Mutational spectrum of DNA damage and mismatch repair genes in prostate cancer.

Over the past few years, a number of studies have revealed that a significant number of men with prostate cancer had genetic defects in the DNA damage repair gene response and mismatch repair genes. Certain of these modifications, notably gene alterations known as homologous recombination (HRR) genes; , , , , and genes for DNA mismatch repair (MMR); , , , and are connected to a higher risk of prostate cancer and more severe types of the disease. The DNA damage repair (DDR) is essential for constructing and diversifying the antigen receptor genes required for T and B cell development.

Pathology-supported genetic testing for the application of breast cancer pharmacodiagnostics: family counselling, lifestyle adjustments and change of medication.

Background: Pathology-supported genetic testing (PSGT) enables transitioning of risk stratification from the study population to the individual.

Research Design And Methods: We provide an overview of the translational research performed in postmenopausal breast cancer patients at increased risk of osteoporosis due to aromatase inhibitor therapy, as the indication for referral. Both tumor histopathology and blood biochemistry levels were assessed to identify actionable disease pathways using whole exome sequencing (WES).

Pioneering Point-Of-Care Testing for Integration of Germline and Tumor Genetics in Breast Cancer Risk Management: A Vision for the Future of Translational Pharmacogenomics.

Research performed in South African (SA) breast, ovarian and prostate cancer patients resulted in the development of a rapid BRCA point-of-care (POC) assay designed as a time- and cost-effective alternative to laboratory-based technologies currently used for first-tier germline DNA testing. In this study the performance of the new assay was evaluated for use on a portable screening device (ParaDNA), with the long-term goal to enable rollout at POC as an inventive step to meet the World Health Organization's sustainable development goals for Africa. DNA samples for germline testing were obtained retrospectively from 50 patients with early-stage hormone receptor-positive breast cancer referred for genomic tumor profiling (MammaPrint).

Pioneering Informed Consent for Return of Research Results to Breast Cancer Patients Facing Barriers to Implementation of Genomic Medicine: The Kenyan BRCA1/2 Testing Experience Using Whole Exome Sequencing.

Introduction: Obtaining informed consent from study participants and disseminating the findings responsibly is a key principle required for ethically conducted clinical and genetic research. Reports from African researchers providing feedback on insights gained during the return of whole exome sequencing (WES) results to breast cancer patients treated in resource-limited settings is lacking.

Aim: The empirical process used to fill this gap in relation to variant detection using WES provided unique insights incorporated into a pathology-supported genetic testing algorithm for return of research results to Kenyan breast cancer patients.

A framework for tiered informed consent for health genomic research in Africa.

The scope for health genomics research in Africa is rapidly expanding, and standardisation of sample and data collection and processing can facilitate much larger study sizes through collaborative networks, and meta-analyses with greater statistical power to identify aetiological factors. The global health benefits that can result from data sharing and meta-analysis for health conditions are indisputable, and exploring the diversity and depth of African genomes can improve the health care provided to Africans as well as informing the identification of aetiological variants in rest-of-world populations. In the enthusiastic pursuit of such sample and data sharing and re-use, however, the preferences, permissions and wishes of the participants who provide those resources for research should be unambiguously understood, faithfully recorded and rigorously upheld.