Fine-Scale Mapping of the 5q11.2 Breast Cancer Locus Reveals at Least Three Independent Risk Variants Regulating MAP3K1

Peer reviewe

Women and Editorial Leadership of Scientific and Academic Journals: An Explorative Study

The gender balance/imbalance in the governance of academic journals tied to the different scientific areas (i.e., the editorial board composition) represents a rather under investigated topic among the literature stream on diversity in top academic positions. Starting from this premise, the work aims to detect the gender (im)balance within the most prestigious international journals of Accounting. After having traced the theoretical background, the research design includes the empirical investigation focused on the Accounting journals ranked in the list proposed by the Association of Business Schools (ABS) in 2015 and included in the Italian ANVUR list (2017). Results confirm the underrepresentation of women in the editorial team and leadership positions of Accounting journals, as it happens in other fields included among the STEMs (such as Medicine or Math) or non-STEM disciplines (i.e., Management and Marketing). The work has scientific implications since it points out the limited potential of women scholars in covering governing roles and gaining worldwide visibility. Editorial board membership is in fact both a professional honour in recognition of achievements and an opportunity for professional advancement. Under an operational and political perspective, it contributes to nurturing the debate on the presence of an insidious discrimination that is often not easily recognized

Discovery of common and rare genetic risk variants for colorectal cancer

To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-genome sequencing of 1,439 cases and 720 controls, imputed discovered sequence variants and Haplotype Reference Consortium panel variants into genome-wide association study data, and tested for association in 34,869 cases and 29,051 controls. Findings were followed up in an additional 23,262 cases and 38,296 controls. We discovered a strongly protective 0.3% frequency variant signal at CHD1. In a combined meta-analysis of 125,478 individuals, we identified 40 new independent signals at P < 5 × 10 −8 , bringing the number of known independent signals for CRC to ~100. New signals implicate lower-frequency variants, Krüppel-like factors, Hedgehog signaling, Hippo-YAP signaling, long noncoding RNAs and somatic drivers, and support a role for immune function. Heritability analyses suggest that CRC risk is highly polygenic, and larger, more comprehensive studies enabling rare variant analysis will improve understanding of biology underlying this risk and influence personalized screening strategies and drug development. © 2018, This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply