Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from Poland

There are twenty recurrent mutations in six breast-cancer-predisposing genes in Poland (BRCA1, BRCA2, CHEK2, PALB2, NBN, and RECQL). The frequencies of the twenty alleles have not been measured in a large series of early-onset breast cancer patients from Poland unselected for family history. We genotyped 2464 women with breast cancer diagnosed below age 41 years for twenty recurrent germline mutations in six genes, including BRCA1, BRCA2 CHEK2, PALB2, NBN, and RECQL. A mutation in one of the six genes was identified in 419 of the 2464 early-onset breast cancer cases (17%), including 22.4% of those cases diagnosed below age 31. The mutation frequency was 18.8% for familial breast cancer cases and 6% for non-familial cases. Among women with breast cancer below age 31, the mutation frequency was 23.6% for familial cases and 17.4% in non-familial cases. The majority of mutations (76.2%) were seen in BRCA1 and BRCA2. In Poland, a panel of twenty recurrent mutations in six genes can identify a genetic basis for a high percentage of early-onset cases and testing is recommended for all women with breast cancer at age 40 or below

Do BARD1 Mutations Confer an Elevated Risk of Prostate Cancer?

The current cancer testing gene panels tend to be comprehensive rather than site-specific. BARD1 is one of the genes commonly included in the multi-cancer testing panels. Mutations in BARD1 confer an increase in the risk for breast cancer, but it is not studied whether or not they predispose to prostate cancer. To establish if BARD1 mutations also predispose to prostate cancer, we screened BARD1 in 390 Polish patients with hereditary prostate cancer. No truncating mutations were identified by sequencing. We also genotyped 5715 men with unselected prostate cancer, and 10,252 controls for three recurrent BARD1 variants, including p.Q564X, p.R658C and p.R659=. Neither variant conferred elevated risk of prostate cancer (ORs between 0.84 and 1.15, p-values between 0.57 and 0.93) nor did they influence prostate cancer characteristics or survival. We conclude that men with a BARD1 mutation are not at elevated prostate cancer risk. It is not justified to inform men about increased prostate cancer risk in case of identification of a BARD1 mutation. However, a female relative of a man with a BARD1 mutation may benefit from this information and be tested for the mutation, because BARD1 is a breast cancer susceptibility gene

Hydrogen Intensity and Real-Time Analysis Experiment: 256-element array status and overview

International audienceThe Hydrogen Intensity and Real-time Analysis Experiment (HIRAX) is a radio interferometer array currently in development, with an initial 256-element array to be deployed at the South African Radio Astronomy Observatory Square Kilometer Array site in South Africa. Each of the 6 m, f  /  0.23 dishes will be instrumented with dual-polarization feeds operating over a frequency range of 400 to 800 MHz. Through intensity mapping of the 21 cm emission line of neutral hydrogen, HIRAX will provide a cosmological survey of the distribution of large-scale structure over the redshift range of 0.775  <  z  <  2.55 over ∼15,000 square degrees of the southern sky. The statistical power of such a survey is sufficient to produce ∼7  %   constraints on the dark energy equation of state parameter when combined with measurements from the Planck satellite. Additionally, HIRAX will provide a highly competitive platform for radio transient and HI absorber science while enabling a multitude of cross-correlation studies. We describe the science goals of the experiment, overview of the design and status of the subcomponents of the telescope system, and describe the expected performance of the initial 256-element array as well as the planned future expansion to the final, 1024-element array

Metadata record for: COVIDiSTRESS Global Survey dataset on psychological and behavioural consequences of the COVID-19 outbreak

This dataset contains key characteristics about the data described in the Data Descriptor COVIDiSTRESS Global Survey dataset on psychological and behavioural consequences of the COVID-19 outbreak. Contents: 1. human readable metadata summary table in CSV format 2. machine readable metadata file in JSON forma

Additional file 4 of Mapping age- and sex-specific HIV prevalence in adults in sub-Saharan Africa, 2000–2018

Additional file 4: Supplemental results.1. README. 2. Prevalence range across districts. 3. Prevalence range between sexes. 4. Prevalence range between ages. 5. Age-specific district ranges