Routes for breaching and protecting genetic privacy

We are entering the era of ubiquitous genetic information for research, clinical care, and personal curiosity. Sharing these datasets is vital for rapid progress in understanding the genetic basis of human diseases. However, one growing concern is the ability to protect the genetic privacy of the data originators. Here, we technically map threats to genetic privacy and discuss potential mitigation strategies for privacy-preserving dissemination of genetic data.Comment: Draft for comment

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.

Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype1-3. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P < 5.0 × 10-8), 15 of which showed evidence for associations with at least one tumor feature (false discovery rate < 0.05). Five loci showed associations (P < 0.05) in opposite directions between luminal and non-luminal subtypes. In silico analyses showed that these five loci contained cell-specific enhancers that differed between normal luminal and basal mammary cells. The genetic correlations between five intrinsic-like subtypes ranged from 0.35 to 0.80. The proportion of genome-wide chip heritability explained by all known susceptibility loci was 54.2% for luminal A-like disease and 37.6% for triple-negative disease. The odds ratios of polygenic risk scores, which included 330 variants, for the highest 1% of quantiles compared with middle quantiles were 5.63 and 3.02 for luminal A-like and triple-negative disease, respectively. These findings provide an improved understanding of genetic predisposition to breast cancer subtypes and will inform the development of subtype-specific polygenic risk scores

Characteristics Associated with Mammography Screening among Both Hispanic and Non-Hispanic White Women

Aims: This study explores whether certain population characteristics are associated with adherence to mammography screening guidelines among Hispanic and non-Hispanic white (NHW) women living in the southwestern United States. Methods: Participants in a population-based study (4-Corners\u27 Breast Cancer Study) included in this analysis were 790 Hispanic women and 1441 NHW women. Multivariate logistic regression was used to compute the ethnic-specific adjusted odds ratios (OR) and 95% confidence intervals (CI) for the association of the outcome variable (adherent vs. nonadherent) and its correlates. Women were adherent if they had obtained their first mammogram between 41 and 50 years of age and had received at least one mammogram per 2 years or less. Results: Ethnic-specific associations were observed with certain population characteristics and mammography adherence. Specifically, characteristics that were significantly associated with adherence among Hispanic women were younger age (50–59 years), having a family history of breast cancer, nulliparity, hormone replacement therapy (HRT) use, nonsteroidal anti-inflammatory drug (NSAID) use, and performing regular breast self-examinations (BSE). Among NHW women, younger age (50–59 years), family history of breast cancer, obesity, consuming moderate amounts of alcohol, and taking HRT were associated with mammography adherence. When adjusting for the evaluated population characteristics, the relationship between ethnicity and mammography adherence was no longer apparent. Conclusions: Ethnic-specific characteristics appear to explain differences in mammography adherence among Hispanic and NHW women. Disparities in screening rates, late-stage disease and breast cancer mortality that impact Hispanic women could potentially be addressed more effectively by interventions that specifically target the unique characteristics of the Hispanic population