Volume 34 Number 13 April 2-9, 2015
Birth Defects and Child Health
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Mercimek-Mahmutoglu S et al. Epilepsia 2015 Mar 25.
Mercimek-Mahmutoglu S et al. Epilepsia 2015 Mar 25.
Positive family history, infection, low absolute lymphocyte count (ALC), and absent thymic shadow: Diagnostic clues for all molecular forms of severe combined immunodeficiency (SCID).
McWilliams LM et al. J Allergy Clin Immunol Pract 2015 Mar 27.
McWilliams LM et al. J Allergy Clin Immunol Pract 2015 Mar 27.
The Chhattisgarh state screening programme for the sickle cell gene: a cost-effective approach to a public health problem.
Patra PK et al. J Community Genet 2015 Mar 31.
Patra PK et al. J Community Genet 2015 Mar 31.
The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine.
Bowdin S C et al. Clin. Genet. 2015 Feb 25.
Bowdin S C et al. Clin. Genet. 2015 Feb 25.
Cancer
Assessing individual risk for high-risk colorectal adenoma at first-time screening colonoscopy.
Cao Y et al. Int. J. Cancer 2015 Mar 26.
Cao Y et al. Int. J. Cancer 2015 Mar 26.
Bilateral risk-reduction mastectomy in BRCA1 and BRCA2 mutation carriers: A meta-analysis.
De Felice F et al. Ann. Surg. Oncol. 2015 Mar 26.
De Felice F et al. Ann. Surg. Oncol. 2015 Mar 26.
Breast cancer risk after salpingo-oophorectomy in healthy BRCA1/2 mutation carriers: revisiting the evidence for risk reduction.
Heemskerk-Gerritsen BA, et al. J Natl Cancer Inst. 2015 Mar 18;107(5). pii: djv033.
Heemskerk-Gerritsen BA, et al. J Natl Cancer Inst. 2015 Mar 18;107(5). pii: djv033.
Cancer whole-genome sequencing: present and future.
Nakagawa H et al. Oncogene 2015 Mar 30.
Nakagawa H et al. Oncogene 2015 Mar 30.
Development and validation of a clinical score for predicting risk of adenoma at screening colonoscopy.
Shaukat A et al. Cancer Epidemiol. Biomarkers Prev. 2015 Mar 23.
Shaukat A et al. Cancer Epidemiol. Biomarkers Prev. 2015 Mar 23.
Genetically at-risk status and individual agency. A qualitative study on asymptomatic women living with genetic risk of breast/ovarian cancer.
Caiata-Zufferey M et al. Soc Sci Med 2015 Mar 19. 132141-148
Caiata-Zufferey M et al. Soc Sci Med 2015 Mar 19. 132141-148
Impact of melanoma genetic test reporting on perceived control over melanoma prevention.
Aspinwall LG et al. J Behav Med 2015 Mar 31.
Aspinwall LG et al. J Behav Med 2015 Mar 31.
Implementing a telephone based peer support intervention for women with a BRCA1/2 mutation.
Farrelly A et al. Fam. Cancer 2015 Mar 29.
Farrelly A et al. Fam. Cancer 2015 Mar 29.
Japanese Society of Medical Oncology Clinical guidelines: RAS (KRAS/NRAS) mutation testing in colorectal cancer patients.
Taniguchi H et al. Cancer Sci. 2015 Mar 106(3) 324-7
Taniguchi H et al. Cancer Sci. 2015 Mar 106(3) 324-7
Knowledge about breast cancer and hereditary breast cancer among nurses in a public hospital.
Prolla CM et al. Rev Lat Am Enfermagem 23(1) 90-7
Prolla CM et al. Rev Lat Am Enfermagem 23(1) 90-7
miR-Test: A blood test for lung cancer early detection.
Montani F, et al. J Natl Cancer Inst. 2015 Mar 19;107(6). pii: djv063.
Montani F, et al. J Natl Cancer Inst. 2015 Mar 19;107(6). pii: djv063.
One size may not fit all: The debate of universal tumor testing for Lynch syndrome.
