scholarly journals Clinical management among individuals with variant of uncertain significance in hereditary cancer: A systematic review and meta‐analysis

2021 ◽  
Author(s):  
Sukh Makhnoon ◽  
Erica M. Bednar ◽  
Kate J. Krause ◽  
Susan K. Peterson ◽  
Maria A. Lopez‐Olivo
2021 ◽  
Author(s):  
Chenjie Zeng ◽  
Lisa A Bastarache ◽  
Ran Tao ◽  
Eric Venner ◽  
Scott Hebbring ◽  
...  

Knowledge of the clinical spectrum of rare genetic disorders helps in disease management and variant pathogenicity interpretation. Leveraging electronic health record (EHR)-linked genetic testing data from the eMERGE network, we determined the associations between a set of 23 hereditary cancer genes and 3017 phenotypes in 23544 individuals. This phenome-wide association study replicated 45% (184/406) of known gene-phenotype associations (P = 5.1 ×10-125). Meta-analysis with an independent EHR-derived cohort of 3242 patients confirmed 14 novel associations with phenotypes in the neoplastic, genitourinary, digestive, congenital, metabolic, mental and neurologic categories. Phenotype risk scores (PheRS) based on weighted aggregations of EHR phenotypes accurately predicted variant pathogenicity for at least 50% of pathogenic variants for 8/23 genes. We generated a catalog of PheRS for 7800 variants, including 5217 variants of uncertain significance, to provide empirical evidence of potential pathogenicity. This study highlights the potential of EHR data in genomic medicine.


2020 ◽  
Vol 159 ◽  
pp. 251-252
Author(s):  
X. Li ◽  
R.M. Kahn ◽  
A.I. Lackner ◽  
B. Baltich Nelson ◽  
H. Krinsky ◽  
...  

2021 ◽  
Author(s):  
Yali Wei ◽  
Yan Meng ◽  
Na Li ◽  
Qian Wang ◽  
Liyong Chen

The purpose of the systematic review and meta-analysis was to determine if low-ratio n-6/n-3 long-chain polyunsaturated fatty acid (PUFA) supplementation affects serum inflammation markers based on current studies.


2020 ◽  
Vol 90 (5-6) ◽  
pp. 535-552 ◽  
Author(s):  
Mahdieh Abbasalizad Farhangi ◽  
Mahdi Vajdi

Abstract. Backgrounds: Central obesity, as a pivotal component of metabolic syndrome is associated with numerous co-morbidities. Dietary factors influence central obesity by increased inflammatory status. However, recent studies didn’t evaluate the association between central obesity and dietary inflammation index (DII®) that give score to dietary factors according to their inflammatory potential. In the current systematic review and meta-analysis, we summarized the studies that investigated the association between DII® with central obesity indices in the general populations. Methods: In a systematic search from PubMed, SCOPUS, Web of Sciences and Cochrane electronic databases, we collected relevant studies written in English and published until 30 October 2019. The population of included studies were apparently healthy subjects or individuals with obesity or obesity-related diseases. Observational studies that evaluated the association between DII® and indices of central obesity including WC or WHR were included. Results: Totally thirty-two studies were included; thirty studies were cross-sectional and two were cohort studies with 103071 participants. Meta-analysis of observational studies showed that higher DII® scores were associated with 1.81 cm increase in WC (Pooled weighted mean difference (WMD) = 1.813; CI: 0.785–2.841; p = 0.001). Also, a non-significant increase in the odds of having higher WC (OR = 1.162; CI: 0.95–1.43; p = 0.154) in the highest DII category was also observed. In subgroup analysis, the continent, dietary assessment tool and gender were the heterogeneity sources. Conclusion: The findings proposed that adherence to diets with high DII® scores was associated with increased WC. Further studies with interventional designs are necessary to elucidate the causality inference between DII® and central obesity indices.


2020 ◽  
Vol 146 (5) ◽  
pp. 411-450 ◽  
Author(s):  
Tobias Markfelder ◽  
Paul Pauli

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