Members with greater than 10 colonic polyps; or Members meeting criteria for serrated polyposis syndrome (SPS) (see below) with at least some adenomas; or Members first-degree relatives (i.e., siblings, parents, and offspring) with a documented deleterious MUTYH mutation. A clinical diagnosis of...
The two last genetic clusters of 8 and 9 variants respectively were found on the X chromosome, notably in a pseudo-autosomal region (PAR1), which is interestingly hit at a higher rate than the rest of the genome (P = 1.56 × 10−5, seeSupplementary Information). The top va...
Armstrong N, Gw Quek R, Ryder S, et al. DNA damage repair gene mutation testing and genetic counseling in men with/without prostate cancer: A systematic review. Future Oncol. 2021;17(7):853-864. Baars HF, Christiaans I, de Nijs PT, et al. Hypertrophic cardiomyopathy: DNA diagnosis, g...
We found putative causal effects of triglyceride-to-lipid ratio in very large very-low-density lipoprotein (VLDL)59[Pvalue = 5.09 × 10−3, OR (95% CI) = 1.08 (1.02, 1.13), number of SNPs = 52], type 2 diabetes60[Pvalue = 1.96 × 10−2, OR (95...
Variants that result in increased activity of LRRK2 have been shown to be associated with an elevated risk of developing both PD and CD, whilst a haplotype with a deactivating LRRK2 mutation, R1398H, has been found to be associated with protection against CD [5] and PD [10,11,12]. ...
Patients were identified by ICD-10 codes associated with hereditary disposition of malignancy (Z15.01, Z15.02, Z15.09, Z15.89, C50.919, Q99.8, C54.1). Patients with BRCA1 and BRCA2 pathogenic mutations with and without a personal history of cancer were included in this study; BRCA1/2 not ...
All cases met the Diagnostic and Statistical Manual for Mental Disorders fourth edition (DSM-IV) and ICD-10 criteria for schizophrenia. Diagnosis was made by Operational Criteria Checklist (OPCRIT). All case participants were outpatients or stable inpatients. Detailed medical and psychiatric histories ...
while no mutation or a VUS was reported in the other allele); 3) uncertain (only VUS were detected); 4) no findings (no mutations associated with the phenotype were found); 5) negative result, a designation reserved for cases in which the mutation of a relative with an identified pathog...
PGT-M is used when one or both parents carry a gene mutation and are at high risk of conceiving a child with a particular genetic disease. The term 'preimplantation genetic screening' (PGS) is now referred to as 'preimplantation genetic testing for aneuploidy' (PGT-A). PGT-A applies ...
0-72076 Tôbingen, Germany and f Department of Ecology and Genetics, University of Aarhus, Ny Munkegade, DK-8000 Aarhus C, Denmark A model for the genetic identity between diploid sexual populations is presented that considers simultaneously mutation and genetic drift as affecting gene frequencies...