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Annotating genomic sequence alterations is sometimes a difficult decision, particularly in missense variants with uncertain pathogenic significance and also in those presumed as germline pathogenic variants. We here suggest that mutation spectrum may also be useful for judging them. From the public databases, 982 BRCA1/1861 BRCA2 germline missense variants and 294 BRCA1/420 BRCA2 somatic missense variants were obtained. We then compared their mutation spectra, i.e., the frequencies of two transition- and four transversion-type mutations, in each category. Intriguingly, in BRCA1 variants, A:T to C:G transversion, which was relatively frequent in the germline, was extremely rare in somatic, particularly breast cancer, cells (p = .03). Conversely, A:T to T:A transversion was most infrequent in the germline, but not rare in somatic cells. Thus, BRCA1 variants with A:T to T:A transversion may be suspected as somatic, and those with A:T to C:G as being in the germline. These tendencies of mutation spectrum may also suggest the biological and chemical origins of the base alterations. On the other hand, unfortunately, variants of uncertain significance (VUS) were not distinguishable by mutation spectrum. Our findings warrant further and more detailed studies., (© 2024 The Author(s). Environmental and Molecular Mutagenesis published by Wiley Periodicals LLC on behalf of Environmental Mutagenesis and Genomics Society.)

The reliability and small size of solid state scanners makes them ideal for LIDAR. We fabricated and demonstrated the successful operation of an optical scanner using silicon photonics integrated circuit technology. The scanner comprises a ring resonator multiplexer and a number of grating arrays, and employs a beam switching method, which means that the scanner is movement-free. The multiplexer determines the optical path and light is emitted from the selected grating. The scanning angle obtained was 6 degrees. LIDAR sensors can be used in automotive applications for automated cruising.

Light-induced self-written (LISW) optical waveguides were fabricated for the first time, to the best of our knowledge, using a photopolymerizable resin system formed by 1550 nm pulse laser light. A two-photon absorption (TPA) chromophore with a TPA cross section of several hundred Goeppert-Mayer (GM) at 1550 nm was used. Furthermore, the optical interconnection between a single-mode fiber and a fiber Bragg grating was demonstrated by the present technique, using one-way irradiation of 1550 nm laser light through the single-mode fiber. The LISW waveguide formation using 1550 nm laser light offers a new and promising alternative route for optical interconnection in silicon photonics technology.

We report a polymer waveguide module that provides bidirectional communication over a single plastic optical fiber (POF) with dual visible wavelength LEDs. The module is constructed using light-induced self-written waveguides, which enables a three-dimensional optical circuit for visible wavelength division multiplexing to be fabricated by an extremely simple process. We demonstrated 250 Mbits/s communication using a pair of these modules that each contained one green (lambda = 495 nm) and one red (lambda = 650 nm) LEDs by measuring the bit error rates. The results indicate that the system could transmit over more than 20 m of POF in full duplex mode.