Exploring germline and somatic mutagenesis in the extended family with germline pathogenic variant in POLD1

This study aimed to estimate the influence of POLD1 L474P on somatic and germline mutagenesis.
We studied the mutation rate and spectra in germline and soma in an extended family harboring the
POLD1 c.1421T>C p.(Leu474Pro) pathogenic variant. The study includes WGS data for DNA
extracted from blood, fibroblasts or buccal swabs from the 16 family members, from DNA obtained
single-cell derived colonies obtained from immortalized fibroblasts for 8 of 16 family members and from the same single-cell derived immortalized fibroblasts after approximately 40 passages for 6 out of 8 family members. Additionaly, study includes WXS sequencing for 1 tumor FFPE sample and adjacent normal tissue from the individual from one family member.EGA study EGAS00001006434