Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years.

Christos PetridisIteeka AroraVandna ShahAnargyros MegaliosCharlotte MossAnca MeraAngela CliffordCheryl GillettSarah E PinderIan TomlinsonRebecca RoylanceMichael A SimpsonElinor J Sawyer

Published in: Breast cancer research : BCR (2019)

This study has shown that breast tumourigenesis in women with pathogenic variants in BRCA2, CHEK2, PALB2, BRCA1 and TP53 can involve a DCIS precursor stage and that the focus of genetic testing in DCIS should be on women under the age of 40 with ER-positive DCIS.

Keyphrases

breast cancer risk
polycystic ovary syndrome
copy number
pregnancy outcomes
type diabetes
gene expression
adipose tissue
dna methylation
genome wide