Genomes and Genes
Summary: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
- McGowan M, Cho D, Sharp R. The changing landscape of carrier screening: expanding technology and options?. Health Matrix Clevel. 2013;23:15-33 pubmed
- Sabath D. Molecular Diagnosis of Thalassemias and Hemoglobinopathies: An ACLPS Critical Review. Am J Clin Pathol. 2017;148:6-15 pubmed publisher..Globin disorders, techniques for their diagnosis, and the role of molecular genetic testing in managing patients with these disorders are described in detail...
- Sestak I, Cuzick J. Markers for the identification of late breast cancer recurrence. Breast Cancer Res. 2015;17:10 pubmed publisher..However, further research is needed to select individual biomarkers or multi-gene signatures that offer identification of late recurrence specifically and thus justify routine use of these tests in the clinical setting. ..
- Takahashi K, Nakajima K, Shino M, Toyoda M, Takayasu Y, Chikamatsu K. [Prediction of Post-operative Lymph Node Metastasis with a Molecular Biological Test in Head and Neck Cancer]. Nihon Jibiinkoka Gakkai Kaiho. 2015;118:135-9 pubmed..We concluded that the pathological test underestimated metastasis, and OSNA with MMP-7 was useful for the prediction of post-operative lymph node metastasis. ..
- Szopa M, Ludwig Gałęzowska A, Radkowski P, Skupien J, Zapała B, Płatek T, et al. Genetic testing for monogenic diabetes using targeted next-generation sequencing in patients with maturity-onset diabetes of the young. Pol Arch Med Wewn. 2015;125:845-51 pubmed..The screening with NGS should also include diabetic patients for whom Sanger-based screening for particular subtypes of MODY provided negative results. ..
- Farrell P, White T, Howenstine M, Munck A, Parad R, Rosenfeld M, et al. Diagnosis of Cystic Fibrosis in Screened Populations. J Pediatr. 2017;181S:S33-S44.e2 pubmed publisher..cftr2.org/index.php] should be used to aid with CF diagnosis. Finally, to avoid delays in treatment, we provide guidelines for presumptive diagnoses and recommend how to determine the age of diagnosis. ..
- Driscoll D, Salvin J, Sellinger B, Budarf M, McDonald McGinn D, Zackai E, et al. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet. 1993;30:813-7 pubmed..We conclude that FISH is an efficient and direct method for the detection of 22q11 deletions in subjects with features of DGS and VCFS as well as in pregnancies at high risk for a deletion. ..
- Krishna V, Diamond G, Kaul S. Do platelet function testing and genotyping improve outcome in patients treated with antithrombotic agents?: the role of platelet reactivity and genotype testing in the prevention of atherothrombotic cardiovascular events remains unproven. Circulation. 2012;125:1288-303; discussion 1303 pubmed publisher
- Nelson H, Pappas M, Zakher B, Mitchell J, Okinaka Hu L, Fu R. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: a systematic review to update the U.S. Preventive Services Task Force recommendation. Ann Intern Med. 2014;160:255-66 pubmed..To review new evidence on the benefits and harms of risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women...
- Raspa M, Wheeler A, Riley C. Public Health Literature Review of Fragile X Syndrome. Pediatrics. 2017;139:S153-S171 pubmed publisher..Despite a wealth of information about the condition, much work remains to fully support affected individuals and their families. ..
- Ã‡olak R, Alkan Ã–zdemir S, YangÄ±n Ergon E, KaÄŸnÄ±cÄ± M, Ã‡alkavur Å. A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C. Balkan Med J. 2017;34:580-583 pubmed publisher..This new pathogenic variant can be seen in glucose transporter type 1 deficiency syndrome. ..
- James P, Mitchell G, Bogwitz M, Lindeman G. The Angelina Jolie effect. Med J Aust. 2013;199:646 pubmed
- Hulur I, Skol A, Gamazon E, Cox N, Onel K. Integrative genetic analysis suggests that skin color modifies the genetic architecture of melanoma. PLoS ONE. 2017;12:e0185730 pubmed publisher..We speculate that incorporating skin color and other non-genetic factors into genetic studies may allow for an improved understanding of melanoma susceptibility and guide future investigations to identify melanoma risk genes...
- Agerholm J, Basse A, Christensen K. Investigations on the occurrence of hereditary diseases in the Danish cattle population 1989-1991. Acta Vet Scand. 1993;34:245-53 pubmed..The aberration occurred frequently in BAQ. Furthermore, a complex chromosome translocation t(1;8;9)(q45;q13;q26) was detected in the Red Danish Dairy breed. ..
- van der Wouden C, Carere D, Maitland van der Zee A, Ruffin M, Roberts J, Green R. Consumer Perceptions of Interactions With Primary Care Providers After Direct-to-Consumer Personal Genomic Testing. Ann Intern Med. 2016;164:513-22 pubmed publisher..National Institutes of Health. ..
- Kolor K, Chen Z, Grosse S, Rodriguez J, Green R, Dotson W, et al. BRCA Genetic Testing and Receipt of Preventive Interventions Among Women Aged 18-64 Years with Employer-Sponsored Health Insurance in Nonmetropolitan and Metropolitan Areas - United States, 2009-2014. MMWR Surveill Summ. 2017;66:1-11 pubmed publisherb>Genetic testing for breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) gene mutations can identify women at increased risk for breast and ovarian cancer...
- Harton G, Cinnioglu C, Fiorentino F. Current experience concerning mosaic embryos diagnosed during preimplantation genetic screening. Fertil Steril. 2017;107:1113-1119 pubmed publisher..Finally, an attempt is made to look to other fields of genetics to understand how this important issue can be dealt with as a group much better than any one individual group may be able to. ..
- Berg A, Coryell J, Saneto R, Grinspan Z, Alexander J, Kekis M, et al. Early-Life Epilepsies and the Emerging Role of Genetic Testing. JAMA Pediatr. 2017;171:863-871 pubmed publisherEarly-life epilepsies are often a consequence of numerous neurodevelopmental disorders, most of which are proving to have genetic origins. The role of genetic testing in the initial evaluation of these epilepsies is not established.
- Janz N, Becker M. The Health Belief Model: a decade later. Health Educ Q. 1984;11:1-47 pubmed..On the basis of the evidence compiled, it is recommended that consideration of HBM dimensions be a part of health education programming. Suggestions are offered for further research. ..
- Kersten E, Geerlings M, den Hollander A, de Jong E, Fauser S, Peto T, et al. Phenotype Characteristics of Patients With Age-Related Macular Degeneration Carrying a Rare Variant in the Complement Factor H Gene. JAMA Ophthalmol. 2017;135:1037-1044 pubmed publisher..Phenotypical characteristics could help ophthalmologists select patients for additional genetic testing. To describe the phenotypical characteristics of patients with AMD carrying a rare variant in the CFH gene...
- Diehl S, Kuo F, Hart T. Interleukin 1 genetic tests provide no support for reduction of preventive dental care. J Am Dent Assoc. 2015;146:164-173.e4 pubmed publisher..Further research is needed to identify genetic biomarkers with robust clinical validity and clinical utility to effectively personalize the practice of dentistry. ..
- Daly M, Pilarski R, Axilbund J, Buys S, Crawford B, Friedman S, et al. Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. J Natl Compr Canc Netw. 2014;12:1326-38 pubmed..on the assessment of genetic mutations in BRCA1/BRCA2, TP53, and PTEN, and recommend approaches to genetic testing/counseling and management strategies in individuals with these mutations...