Uptake, utility and resource requirements of a genetic counselling telephone helpline within the BRCA-DIRECT digital pathway for mainstreamed BRCA testing in patients with breast cancer.

Background: We trialled the first digital pathway (BRCA-DIRECT) aiming to improve capacity for mainstreamed BRCA testing within UK breast oncology services. Patients received standardised digital pretest information, with saliva sampling and consent to testing completed at home. For individualised support, we offered access to a clinical genetics professional via a telephone helpline (TH).

Long-term outcomes of bilateral salpingo-oophorectomy in women with personal history of breast cancer.

Objectives: To investigate the association between bilateral salpingo-oophorectomy (BSO) and long-term health outcomes in women with a personal history of breast cancer.

Methods And Analysis: We used data on women diagnosed with invasive breast cancer between 1995 and 2019 from the National Cancer Registration Dataset (NCRD) in England. The data were linked to the Hospital Episode Statistics-Admitted Patient Care dataset to identify BSO delivery.

Tracking pollen tube and ovule development reveals rapid responses to pollination in .

Pollination and subsequent fertilization in most angiosperms are precursors of seed and fruit development. Thus, understanding the developmental processes can improve the management of plant reproductive success and food security. Indeed, the window between ovule fertilization and seed development is crucial for the accumulation of metabolites which determines ultimate seed quality and yield.

Meta-analysis of Germline Whole-exome Sequencing in 1435 Cases of Testicular Germ Cell Tumour to Evaluate Disruptive Mutations Under Dominant, Recessive, and X-linked Inheritance Models.

Background And Objective: Testicular germ cell tumour (TGCT) is the most common cancer in young men, and over half of its high estimated heritability is unexplained. Our objective was to identify rare pathogenic germline variation driving TGCT susceptibility.

Methods: This study is a case-control meta-analysis of whole-exome sequencing data from three datasets (Institute of Cancer Research, The Cancer Genome Atlas, and UK Biobank).

Rare disease gene association discovery in the 100,000 Genomes Project.

Up to 80% of rare disease patients remain undiagnosed after genomic sequencing, with many probably involving pathogenic variants in yet to be discovered disease-gene associations. To search for such associations, we developed a rare variant gene burden analytical framework for Mendelian diseases, and applied it to protein-coding variants from whole-genome sequencing of 34,851 cases and their family members recruited to the 100,000 Genomes Project. A total of 141 new associations were identified, including five for which independent disease-gene evidence was recently published.