Advanced Search Results For "Genetic Predisposition to Disease"
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Genetic variability shapes the alternative pathway complement activity and predisposition to complement-related diseases.
Publication Type: Academic Journal
Source(s): Immunological reviews [Immunol Rev] 2023 Jan; Vol. 313 (1), pp. 71-90. Date of Electronic Publication: 2022 Sep 11.
Abstract: The implementation of next-generation sequencing technologies has provided a sharp picture of the genetic variability in the components and regulators of the alternative pathway (AP) of the complement system and has revealed the association of many AP ...
How should we address the inevitable harms from non-negligent variant reclassification in predictive genetic testing?
Publication Type: Academic Journal
Source(s): Journal of genetic counseling [J Genet Couns] 2023 Feb; Vol. 32 (1), pp. 18-30. Date of Electronic Publication: 2022 Oct 19.
Abstract: The process of interpreting genetic variants, in which experts use all available evidence to determine whether an identified variant is associated with a current or future disease, is both scientific and nevertheless subjective. In this paper, we summa...
Racial and ethnic variation in BRCA1 and BRCA2 genetic test results among individuals referred for genetic counseling at a large urban comprehensive cancer center.
Publication Type: Academic Journal
Source(s): Cancer causes & control : CCC [Cancer Causes Control] 2023 Feb; Vol. 34 (2), pp. 141-149. Date of Electronic Publication: 2022 Nov 12.
Abstract: Purpose: The prevalence of pathogenic variants in BRCA1 and BRCA2 in populations other than Ashkenazi Jewish (AJ) is not well defined. We describe the racial and ethnic-specific prevalence of BRCA1/2 pathogenic variants and variants of uncertain signif...
Investigation of mutations in Fanconi anemia genes and malignancy predisposition in Brazilian patients.
Publication Type: Academic Journal
Source(s): International journal of laboratory hematology [Int J Lab Hematol] 2023 Feb; Vol. 45 (1), pp. 82-89. Date of Electronic Publication: 2022 Nov 05.
Abstract: Introduction: This study proposed to identify Fanconi anemia (FA) mutations in Brazilian patients and to investigate their impact on clinical manifestations and malignancies onset.Methods: A total of 116 patients were screened for nine mutations in FAN...
Genetic landscape of ALS in Malta based on a quinquennial analysis.
Publication Type: Academic Journal
Source(s): Neurobiology of aging [Neurobiol Aging] 2023 Mar; Vol. 123, pp. 200-207. Date of Electronic Publication: 2022 Nov 23.
Abstract: Genetic risk for amyotrophic lateral sclerosis (ALS) is highly elevated in genetic isolates, like the island population of Malta in the south of Europe, providing a unique opportunity to investigate the genetics of this disease. Here we characterize th...
Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake.
Publication Type: Academic Journal
Source(s): Familial cancer [Fam Cancer] 2023 Jan; Vol. 22 (1), pp. 91-97. Date of Electronic Publication: 2022 Jun 17.
Abstract: Germline genetic testing is recommended for all patients with pancreatic cancer (PC) but uptake rates are low. We implemented a mainstreaming program in oncology clinics to increase testing for PC patients. Genetic counselors trained oncology providers...
Rare-variant genetic architecture.
Publication Type: Academic Journal
Source(s): Nature genetics [Nat Genet] 2023 Mar; Vol. 55 (3), pp. 327.
Genetic variation in TERT modifies the risk of hepatocellular carcinoma in alcohol-related cirrhosis: results from a genome-wide case-control study.
Publication Type: Academic Journal
Source(s): Gut [Gut] 2023 Feb; Vol. 72 (2), pp. 381-391. Date of Electronic Publication: 2022 Jul 04.
Abstract: Objective: Hepatocellular carcinoma (HCC) often develops in patients with alcohol-related cirrhosis at an annual risk of up to 2.5%. Some host genetic risk factors have been identified but do not account for the majority of the variance in occurrence. ...
Fatalism and metaphor in Confucianism: A qualitative study of barriers to genetic testing among first-degree relatives of hereditary cancer patients from China.
Publication Type: Academic Journal
Source(s): Psycho-oncology [Psychooncology] 2023 Feb; Vol. 32 (2), pp. 275-282. Date of Electronic Publication: 2022 Nov 19.
Abstract: Objective: Despite the benefits, the rate of genetic testing among first-degree relatives (FDRs; parents, children, and siblings) remains low, and the barriers to undergoing testing among FDRs in China are not clear. We explored the reasons why FDRs re...
Heritable defects in telomere and mitotic function selectively predispose to sarcomas.
Publication Type: Academic Journal
Source(s): Science (New York, N.Y.) [Science] 2023 Jan 20; Vol. 379 (6629), pp. 253-260. Date of Electronic Publication: 2023 Jan 19.
Abstract: Cancer genetics has to date focused on epithelial malignancies, identifying multiple histotype-specific pathways underlying cancer susceptibility. Sarcomas are rare malignancies predominantly derived from embryonic mesoderm. To identify pathways specif...