Next Generation Sequencing in a Young Female with Invasive Ductal Carcinoma of Breast Associated with DCIS: A Medical Case Study and Recommendations for Practice

Pragyan R1* and Parida S2

1Department of Biotechnology, College of Basic Science and Humanities, India
2Department of Surgical Oncology, Kalinga Institute Medical Sciences Cancer Centre, India

^*Correspondance to: Pragyan Roy 

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Abstract:

Patient: Female, 43. Final diagnosis: Invasive Ductal Carcinoma with ductal carcinoma in-situ. Symptoms: A hard palpable mass at the upper outer quadrant of right breast not associated with pain or discharge. Medication: Adjuvant chemotherapy, adjuvant hormone therapy. Procedure: Breast Conservation Surgery (BCS) with Oncoplasty, Adjuvant Radiotherapy. Background: Incidence of Breast Cancer (BC) in young Indian women is on the rise in both urban and rural India. Causative factors for the upsurge of hormone positive as well as hormone negative cancers in young premenopausal women are yet to be identified. If National Comprehensive Cancer Centre Criteria (NCCN) guidelines are followed for genetic testing 50% patients who might be harboring pathogenic mutation of clinical significance might be missed. So, multigene testing should be regularly done in high-risk women to identify other genetic mutations that might contribute to the genesis, progression of breast cancer apart from BRCA1/2. Case Report: This is a case report of a young woman (43 years) suffering from carcinoma of her right breast who underwent multiple gene panel testing as a part of her disease workup revealing interesting findings that might have implications for future recommendations. A large right breast lump affecting upper and upper outer quadrant of right breast was found to have a small focus of invasive carcinoma associated with segmental DCIS. She underwent BCS with oncoplastic reconstruction, Sentinel Lymph node biopsy. She received adjuvant chemotherapy followed by adjuvant radiotherapy. She is now on tamoxifen and under follow up for more than a year. Conclusion: Rising incidence of BC in young women in India needs further research to identify probable genetic factors that might be responsible for the disease. The multigene panel test findings in our case have shown that many other mutations might be causatively associated with breast cancer in young women apart from the common BRCA genes. Multigene testing by NGS has the potential to provide significant insight into hitherto unknown genetic factors and thus identify targets for chemoprophylaxis, chemotherapy and cancer management.

Keywords:

Breast cancer; Young Indian women; Invasive ductal carcinoma; Next generation sequencing

Cite the Article:

Pragyan R, Parida S. Next Generation Sequencing in a Young Female with Invasive Ductal Carcinoma of Breast Associated with DCIS: A Medical Case Study and Recommendations for Practice. Ann Clin Case Rep. 2024; 9: 2580.