Double heterozygous mutation in the BRCA1 and ATM genes involved in development of primary metachronous tumours: a case report.
R Andrés ConejeroSebastian MenaoMaría ArrueboElisa QuílezMaria José CardielPublished in: Breast cancer research and treatment (2019)
The implementation of gene panels using NGS in the study of hereditary cancer involves the detection of heterozygous double mutations in genes of high and moderate penetrance for cancer, although with a low frequency.