POLD1

POLD1

A gene on chromosome 19q13.3 that encodes a member of the DNA polymerase delta complex involved in DNA replication and repair. POLD1 has two enzymatic activities: DNA synthesis (polymerase) and exonucleolytic activity, which degrades single-stranded DNA in the 3' to 5' direction.
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The current NeoGenomics offering includes individual gene testing of BRCA1, BRCA2, MLH1, MSH2, EPCAM, MSH6, PMS2 genes as well as a comprehensive 73 gene panel that includes the following genes: AKT1, APC, ATM, ATR, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, DKN2A, CEBPA, CHEK1, CHEK2, CTNNA1, EPCAM, ETV6, FAM175A, GALNT12, GATA2, GEN1, GREM1, HOXB13, KLLN, MEN1, MLH1, MRE11A, MSH2, MSH6, MUTYH, MYH1, MYH2, MYH3, MYH4, MYH6, MYH7, MYH8, MYH9, MYH10, MYH11, MYH13, MYH14, MYH15, NBN, NTRK1, PALB2, PIK3CA, PMS2, POLD1, POLE, PPM1D, PRSS1, PTEN, RAD50, RAD51, RAD51C, RAD51D, RET, RUNX1, SDHB, SDHC, SDHD, SMAD4, STK11, TERC, TERT, TP53, TP53BP1, VHL, WT1, XRCC2.
Recently, whole-genome sequencing of constitutional DNA from individuals diagnosed with multiple colorectal adenomas by age 60 years revealed that a germline mutation (Ser478Asn) in the POLD1 [polymerase (DNA directed), delta 1, catalytic subunit] gene, which encodes the catalytic subunit of polymerase [delta] that promotes lagging-strand synthesis during DNA replication, is linked to an inherited predisposition to both colorectal cancer and endometrial cancer (12).
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.