Germline BRCA1/2 testing of breast and ovarian cancer patients is growing rapidly as the result affects both treatment and cancer prevention in patients and relatives. Through the DNA-BONus study we offered BRCA1/2 testing and familial risk assessment to all new patients with breast (N=893) or ovarian (N=122) cancer diagnosed between September 2012 and April 2015, irrespective of family history or age, and without prior face-to-face genetic counselling. BRCA1/2 testing was accepted by 405 (45.4%) and 83 (68.0%) of the patients with breast or ovarian cancer, respectively. A pathogenic BRCA1/2 variant was found in 7 (1.7%) of the breast cancer patients and 19 (22.3%) of the ovarian cancer patients. In retrospect, all BRCA1/2 mutation carriers appeared to fulfill current criteria for BRCA1/2 testing. Hospital Anxiety and Depression Scale (HADS) scores showed that the mean levels of anxiety and depression were comparable to those reported for breast and gynecological cancer patients in general, with a significant drop in anxiety symptoms during a 6-month follow-up period, during which the test result was forwarded to the patients. These results show that BRCA1/2 testing is well accepted in newly diagnosed breast and ovarian cancer patients. Current test criteria based on age and family history are sufficient to identify most BRCA1/2 mutation carriers among breast cancer patients. We recommend germline BRCA1/2 testing in all patients with epithelial ovarian cancer because of the high prevalence of pathogenic BRCA1/2 variants.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867439PMC
http://dx.doi.org/10.1038/ejhg.2015.196DOI Listing

Publication Analysis

Top Keywords

brca1/2 testing
28
cancer patients
28
ovarian cancer
24
breast ovarian
16
patients
12
brca1/2
11
cancer
11
newly diagnosed
8
breast
8
diagnosed breast
8

Similar Publications

Background: In the UK's National Health Service (NHS), there is specific psychosocial care offered to people with genetic cancer risk conditions but not morphological cancer risk conditions. As researchers develop new ways to diagnose morphological risk conditions, including precancers and in situ cancers, it is important to consider the psychosocial care that those diagnosed might require.

Objectives: This study compares the National Institute for Health and Care Excellence's guidelines for BRCA1/2, which are genetic risk conditions, and Barrett's oesophagus (BO), a morphological risk condition.

View Article and Find Full Text PDF

Prostate cancer (PC) represents one of the leading causes of cancer-related morbidity and mortality in men, requiring further understanding to improve diagnosis and treatment. Germline BRCA1/2 mutations, primarily identified in other hereditary cancers, confer an increased risk of developing PC; thus, testing is essential to assess cancer risk, guiding preventive strategies and screening. Recently, somatic BRCA1/2 mutations have emerged as pivotal predictive biomarkers of responsiveness to the poly ADP-ribose polymerase (PARP) inhibitors.

View Article and Find Full Text PDF

Background: Conditions associated with pathogenic (PVs) or likely pathogenic variants (LPVs) are often severe. The early detection of carrier status is ideal, as it provides options for effective case management.

Materials And Methods: The study involved 58 patients with a personal and familial history of breast cancer (BC) who underwent genetic testing at the Regional Centre for Medical Genetics Dolj over a three-year period.

View Article and Find Full Text PDF

and Beyond: Impact on Therapeutic Choices Across Cancer.

Cancers (Basel)

December 2024

Division of Medical Oncology, National Cancer Centre Singapore, 30 Hospital Blvd, Singapore 168583, Singapore.

Background: Identifying patients with gm is crucial to facilitate screening strategies, preventive measures and the usage of targeted therapeutics in their management. This review examines the evidence for the latest predictive and therapeutic approaches in -associated cancers.

Clinical Description: Data supports the use of adjuvant olaparib in patients with gm high-risk HER2-negative breast cancer.

View Article and Find Full Text PDF

Purpose: Breast cancer (BC) is the commonest cancer in South African women. A proportion are associated with a pathogenic or likely pathogenic (P/LP) variant in a BC susceptibility gene. Clinical guidelines for genetic testing are used to optimise variant detection while containing costs.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!