Information needs of women with BRCA mutations regarding cancer risk management and decision-making.

Purpose: Providing women who have tested positive for a pathogenic variant in BRCA1 or BRCA 2 relevant information can help them to make informed decisions about managing their cancer risk. However, there is a lack of targeted informational support for BRCA positive women specific to the Irish context. The objective of this study is to identify the information needs of women diagnosed with a pathogenic variant in BRCA1 or BRCA 2 regarding cancer risk management and decision-making.

Digenic Inheritance of Mutations in Homologous Recombination Genes in Cancer Patients.

Background/objectives: , , , and are known cancer predisposition genes (CPGs), but tumor risk in patients with simultaneous pathogenic variants (PVs) in CPGs remains largely unknown. In this study, we describe six patients from five families with multiple cancers who coinherited a combination of PVs in these genes.

Methods: PVs were identified using NGS DNA sequencing and were confirmed by Sanger.

Decision aids for female BRCA mutation carriers: a scoping review.

Objectives: Women who inherit a pathogenic or mutation are at substantially higher risk of developing breast and ovarian cancer than average. Several cancer risk management strategies exist to address this increased risk. Decisions about which strategies to choose are complex, personal and multifactorial for these women.

Impact of Digital Interventions on the Treatment Burden of Patients With Chronic Conditions: Protocol for a Systematic Review.

Background: There is great potential for delivering cost-effective, quality health care for patients with chronic conditions through digital interventions. Managing chronic conditions often includes a substantial workload required for adhering to the treatment regimen and negative consequences on the patient's function and well-being. This treatment burden affects adherence to treatment and disease outcomes.