Article
POLD1 and POLE Gene Mutations in Jewish Cohorts of Early-Onset Colorectal Cancer and of Multiple Colorectal Adenomas.
Diseases of the colon and rectum - 1 Sept 2018
Rosner Guy, Gluck Nathan, Carmi Shai, Bercovich Dani, Fliss-Issakov Naomi, Ben-Yehoyada Merav, Aharon-Caspi Sivan, Kellerman Efrat, Strul Hana, Shibolet Oren, Kariv Revital
Abstract excerpt
BACKGROUND: Germline mutations in the DNA polymerase genes POLD1 and POLE confer high risk for multiple colorectal adenomas and colorectal cancer. However, prevalence and the clinical phenotype of mutation carriers are still not fully characterized. OBJECTIVE: The purpose of this study was to assess the prevalence of germline mutations and to describe the genotype-phenotype correlation in POLD1 and POLE genes in...
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