Volume 35 Number 6 August 5-13, 2015
Human Genomics across the Lifespan
Birth Defects and Child Health
Clinically relevant copy number variations detected in cerebral palsy.
Oskoui M, et al. Nat Commun. 2015 Aug 3;6:7949.
Oskoui M, et al. Nat Commun. 2015 Aug 3;6:7949.
Genetics and neonatal diabetes: towards precision medicine.
Groop L. Lancet. 2015 Jul 28. pii: S0140-6736(15)61428-3.
Groop L. Lancet. 2015 Jul 28. pii: S0140-6736(15)61428-3.
The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.
De Franco E, et al. Lancet. 2015 Jul 28. pii: S0140-6736(15)60098-8.
De Franco E, et al. Lancet. 2015 Jul 28. pii: S0140-6736(15)60098-8.
Cancer
A clinically applicable molecular-based classification for endometrial cancers.
Talhouk A et al. Br. J. Cancer 2015 Jul 14. 113(2) 299-310
Talhouk A et al. Br. J. Cancer 2015 Jul 14. 113(2) 299-310
Molecular classification for endometrial cancer revisited, by Alexander M. Castellino, Medscape, Jul 30 [by free subscription only]
by Alexander M. Castellino, Medscape, Jul 30 [by free subscription only]American Gastroenterological Association Institute guideline on the diagnosis and management of Lynch syndrome.
Rubenstein JH et al. Gastroenterology 2015 Jul 27.
Rubenstein JH et al. Gastroenterology 2015 Jul 27.
American Gastroenterological Association Technical review on the diagnosis and management of Lynch syndrome.
Ladabaum U et al. Gastroenterology 2015 Jul 27.
Ladabaum U et al. Gastroenterology 2015 Jul 27.
[Cancer genetic counseling and quality of life: the effect of coping strategies and psychopathological symptoms during pre-test genetic counseling.]
Di Mattei VE et al. Recenti Prog Med 2015 Aug 106(8) 380-384
Di Mattei VE et al. Recenti Prog Med 2015 Aug 106(8) 380-384
Comparison of risk management strategies between women testing positive for a BRCA variant of unknown significance and women with known BRCA deleterious mutations.
Garcia C et al. Genet. Med. 2014 Dec 16(12) 896-902
Garcia C et al. Genet. Med. 2014 Dec 16(12) 896-902
Familial colorectal cancer risk may be lower than previously thought: A Danish cohort study.
Lautrup CK et al. Cancer Epidemiol 2015 Jul 26.
Lautrup CK et al. Cancer Epidemiol 2015 Jul 26.
Genetic testing for BRCA1 and BRCA2 in the Province of Ontario.
Finch A et al. Clin. Genet. 2015 Jul 29.
Finch A et al. Clin. Genet. 2015 Jul 29.
Genetic testing for patients with colorectal cancer.
Burki TK et al. Lancet Oncol. 2015 Jul 30.
Burki TK et al. Lancet Oncol. 2015 Jul 30.
Lynch syndrome: AGA patient guideline summary.
Gastroenterology 2015 Jul 26.
Gastroenterology 2015 Jul 26.
Performance characteristics of next-generation sequencing in clinical mutation detection of colorectal cancers.
Haley L et al. Mod. Pathol. 2015 Jul 31.
Haley L et al. Mod. Pathol. 2015 Jul 31.
Predictive factors for BRCA1 and BRCA2 genetic testing in an Asian clinic-based population.
Wong ESY et al. PLoS ONE 2015 10(7) e0134408
Wong ESY et al. PLoS ONE 2015 10(7) e0134408
Screening for pancreatic cancer in familial high-risk individuals: A systematic review.
Lu C et al. World J. Gastroenterol. 2015 Jul 28. 21(28) 8678-86
Lu C et al. World J. Gastroenterol. 2015 Jul 28. 21(28) 8678-86
Update on horizon scans of genetic tests currently available for clinical use in cancers
Rockville (MD):Agency for Healthcare Research and Quality (US) 2011 Apr 15.
Rockville (MD):Agency for Healthcare Research and Quality (US) 2011 Apr 15.
Chronic Diseases
Attitudes toward genetic testing for celiac disease.
Roy A et al. J Genet Couns 2015 Aug 2.
Roy A et al. J Genet Couns 2015 Aug 2.
Efficacy and safety of rosuvastatin therapy in children and adolescents with familial hypercholesterolaemia: results from the CHARON study
Braamskamp MJAM, et al. Journal of Clinical Lipidology 2015 Aug 1
Braamskamp MJAM, et al. Journal of Clinical Lipidology 2015 Aug 1
Genetic screening in sudden cardiac death in the young can save future lives.
Stattin EL et al. Int. J. Legal Med. 2015 Jul 31.
Stattin EL et al. Int. J. Legal Med. 2015 Jul 31.
Identifying and integrating consumer perspectives in clinical practice guidelines on autosomal dominant polycystic kidney disease.
Tong A et al. Nephrology (Carlton) 2015 Jul 31.
