a hyperkinetic movement disorder characterised by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the ...
Tabrizi, SJ, Wild, EJ
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Familial Pancreatic Cancer and the Future of Directed Screening
Gut and Liver, 2017 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
Sara Welinsky, Aimee L. Lucas
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Revista Médica Clínica Las Condes, 2017 Assessment for hereditary susceptibility to cancer is considered standard of care, as it impacts not only a clinician's understanding of cancer causation but also options for prevention and treatment.
Charité Ricker, MS, LCGC
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Safety and efficacy of chemoprevention for familial adenomatous polyposis: a systematic review and meta-analysis [PDF]
Annals of ColoproctologyPurpose Familial adenomatous polyposis is a hereditary condition that predisposes individuals to colorectal cancer. This study aimed to evaluate the efficacy and safety of pharmacological therapies for reducing polyp number, burden, and size in ...
Francisco Tustumi +8 more
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Increased risk for uterine cancer among first-degree relatives to Swedish gastric cancer patients
Hereditary Cancer in Clinical Practice, 2020 Purpose In order to further understand genetically predisposing factors of gastric cancer, a retrospective study on 107 patients with gastric cancer was conducted.
Johanna Samola Winnberg +7 more
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Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome [PDF]
, 2010 Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions.
Bena, F +23 more
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Renal cell carcinoma in tuberous sclerosis complex [PDF]
, 2014 Renal cell carcinoma (RCC) occurs in 2% to 4% of patients with tuberous sclerosis complex (TSC). Previous reports have noted a variety of histologic appearances in these cancers, but the full spectrum of morphologic and molecular features has not been ...
Cheng, Liang +17 more
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