A Case Report: 19-Year-Old Hispanic Young Woman with Early-Stage Breast Cancer and a Germline Pathogenic Variant

Abstract

Background: Breast cancer (BC) is the most common cancer diagnosed in women globally and the leading cause of cancer-related deaths among younger women diagnosed between the ages of 20-49 years in the United States (US). Although the median age of BC diagnosis is 62 years overall, recent data show that early-onset BC is on the rise in young people. Black and Hispanic women are disproportionately affected by BC, often diagnosed at a younger age, and BC is the leading cause of cancer-related deaths for both groups of women. The aim of this report is to present the unique case of a young adult Hispanic woman diagnosed with early-stage BC. Younger women with BC face unique biological and psychosocial challenges compared to older post-menopausal women. Additionally, young breast cancer survivors (YBCS) are at an increased risk of BC recurrence. Therefore, there is a critical need to develop interventions that are tailored to the cultural and age-specific needs of racial and ethnic minority women to promote cancer risk-reduction and to improve health outcomes.

Method: Case Report: We present the case of a 19-year-old Hispanic female with no family history of breast cancer (BC), who was diagnosed with ductal carcinoma in situ (DCIS). Initially diagnosed in 2018, she received treatment at a comprehensive cancer center. At the time of diagnosis, she completed multigene panel testing to identify hereditary cancer risk. The testing revealed a pathogenic variant in the PTEN gene. The patient underwent a bilateral mastectomy as part of her treatment plan due to her high-risk status. Five years post-diagnosis, in 2023 she joined our NIH-funded research study focused on investigating the experiences and needs of young breast cancer survivors (YBCS) from diverse racial and ethnic backgrounds.

Conclusion:Women are being diagnosed with BC at increasingly younger ages. This case underscores the need to increase awareness about risk factors among diverse younger women and highlights the critical role of genetic testing in identifying hereditary breast and ovarian cancer (HBOC) syndrome and using that knowledge for informed decision-making. This is especially important for racial and ethnic minority women who suffer disproportionately from BC outcomes. Furthermore, it emphasizes the importance of a holistic approach to care, grounded in caring science, which prioritizes the well-being of the whole person. Nurses, in collaboration with other healthcare providers, are in a unique position to positively impact the lives of young breast cancer patients, survivors, and those at high-risk for developing the disease. By advocating for early detection, tailored age-appropriate interventions, and comprehensive support, nurses can significantly improve health outcomes and empower young women to live longer, healthier lives. Future research should investigate the complex interaction between biological, psychological, social, and environmental factors in order to reduce cancer health disparities and improve health for all.