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Genomics & Health Impact Update

Volume 32  Number 20  May 21-29, 2014About the Update

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Reports and Publications


Doctor Explaining Diagnosis To Her Female Patient

Assessment of individuals with BRCA1 and BRCA2 large rearrangements in high-risk breast and ovarian cancer families
Arnold AG, et al. Breast Cancer Res Treat 2014 May

Connecting patients, researchers and clinical genetics services: the experiences of participants in the Australian Ovarian Cancer Study (AOCS)
Crook A, et al. Eur J Hum Genet 2014 May

Epidermal growth factor receptor tyrosine kinase (EGFR-TK) mutation testing in adults with locally advanced or metastatic non-small cell lung cancer: a systematic review and cost-effectiveness analysis
Westwood M, et al. Health Technol Assess 2014 May;18(32):1-166

Genetics, biomarkers, hereditary cancer syndrome diagnosis, heterogeneity and treatment: A review.
Lynch HT et al. Curr Treat Options Oncol. 2014 May 15

How harmful is genetic testing for familial adenomatous polyposis (FAP) in young children; the parents' experience
Kattentidt-Mouravieva AA, et al. Fam Cancer 2014 May

Intentions for risk-reducing surgery among high-risk women referred for BRCA1/BRCA2 genetic counseling
Tong A, et al. Psychooncology 2014 May

Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk
Ben Zhang et al, Nature Genetics, May 18, 2014

Modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: Systematic review and meta-analysis
Friebel TM, et al.  J Natl Cancer Inst (2014) 106 (6): dju091 May 13

Surgery Isn't only option for women with ovarian cancer genes, Health Day, May 16

Non–small cell lung cancer and precision medicine: A model for the incorporation of genomic features into clinical trial design
Pasche B, et al. JAMA 2014 May 12

The population impact of familial cancer, a major cause of cancer.
Frank C, et al.  Int J Cancer. 2014 Apr 15;134(8):1899-906.

The validation and clinical implementation of BRCAplus: A comprehensive high-risk breast cancer diagnostic assay
Chong HK, et al. PLoS One 2014;9(5):e97408

Using multiplexed assays of oncogenic drivers in lung cancers to select targeted drug
Kris MG, et al. JAMA 2014 May 21

Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine.
Van Allen EM, et al. Nat Med. 2014 May 18.

New approach to analyzing tumor genome promises expanded results, NIH News, May 19

Newborn Screening

Reviews, News & Commentaries

stacked papers

The hunt for missing genes.
Jocelyn Kaiser, Science 16 May 2014: Vol. 344 no. 6185 pp. 687-689

Towards structural systems pharmacology to study complex diseases and personalized medicine.
Lei Xie, et al. PloS Computational Biology. May 15, 2014

Genetic link between chronic pain conditions, by Dr Philippa Brice, PHG Foundation, May 21

Genetic risk prediction and neurobiological understanding of alcoholism
Levey DF, et al. Translational Psychiatry (2014) 4, e391 May 20

Potential predictive genetic test for alcoholism, by Dr Philippa Brice, PHG Foundation, May 21

NIH Research Matters:  Longevity gene linked to better brain skills, May 19

NIH Research Matters: Expanding the genetic alphabet, May 19

Genetic 'typo' corrector, by Meeri N. Kim,, May 18

Oncology community scrutinizing obstacles to personalized medicine, by Alicia Ault, Oncology Practice, May 15

The Angelina Jolie effect: One year later,  by Diane Mapes, Fred Hutchinson Cancer Center, Mat 14

Large panel genetic testing produces more questions than answers in breast cancer, Medical Xpress, May 14

Tools and Databases

numbers on a grid

The European Genome-phenome Archive stores genome and phenome data on over 100,000 people, from 200 centres and research groups from all around the world

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CDC-Authored Genomics Publications

hand holding a pen on an article

CDC authors are indicated in bold

Utilizing population controls in rare-variant case-parent association tests.
Jiang Y, Satten GA, Han Y, Epstein MP, Heinzen EL, Goldstein DB, Allen AS. Am J Hum Genet. 2014 May 14. pii: S0002-9297(14)00207-9.

Temporal changes in prevalence of molecular markers mediating antimalarial drug resistance in a high malaria transmission setting in Uganda
Mbogo GW, Nankoberanyi S, Tukwasibwe S, Baliraine FN, Nsobya SL, Conrad MD, Arinaitwe E, Kamya M, Tappero J, Staedke SG, Dorsey G, Greenhouse B, Rosenthal PJ. Am J Trop Med Hyg. 2014 May 5.

Divergent picobirnaviruses in human feces.
Ng TF, Vega E, Kondov NO, Markey C, Deng X, Gregoricus N, Vinjé J, Delwart E. Genome Announc. 2014 May 15;2(3). pii: e00415-14.

Full-genome analysis of avian influenza A(H5N1) virus from a human, North America, 2013
Pabbaraju K, Tellier R, Wong S, Li Y, Bastien N, Tang JW, Drews SJ, Jang Y, Davis CT, Fonseca K, Tipples GA. Emerg Infect Dis. 2014 May;20(5).

Donor-derived west nile virus infection in solid organ transplant recipients: report of four additional cases and review of clinical, diagnostic, and therapeutic features.
Winston DJ1, Vikram HR, Rabe IB, Dhillon G, Mulligan D, Hong JC, Busuttil RW, Nowicki MJ, Mone T, Civen R, Tecle SA, Trivedi KK, Hocevar SN; West Nile Virus Transplant-Associated Transmission Investigation Team. Transplantation. 2014 May 15;97(9):881-9.

View previous CDC-authored publications

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About the Genomics & Health Impact Update

The Update includes genomics and health impact news and publications, CDC announcements, reports, blogs, podcasts, and other products. The Update features genomic tests, family history, programs and practice, policy and legislation and public health science.  To receive the update electronically every week sign-up here.


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The CDC Office of Public Health Genomics makes available the above information as a public service only. The items in the update come from news articles and scientific articles and abstracts published during the past week. The headlines and lead sentences are exactly as they appear & do not necessarily reflect the opinions, recommendations, or endorsement by the CDC.  Note that some links may become invalid over time.


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