Citations

Terminal duct lobular units (TDLUs) are the predominant source of future breast cancers, and lack of TDLU involution (higher TDLU counts, higher acini count per TDLU and the product of the two) is a breast cancer risk factor. Numerous breast cancer susceptibility single nucleotide polymorphisms (SNPs) have been identified, but whether they are associated with TDLU involution is unknown. In a pooled analysis of 872 women from two studies, we investigated 62 established breast cancer SNPs and relationships with TDLU involution. Poisson regression models with robust variance were used to calculate adjusted per‐allele relative risks (with the non‐breast cancer risk allele as the referent) and 95% confidence intervals between TDLU measures and each SNP. All statistical tests were two‐sided; P < 0.05 was considered statistically significant. Overall, 36 SNPs (58.1%) were related to higher TDLU counts although this was not statistically significant (p = 0.25). Six of the 62 SNPs (9.7%) were nominally associated with at least one TDLU measure: rs616488 (PEX14), rs11242675 (FOXQ1) and rs6001930 (MKL1) were associated with higher TDLU count (p = 0.047, 0.045 and 0.031, respectively); rs1353747 (PDE4D) and rs6472903 (8q21.11) were associated with higher acini count per TDLU (p = 0.007 and 0.027, respectively); and rs1353747 (PDE4D) and rs204247 (RANBP9) were associated with the product of TDLU and acini counts (p = 0.024 and 0.017, respectively). Our findings suggest breast cancer SNPs may not strongly influence TDLU involution. Agnostic genome‐wide association studies of TDLU involution may provide new insights on its biologic underpinnings and breast cancer susceptibility.

Turner Syndrome (TS) is a developmental disorder caused by partial or complete loss of one sex chromosome. Bicuspid aortic valve and other left‐sided congenital heart lesions (LSL), including thoracic aortic aneurysms and acute aortic dissections, are 30–50 times more frequent in TS than in the general population. In 454 TS subjects, we found that LSL are significantly associated with reduced dosage of Xp genes and increased dosage of Xq genes. We also showed that genome‐wide copy number variation is increased in TS and identify a common copy number variant (CNV) in chromosome 12p13.31 that is associated with LSL with an odds ratio of 3.7. This CNV contains three protein‐coding genes (SLC2A3, SLC2A14, and NANOGP1) and was previously implicated in congenital heart defects in the 22q11 deletion syndrome. In addition, we identified a subset of rare and recurrent CNVs that are also enriched in non‐syndromic BAV cases. These observations support our hypothesis that X chromosome and autosomal variants affecting cardiac developmental genes may interact to cause the increased prevalence of LSL in TS. © 2016 Wiley Periodicals, Inc.

AbstractA “look‐up line” (LUL) has been proposed for ice hockey, which is an orange 1 m (40′) warning line (WL) painted on the ice at the base of the boards. The LUL purports to provide an early warning to players to keep their head up prior to and as they are being checked. We determined if players looked up more on a rink with the LUL compared to a traditional Control rink. Elite offensive (O) and defensive (D) players competed 1 vs. 1, while wearing an eye tracker that recorded their quiet eye (QE) and fixation and tracking (F‐T) and an electrogoniometer that measured head angle. External cameras recorded skate duration during four skate phases: P1 preparation, P2 decision‐making, P3 cut to boards, P4 contact. The QE was the final fixation prior to contact between O and D as they skated towards and across the WL during P3 and P4. Skate phase durations (%) did not differ by rink or rink by position. More QE and F‐T occurred on the WL on the LUL rink than on the Control. The expected increase in head angle on the LUL rink did not occur during P3 or P4. Post‐hoc results also showed O and D skated further from the boards on the LUL rink, suggesting the players preferred to control the puck on white ice, rather than the orange colour of the LUL rink. More research is needed to determine if these results apply to the competitive setting.