Cervical cancer with BRCA1 gene mutations: case reports and literature review

Mutations in breast cancer susceptibility genes (BRCA1 and BRCA2) are well-established risk factors for breast, ovarian, prostate, and pancreatic cancers. However, their occurrence in cervical cancer is rare, with a reported prevalence of less than 5%. To date, only a limited number of cervical cancer cases harboring BRCA mutations have been reported.

We conducted a retrospective analysis of two cases of cervical cancer with germline BRCA1 mutations. Case 1: A 39-year-old woman presented with poorly differentiated squamous cell carcinoma of the cervix, classified as International Federation of Gynecology and Obstetrics (FIGO) stage IIA1. After radical hysterectomy, she received adjuvant chemoradiotherapy. Owing to a family history of cancer, genetic testing was performed, revealing a pathogenic germline BRCA1 mutation. One year later, she underwent prophylactic bilateral salpingo-oophorectomy. After 44 months of rigorous follow-up, no evidence of disease recurrence was observed. Case 2: A 26-year-old woman was diagnosed with poorly differentiated squamous cell carcinoma of the cervix, FIGO 2018 stage IVB. She received neoadjuvant chemotherapy followed by concurrent chemoradiotherapy and four additional cycles of combination chemotherapy. Whole-exome sequencing identified a germline BRCA1 mutation. Two years after the completion of initial treatment, imaging revealed metastatic involvement of lymph nodes in the left axilla. She subsequently received six cycles of palliative chemotherapy. At 50 months post-diagnosis, the patient remains alive under close clinical surveillance.

In patients with cervical cancer, BRCA testing holds important clinical value, particularly for the management of those with a significant family history of malignancy or confirmed hereditary predisposition. Appropriate genetic counseling plays an essential role in guiding preventive strategies, facilitating early diagnosis, and supporting informed decision-making regarding potential prophylactic interventions.