Lu KH et al. Gynecol. Oncol. 2015 Apr 137(1) 2-3
Lu KH et al. Gynecol. Oncol. 2015 Apr 137(1) 2-3
Organoid modeling for cancer precision medicine
Cantrell M et al. Genome Medicine 2015, 7:32
Cantrell M et al. Genome Medicine 2015, 7:32
Society of gynecologic oncology recommendations for the prevention of ovarian cancer.
Walker JL et al. Cancer 2015 Mar 27.
Walker JL et al. Cancer 2015 Mar 27.
Survival benefit in women with BRCA1 mutation or familial risk in the MRI Screening Study (MRISC).
Saadatmand S et al. Int. J. Cancer 2015 Mar 26.
Saadatmand S et al. Int. J. Cancer 2015 Mar 26.
The Cancer Genome Atlas (TCGA): an immeasurable source of knowledge
Tomczak K, et al. Contemp Oncol (Pozn). 2015; 19(1A): A68?A77.
Tomczak K, et al. Contemp Oncol (Pozn). 2015; 19(1A): A68?A77.
Uncovering the clinical utility of miR-143, miR-145 and miR-224 for predicting the survival of bladder cancer patients following treatment.
Avgeris M et al. Carcinogenesis 2015 Mar 24.
Avgeris M et al. Carcinogenesis 2015 Mar 24.
Worse breast cancer prognosis of BRCA1/BRCA2 mutation carriers: What's the evidence? A systematic review with meta-analysis.
van den Broek AJ et al. PLoS ONE 2015 10(3) e0120189
van den Broek AJ et al. PLoS ONE 2015 10(3) e0120189
[PDF 530.16 KB]CAP, AMP among groups jointly issuing colorectal cancer molecular testing draft recommendations, Genome Web, Mar 30 [by free subscription only]
Genome Web, Mar 30 [by free subscription only]Chronic Diseases
Heterogeneous phenotype of Long QT Syndrome caused by the KCNH2-H562R mutation: Importance of familial genetic testing.
Muñoz-Esparza C et al. Rev Esp Cardiol (Engl Ed) 2015 Mar 25.
Muñoz-Esparza C et al. Rev Esp Cardiol (Engl Ed) 2015 Mar 25.
[The impact of screening sickle-cell carriers in the general population. A retrospective study in the Paris screening center].
Lainé A et al. Rev Epidemiol Sante Publique 2015 Mar 26.
Lainé A et al. Rev Epidemiol Sante Publique 2015 Mar 26.
Key to the heart - unlocking the genetics of heart disease may be complicated but not impossible,by Charlotte Huff, Genome
by Charlotte Huff, GenomeEthics, Policy and Law
Demographic differences in willingness to provide broad and narrow consent for biobank research.
Ewing AT et al. Biopreserv Biobank 2015 Mar 31.
Ewing AT et al. Biopreserv Biobank 2015 Mar 31.
Genomics in Practice
Changes in food group and nutrient intakes following a DNA-based dietary advice intervention for sodium intake
Nielsen D, et al. The FASEB Journal April 2015
Nielsen D, et al. The FASEB Journal April 2015
Consumers report lower confidence in their genetics knowledge following direct-to-consumer personal genomic testing.
Carere DA et al. Genet. Med. 2015 Mar 26.
Carere DA et al. Genet. Med. 2015 Mar 26.
Genetic linkage analysis in the age of whole-genome sequencing.
Ott J et al. Nat. Rev. Genet. 2015 Mar 31.
Ott J et al. Nat. Rev. Genet. 2015 Mar 31.
The effect of disease risk probability and disease type on interest in clinic-based versus direct-to-consumer genetic testing services.
Sherman K et al. J Behav Med 2015 Mar 27.
Sherman K et al. J Behav Med 2015 Mar 27.
Pharmacogenomics
Implementation and evaluation of a CYP2C19 genotype-guided antiplatelet therapy algorithm in high-risk coronary artery disease patients.
Lee JA et al. Pharmacogenomics 2015 Mar 16(4) 303-13
Lee JA et al. Pharmacogenomics 2015 Mar 16(4) 303-13
Improvements in CYP2C9 genotyping accuracy are needed: a report of the first proficiency testing for warfarin-related CYP2C9 and VKORC1 genotyping in China.
