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Evolution of Genetic Testing in Breast Cancer Continues

Angelica Welch
Published: Thursday, Jun 21, 2018

Michael Simon, MD, MPH

Michael Simon, MD, MPH
Genetic testing in breast cancer has advanced rapidly over the last decade, offering therapeutic options and providing early screening opportunities, says Michael Simon, MD, MPH. In a presentation during the 2018 OncLive® State of the Science Summit™ on Breast Cancer, Simon, a medical oncologist at Karmanos Cancer Institute, discussed advances in genetic testing for breast cancer, highlighting the overlap between genomic risk assessment and tumor genomic profiling.

as well as for panels of other genes, said Simon. This led to next-generation sequencing (NGS), which allows researchers to process millions of genes simultaneously. NGS generates large amounts of data, which allows researchers to make genotype to phenotype correlations.

Identifiable Genes

About 50% of variants that predispose patients to breast cancer are known—15% of genes are BRCA1/2; 14% are known singlenucleotide polymorphisms (SNPs); 14% are other predicted SNPs; 4% are CHEK2, ATM, PALB2, BRIP1, RAD51C, RAD51D, and BARD1; and 3% are TP53, PTEN, LKB1, and CDH2. The remaining 50% are unexplained, says Simon.1
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