Work

Breast Cancer with a Newly Diagnosed Variant in the PTEN Gene: A Case Report

Year: 2025

Type: article

Abstract: INTRODUCTION: ) gene, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, adult Lhermitte-Duclos disease, and autism spectrum disorders associated with macrocephaly. PHTS is characterized by hamartomas in multiple organs and is associated with an increased risk of developing malignant tumors including, breast, thyroid, endometrial, colorectal, and kidney tumors. Breast cancer is the most common malignancy associated with PHTS. CASE PRESENTATION: gene. Although there is no clear evidence supporting risk-reducing surgery for PHTS, a right nipple-sparing mastectomy, sentinel lymph node biopsy, and tissue expander reconstruction were performed. CONCLUSIONS: genetic variants and breast cancer subtypes.

Source: Surgical Case Reports

DOI: 10.70352/scrj.cr.24-0082

Authors: Yuka Maeda, Tatsuhiko Ikeda, Ayana Sato, Akiko Matsumoto, Hiromitsu Jinno

Institution: Teikyo University

Language: English

Topic: BRCA gene mutations in cancer

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,535