Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10-3) and ABHD8 (P<2 × 10-3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk

1100 days in the life of the supernova 2018ibb The best pair-instability supernova candidate, to date

Stars with zero-age main sequence masses between 140 and 260 M are thought to explode as pair-instability supernovae (PISNe). During their thermonuclear runaway, PISNe can produce up to several tens of solar masses of radioactive nickel, resulting in luminous transients similar to some superluminous supernovae (SLSNe). Yet, no unambiguous PISN has been discovered so far. SN 2018ibb is a hydrogen-poor SLSN at z = 0.166 that evolves extremely slowly compared to the hundreds of known SLSNe. Between mid 2018 and early 2022, we monitored its photometric and spectroscopic evolution from the UV to the near-infrared (NIR) with 2–10 m class telescopes. SN 2018ibb radiated &gt;3 × 1051 erg during its evolution, and its bolometric light curve reached &gt;2 × 1044 erg s−1 at its peak. The long-lasting rise of &gt;93 rest-frame days implies a long diffusion time, which requires a very high total ejected mass. The PISN mechanism naturally provides both the energy source (56Ni) and the long diffusion time. Theoretical models of PISNe make clear predictions as to their photometric and spectroscopic properties. SN 2018ibb complies with most tests on the light curves, nebular spectra and host galaxy, and potentially all tests with the interpretation we propose. Both the light curve and the spectra require 25–44 M of freshly nucleosynthesised 56Ni, pointing to the explosion of a metal-poor star with a helium core mass of 120–130 M at the time of death. This interpretation is also supported by the tentative detection of [Co ii] λ 1.025 µm, which has never been observed in any other PISN candidate or SLSN before. We observe a significant excess in the blue part of the optical spectrum during the nebular phase, which is in tension with predictions of existing PISN models. However, we have compelling observational evidence for an eruptive mass-loss episode of the progenitor of SN 2018ibb shortly before the explosion, and our dataset reveals that the interaction of the SN ejecta with this oxygen-rich circumstellar material contributed to the observed emission. That may explain this specific discrepancy with PISN models. Powering by a central engine, such as a magnetar or a black hole, can be excluded with high confidence. This makes SN 2018ibb by far the best candidate for being a PISN, to date.</p

1100 days in the life of the supernova 2018ibb -- The best pair-instability supernova candidate, to date

International audienceAbridged - Stars with ZAMS masses between 140 and $260 M_\odot$ are thought to explode as pair-instability supernovae (PISNe). During their thermonuclear runaway, PISNe can produce up to several tens of solar masses of radioactive nickel, resulting in luminous transients similar to some superluminous supernovae (SLSNe). Yet, no unambiguous PISN has been discovered so far. SN2018ibb is a H-poor SLSN at $z=0.166$ that evolves extremely slowly compared to the hundreds of known SLSNe. Between mid 2018 and early 2022, we monitored its photometric and spectroscopic evolution from the UV to the NIR with 2-10m class telescopes. SN2018ibb radiated $>3\times10^{51} \rm erg$ during its evolution, and its bolometric light curve reached $>2\times10^{44} \rm erg\,s^{-1}$ at peak. The long-lasting rise of $>93$ rest-frame days implies a long diffusion time, which requires a very high total ejected mass. The PISN mechanism naturally provides both the energy source ($^{56}$Ni) and the long diffusion time. Theoretical models of PISNe make clear predictions for their photometric and spectroscopic properties. SN2018ibb complies with most tests on the light curves, nebular spectra and host galaxy, potentially all tests with the interpretation we propose. Both the light curve and the spectra require 25-44 $M_\odot$ of freshly nucleosynthesised $^{56}$Ni, pointing to the explosion of a metal-poor star with a He-core mass of 120-130 $M_\odot$ at the time of death. This interpretation is also supported by the tentative detection of [Co II]$\lambda$1.025$\mu$m, which has never been observed in any other PISN candidate or SLSN before. Powering by a central engine, such as a magnetar or a black hole, can be excluded with high confidence. This makes SN2018ibb by far the best candidate for being a PISN, to date

JWST detection of heavy neutron capture elements in a compact object merger

International audienceThe mergers of binary compact objects such as neutron stars and black holes are of central interest to several areas of astrophysics, including as the progenitors of gamma-ray bursts (GRBs), sources of high-frequency gravitational waves and likely production sites for heavy element nucleosynthesis via rapid neutron capture (the r-process). These heavy elements include some of great geophysical, biological and cultural importance, such as thorium, iodine and gold. Here we present observations of the exceptionally bright gamma-ray burst GRB 230307A. We show that GRB 230307A belongs to the class of long-duration gamma-ray bursts associated with compact object mergers, and contains a kilonova similar to AT2017gfo, associated with the gravitational-wave merger GW170817. We obtained James Webb Space Telescope mid-infrared (mid-IR) imaging and spectroscopy 29 and 61 days after the burst. The spectroscopy shows an emission line at 2.15 microns which we interpret as tellurium (atomic mass A=130), and a very red source, emitting most of its light in the mid-IR due to the production of lanthanides. These observations demonstrate that nucleosynthesis in GRBs can create r-process elements across a broad atomic mass range and play a central role in heavy element nucleosynthesis across the Universe