ArticleClinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico2016
Germline BRCA testing is moving from cancer risk assessment to a predictive biomarker for targeting cancer therapeutics.
Article in Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 20 citations in OpenAlex.
- Review
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- Quantification of Discordant Variant Interpretations in a Large Family-Based Study of Li-Fraumeni Syndrome.JCO precision oncology · 2021Article
- Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.EBioMedicine · 2020Article
- Genomics Education in the Era of Personal Genomics: Academic, Professional, and Public Considerations.International journal of molecular sciences · 2020Review
- BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.Human mutation · 2019Article
- Outcomes of 92 patient-driven family studies for reclassification of variants of uncertain significance.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Physician interpretation of variants of uncertain significance.Familial cancer · 2019Article
- Evaluation of Breast Cancer Patients with Genetic Risk in a University Hospital: Before and After the Implementation of a Heredofamilial Cancer Unit.Journal of genetic counseling · 2018Article
- Observed frequency and challenges of variant reclassification in a hereditary cancer clinic.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?Frontiers in genetics · 2018Article
- Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2017Article
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10 authors at 1 institution in 1 country.
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Abstract
purposeOriginally, BRCA testing was used for risk assessment and prevention strategies for breast and ovarian cancer. Nowadays, BRCA status may influence therapeutic decision making at cancer diagnosis. Our objective was to analyze whether the medical advances have changed the burden and pattern of referral, and the pathogenic mutation detection rate.
methodsWe included 969 probands from our hereditary cancer registry who undertook a full BRCA analysis between 2006 and 2014. Chi-square tests were used to compare categorical variables.
resultsThe number of genetic tests have raised from 28 to 170, representing a sixfold increase. In 2006, we tested 1.6 relatives/proband while this proportion was four in 2014. Overall, 20 % harbored a deleterious mutation and 11 % had a variant of unknown significance (VUS). There has been a downward trend in the detection rate of VUS. Testing patients with breast cancer during neoadjuvancy has raised from 4 to 25 % (p = 0.002), while testing them during remission has decreased from 79 to 29 % (p < 0.001). The proportion of patients assessed during the first 6 months after their cancer diagnosis has increased from 3 to 34 % (p = 0.001). Risk reducing mastectomy and salpingoophorectomy have raised from 0 to 24 %, and from 36 to 65 %, respectively.
conclusionsBRCA testing has experienced a sixfold increase, the number of relatives being tested has doubled, and the test is being performed at earlier phases of the disease. It is necessary to adequate the health resources to preserve the BRCA genetic counseling quality while incorporating BRCA testing for therapeutic decision making.
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