Breast cancer information core bic nih

A considerable number of gene tests will identify rare variants where clinical significance cannot be inferred from sequence information alone. The proportion of variants of uncertain clinical significance VUS is likely to grow with lower thresholds for testing and laboratory providers with less experience of BRCA. Most VUS will not be associated with a high risk of cancer but a misinterpreted VUS has the potential to lead to mismanagement of both the patient and their relatives. Examples from current clinical practice are presented and discussed to illustrate potential pitfalls, explore factors contributing to misinterpretation, and propose approaches to improving clarity. Results and conclusion Clinicians, patients and their relatives would all benefit from an improved level of genetic literacy. Genetic laboratories working with clinical geneticists need to agree on a clinically clear and uniform format for reporting BRCA test results to non-geneticists.
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Cancer Susceptibility (including unclassified variants)

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Breast cancer Information Core - omicX

Other genetic changes are benign — causing no problems with the gene and creating no medical problems for the individual. However, some genetic changes are not easily classified as either pathogenic or benign. These genetic changes are called unclassified variants. Unclassified variants present a dilemma for researchers, clinicians, and patients — all of whom are seeking clear, informative genetic test results. Many researchers are working to gain more information about variants to definitively classify them as benign or pathogenic.
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Cancer Susceptibility (including unclassified variants)

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