2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Germline Variants in Genes Associated with Parkinsonism in Cancer Patients: a Case Report

Germline Variants in Genes Associated with Parkinsonism in Cancer Patients: a Case Report

Pdf Summary

This study reports on two cases of gynecological and breast cancer in patients with pathogenic variants in the PRKN gene, which is associated with Parkinson's disease (PD). The first case is a 27-year-old woman with dysgerminoma and a homozygous c.155delA(p.Asn52Metfs*29) variant in PRKN, while the second case is a 65-year-old woman with breast cancer and a heterozygous c.1205G>A (p.Arg402His) variant in PRKN. The PRKN gene is known to function as a tumor suppressor and is involved in various cancer types. The loss-of-function variants found in these patients may alter cell survival in response to stress and contribute to cancer development. However, other alternative pathways for mitophagy induction have also been identified, complicating the relationship between PRKN and cancer. The findings highlight the variable expression of PRKN mutations and their potential role as genetic susceptibility factors for cancer. Further research is needed to understand the effects of these specific mutations and other genetic variants in PD-related genes.

Asset Subtitle

Presenting Author - Silvia Maradei, MD MS; Co-Author - SHIRLEY NATALI IZA, MD; Co-Author - DIEGO SALDANA, MD ESP; Co-Author - ANA ZARANTE, MD ESP;

Meta Tag

Cancer Syndromes

Oncogenesis

Risk Assessment

Variant Detection

Co-Author SHIRLEY NATALI IZA, MD

Co-Author DIEGO SALDANA, MD ESP

Co-Author ANA ZARANTE, MD ESP

Presenting Author Silvia Maradei, MD MS

Keywords

gynecological cancer

breast cancer

PRKN gene

Parkinson's disease

pathogenic variants

dysgerminoma

tumor suppressor

cell survival

mitophagy induction

genetic susceptibility