Results 11 to 20 of about 135,897 (310)
Use of family history taking for hereditary neoplastic syndromes screening in primary health care: A systematic review protocol. [PDF]
PLoS One, 2022 BackgroundAlthough most neoplasms result from complex interactions between the individual's genome and the environment, a percentage of cases is particularly due to inherited alterations that confer a greater predisposition to the development of tumors ...
Pessanha RM +3 more
europepmc +4 more sources
Diagnostics of hereditary cancer syndromes by ngs. A database creation experience [PDF]
Клиническая практика, 2021 Background: More than 500 thousand new cases of malignant neoplasms are registered annually in the Russian Federation, of which more than 50 thousand new cases are due to hereditary forms.
Ivan S. Abramov +8 more
doaj +1 more source
The importance of MIR-4328 gene mutations in Acute Promyelocytic Leukemia [PDF]
Documenta Haematologica, 2023 Introduction: miRNAs are involved in the pathogenesis of neoplastic syndromes by silencing target genes. As previously shown, hsa-mir-4328 is downregulated in Acute Promyelocytic Leukemia (APL).
Onda-Tabita CALUGARU +5 more
doaj +1 more source
Lynch-like Syndrome and its Molecular Approaches: A Brief Report and Literature Review [PDF]
Middle East Journal of Cancer, 2023 Lynch syndrome (LS) predisposes individuals to early-onset colorectal and other Lynch-associated cancer. This disorder is an autosomal dominant genetic disturbance caused by germline mutations in one of the mismatch repair genes.
Zeinab Abdollahi +3 more
doaj +1 more source
Frontiers in Genetics, 2023 Pheochromocytomas (PCCs) and paragangliomas (PGLs) (known as PPGL in combination) are rare neuroendocrine tumors of the adrenal medulla and extra-adrenal ganglia. About 40% of the patients with PPGL have a hereditary predisposition.
María Carolina Manotas +15 more
doaj +1 more source
Metastatic follicular thyroid cancer in a patient with Birt‐Hogg‐Dubé syndrome
Clinical Case Reports, 2021 Birt‐Hogg‐Dubé syndrome (BHDS) is an extremely rare genetic condition that predisposes to renal cell carcinoma. This case describes a novel case of a patient with BHDS who also develops follicular thyroid cancer.
Elisa K. Bongetti +3 more
doaj +1 more source
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
doaj +1 more source
Management of Patients with Hereditary Colorectal Cancer Syndromes
GE: Portuguese Journal of Gastroenterology, 2015 Colorectal cancer (CRC) is one of the most important causes of death in the world. Hereditary CRC is found in 5–10% of CRC patients. In this review, we will focus on the major forms of hereditary CRC and their management according to the most recent ...
Catarina Brandão, Jorge Lage
doaj +1 more source
Biomédica: revista del Instituto Nacional de Salud, 2016 El síndrome de Li-Fraumeni se caracteriza por la aparición de tumores en múltiples órganos, generalmente a temprana edad. Esta condición hereditaria es causada por mutaciones germinales en el gen TP53, que codifica el gen supresor tumoral p53.
Carlos Andrés Ossa +2 more
doaj +1 more source
Pediatric Hematology Oncology Journal, 2017 Introduction: Pseudo-achalasia (secondary achalasia): is a disorder produced by tumor at or near the gastro-esophageal junction, resulting in manifestation similar to those produced by achalasia.
Ramy Mohamed Ghazy
doaj +1 more source