Zhaoming Wang, PhD
Investigators at St. Jude Children’s Research Hospital are currently evaluating the monogenic and polygenic associations to subsequent breast cancer risk in survivors of childhood cancer.
Using the St. Jude Lifetime Cohort Study whole-genome sequencing data, investigators are aiming to identify the role of genetic variants and treatment exposures to subsequent risk of breast cancer in adult survivors of childhood cancer. The combined risk of 11 high- and low-penetrant variants form a polygenic risk score, according to investigators. Variants of high penetrance are BRCA1, BRCA2, CHD1, PTEN, STK11,
; variants of low penetrance are ATM, CHEK2, NBN, NF1,
In findings presented at the 2018 AACR Annual Meeting, 34 of 1131 female survivors selected from the 3000-patient analysis were found to be carriers of pathogenic or likely pathogenic variants in the 11 predisposition genes. While investigators predict that individual genetic profiling in combination with rare pathogenic or likely pathogenic variants may provide a promising breast cancer risk-stratification method for childhood cancer survivors, further data are needed to confirm.
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