Lin G et al. J. Cardiovasc. Pharmacol. 2015 Mar 26.
Lin G et al. J. Cardiovasc. Pharmacol. 2015 Mar 26.
Potential use of auxiliary labels to promote patient awareness of pharmacogenetic testing.
Haga SB et al. Pharmacogenomics 2015 Mar 16(4) 299-301
Haga SB et al. Pharmacogenomics 2015 Mar 16(4) 299-301
Reproductive Health
Cell-free DNA analysis for noninvasive examination of trisomy.
Norton ME et al. N. Engl. J. Med. 2015 Apr 1.
Norton ME et al. N. Engl. J. Med. 2015 Apr 1.
Copy-number variation and false positive prenatal aneuploidy screening results.
Snyder MW, et al. N Engl J Med. 2015 Apr 1.
Snyder MW, et al. N Engl J Med. 2015 Apr 1.
Accurate description of DNA-based noninvasive prenatal screening
Cheung SW et al. N Engl J Med. 2015, April 1.
Cheung SW et al. N Engl J Med. 2015, April 1.
NIPT outperforms standard screening for T21 but false positives call for caution, NEJM studies find, Genome Web, Apr 1 [by free subscription only]
Genome Web, Apr 1 [by free subscription only]Is maternal plasma DNA testing impacting serum-based screening for aneuploidy in the United States?
Palomaki G et al. Genetics in Medicine, April 2, 2015
Palomaki G et al. Genetics in Medicine, April 2, 2015
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations
Dondorp Wet al. EJHG, April 1, 2015
Dondorp Wet al. EJHG, April 1, 2015
Pre-natal genetic counseling in a resource limited country--a single center geneticist's perspectives.
Afroze B et al. J Pak Med Assoc 2014 Sep 64(9) 1008-11
Afroze B et al. J Pak Med Assoc 2014 Sep 64(9) 1008-11
Reviews, News and Commentaries
Epidemiology's continuing contribution to public health: the power of "then and now".
Buck Louis GM, et al. Am J Epidemiol. 2015 Mar 25. pii: kwv043.
Buck Louis GM, et al. Am J Epidemiol. 2015 Mar 25. pii: kwv043.
Largest set of human genomes from a single population is sequenced.
Mayor S BMJ. 2015 Mar 27;350:h1720.
Mayor S BMJ. 2015 Mar 27;350:h1720.
Genetic linkage analysis in the age of whole-genome sequencing.
Ott J, et al. Nat Rev Genet. 2015 Mar 31.
Ott J, et al. Nat Rev Genet. 2015 Mar 31.
Resisting cancer, by George Klein, the Scientist, Apr 1
by George Klein, the Scientist, Apr 1Knocking out melanoma: Does this triple combo have what it takes? By Dr. Francis Collins, NIH Director’s Blog, Mar 31
By Dr. Francis Collins, NIH Director’s Blog, Mar 31NIH's Collins on changing the future of medicine, Medscape, Mar 31 [by free subscription only]
Medscape, Mar 31 [by free subscription only]NIH forms team of experts to chart course for the President’s Precision Medicine Initiative research network, NIH News, Mar 30
NIH News, Mar 30Ovarian cancer: Learning the risks, The New York Times, Mar 30
The New York Times, Mar 30Scientists create a new "roadmap" for the human epigenome, by Sara Cassidy, NIH, Mar 30
by Sara Cassidy, NIH, Mar 30Sizing up your genes, by Melanie Young, The Huffington Blog Post, Mar 29
by Melanie Young, The Huffington Blog Post, Mar 29Trying to fool cancer, by Mikkael A. Sekeres, The New York Times, Mar 28
by Mikkael A. Sekeres, The New York Times, Mar 28Genomics needs a killer app, by Mark Kaganovich, Tech Crunch, Mar 27
by Mark Kaganovich, Tech Crunch, Mar 27Genetics societies issue recommendations for fetal DNA tests, by Ricki Lewis, Medscape, Mar 27 [by free subscription only]
by Ricki Lewis, Medscape, Mar 27 [by free subscription only]
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