What is it about?
In breast cancer, there are many gene variants which have no effect or whose effect we don't understand. This paper helps to categorize variants that affect gene expression.
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Why is it important?
The majority of individuals at risk for breast cancer do not have an obvious mutation that is responsible for their increased risk. This study attempts to find these mutations.
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This page is a summary of: Prevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia, Breast Cancer Research and Treatment, June 2017, Springer Science + Business Media,
DOI: 10.1007/s10549-017-4356-8.
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