Dissecting the heritable risk of breast cancer: From statistical methods to susceptibility genes

Viola Fanfani, Martina Zatopkova, Adrian Harris, Francesco Pezzella, Giovanni Stracquadanio

Research output: Contribution to journalArticlepeer-review

Abstract

Decades of research have shown that rare highly penetrant mutations can promote tumorigenesis, but it is still unclear whether variants observed at high-frequency in the broader population could modulate the risk of developing cancer. Genome- wide Association Studies (GWAS) have generated a wealth of data linking single nucleotide polymorphisms (SNPs) to increased cancer risk, but the effect of these mutations are usually subtle, leaving most of cancer heritability unexplained. Understanding the role of high-frequency mutations in cancer can provide new intervention points for early diagnostics, patient stratification and treatment in malignancies with high prevalence, such as breast cancer.
Here we review state-of-the-art methods to study cancer heritability using GWAS data and provide an updated map of breast cancer susceptibility loci at the SNP and gene level.
Original languageEnglish
Journalseminars in cancer biology
Early online date20 Jun 2020
DOIs
Publication statusE-pub ahead of print - 20 Jun 2020

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