Vet Radiol Ultrasound
January 2025
Objective: To study the fertility outcomes of women who tried to conceive after breast cancer (BC) treatment and fertility preservation.
Design: Retrospective observational, bicentric cohort study.
Setting: University hospital.
Constitutional heterozygous pathogenic variants in the exonuclease domain of POLE and POLD1, which affect the proofreading activity of the corresponding polymerases, cause a cancer predisposition syndrome characterized by increased risk of gastrointestinal polyposis, colorectal cancer, endometrial cancer and other tumor types. The generally accepted explanation for the connection between the disruption of the proofreading activity of polymerases epsilon and delta and cancer development is through an increase in the somatic mutation rate. Here we studied an extended family with multiple members heterozygous for the pathogenic POLD1 variant c.
View Article and Find Full Text PDF