Tong A et al. Nephrology (Carlton) 2015 Jul 31.
Ethics, Policy and Law
Eugenics and mandatory informed prenatal genetic testing: A unique perspective from China.
Zhang D et al. Dev World Bioeth 2015 Jul 29.
Zhang D et al. Dev World Bioeth 2015 Jul 29.
So rare we need to hunt for them: reframing the ethical debate on incidental findings.
Schuol S et al. Genome Med 2015 7(1) 83
Schuol S et al. Genome Med 2015 7(1) 83
Genomics in Practice
How do research participants perceive "uncertainty" in genome sequencing?
Biesecker BB et al. Genet. Med. 2014 Dec 16(12) 977-80
Biesecker BB et al. Genet. Med. 2014 Dec 16(12) 977-80
Opinions of young adults on re-consenting for biobanking.
Rush A et al. J. Pediatr. 2015 Jul 30.
Rush A et al. J. Pediatr. 2015 Jul 30.
Perceptions of personalized medicine in an academic health system: Educational findings.
Vorderstrasse A et al. J Contemp Med Educ 3(1) 14-19
Vorderstrasse A et al. J Contemp Med Educ 3(1) 14-19
Pharmacogenomics
Participation in cancer pharmacogenomic studies: A study of 8456 patients registered to clinical trials in the cancer and leukemia group B (Alliance).
Dressler LG, et al. J Natl Cancer Inst. 2015 Jul 9;107(10). pii: djv188.
Dressler LG, et al. J Natl Cancer Inst. 2015 Jul 9;107(10). pii: djv188.
Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network.
Crosslin DR et al. Genome Med 2015 7(1) 67
Crosslin DR et al. Genome Med 2015 7(1) 67
Universal versus genotype-guided use of direct oral anticoagulants in atrial fibrillation patients: a decision analysis.
You JH et al. Pharmacogenomics 2015 Jul 31. 1-12
You JH et al. Pharmacogenomics 2015 Jul 31. 1-12
Reproductive Health
Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues.
Janssens S et al. Eur. J. Hum. Genet. 2015 Jul 29.
Janssens S et al. Eur. J. Hum. Genet. 2015 Jul 29.
Clients' perception of outcome of team-based prenatal and reproductive genetic counseling in Serbian service using the perceived personal control (PPC) questionnaire.
Cuturilo G et al. J Genet Couns 2015 Aug 4.
Cuturilo G et al. J Genet Couns 2015 Aug 4.
Clinical application of noninvasive prenatal testing for the detection of trisomies 21, 18, and 13: a hospital experience.
Zhou Q et al. Prenat. Diagn. 2014 Nov 34(11) 1061-5
Zhou Q et al. Prenat. Diagn. 2014 Nov 34(11) 1061-5
Variation in women's understanding of prenatal testing.
Bryant AS et al. Obstet Gynecol 2015 Jun 125(6) 1306-12
Bryant AS et al. Obstet Gynecol 2015 Jun 125(6) 1306-12
Reviews, News and Commentaries
Target validation: Genetic information adds supporting weight.
Cully M et al. Nat Rev Drug Discov 2015 Jul 31. 14(8) 525
Cully M et al. Nat Rev Drug Discov 2015 Jul 31. 14(8) 525
Where next for genetics and genomics?
Tyler-Smith C, et al. PLoS Biol. 2015 Jul 30;13(7):e1002216.
Tyler-Smith C, et al. PLoS Biol. 2015 Jul 30;13(7):e1002216.
I am so very, very lucky! The FH Foundation, Aug 4
The FH Foundation, Aug 4 With insurers reluctant to pay for genomic testing, some patients turning to crowdfunding,Genome Web, Aug 4 [by free subscription only]
Genome Web, Aug 4 [by free subscription only]Genome analysis stratifies prostate cancers, by Rebecca Bazeley, PHG Foundation, Jul 31
by Rebecca Bazeley, PHG Foundation, Jul 31PCR makes the jump to light speed, GEN, Jul 31
GEN, Jul 31Understanding the function of cancer risk variants: Challenges and opportunities, by Sharna Tingle and Stefanie Nelson, Cancer Epidemiology Matters Blog, NCI, Jul 31
by Sharna Tingle and Stefanie Nelson, Cancer Epidemiology Matters Blog, NCI, Jul 31Do all BRCA mutations come with the same cancer risk? Dana-Farber Cancer Institute, Jul 30
Dana-Farber Cancer Institute, Jul 30Five subtypes of prostate cancer identified, paving way for more personalized treatments, by Ariana Eunjung Cha, The Washington Post, Jul 30
by Ariana Eunjung Cha, The Washington Post, Jul 30Gene-disease association data could improve drug development, by Brenda Iglesias, NHGRI, Jul 30
by Brenda Iglesias, NHGRI, Jul 30How can precision medicine help children with cancer? By Srivani Ravoori, Cancer Research Catalyst Blog, Jul 29
By Srivani Ravoori, Cancer Research Catalyst Blog, Jul 29
.png)
No hay comentarios:
Publicar un comentario