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Monday, 22/9/2025 | 12:02 GMT+7

Breast cancer due to gene mutation

Tham, 49, presented with multiple lesions in both breasts, and doctors diagnosed early-stage breast cancer due to a BRCA2 gene mutation.

Tests to determine the stage of the cancer revealed that the tumor in Tham's left breast was localized, with no spread to the axillary lymph nodes or distant metastasis. Doctor Do Anh Tuan, from the Department of Breast and Head and Neck Surgery at Tam Anh General Hospital in Ho Chi Minh City, identified ductal carcinoma in situ – an early form of breast cancer. A biopsy of a lump in her right breast showed it to be benign.

Tham's sister was diagnosed with ovarian cancer in May and underwent surgery without genetic testing. Based on her sister's medical history, doctors advised Tham to undergo genetic testing, which revealed the BRCA2 gene mutation. People with this mutation have an increased risk of breast cancer, ovarian cancer, prostate cancer (in men), pancreatic cancer, and some other cancers.

Doctor Tuan explained that the parents, siblings, and children of someone with this inherited mutation have a 50% chance of carrying the same mutation. Since Tham's sister had not been tested, it was unclear whether she carried the gene mutation. Consequently, the doctor recommended genetic testing for Tham's sister and other relatives. As her sister had already had her ovaries removed, her risk of breast cancer may be reduced by 40-70%.

Doctors performed a mastectomy on Tham's left breast, simultaneously reconstructing it using a latissimus dorsi flap, and biopsied the sentinel lymph node in her left armpit. They also removed the lump from her right breast. Two days after the surgery, Tham recovered well, with dry incisions, and was discharged, scheduled for a follow-up appointment a week later to check the incisions. Post-operative pathology results confirmed that the cancer in her left breast was localized, the left axillary lymph nodes were negative, and the lump in her right breast was benign.

According to Doctor Tuan, patients with the BRCA2 gene mutation should undergo regular follow-up examinations and preventive treatment for contralateral breast cancer and ovarian cancer.

Doctor Giang (right) and Doctor Tuan (center) with the surgical team operating on the patient. Photo: Hospital provided

In situ breast cancer often presents no typical symptoms and is easily missed without regular screening. Patients may undergo surgery, radiation therapy, or hormonal therapy depending on their individual case. Early detection and treatment lead to a high 5-year survival rate.

Doctor Tuan noted that about 5-10% of breast cancers are linked to inherited mutations like BRCA1/2. In Vietnam, breast cancer is the most common cancer among women, with over 24,000 new cases reported in 2022 according to Globocan statistics.

Doctors recommend that women aged 40 and above undergo annual breast cancer screening with mammograms, ultrasounds, and monthly self-exams to detect any abnormalities promptly. High-risk individuals should begin regular screening at age 25-30, combining ultrasounds, MRIs, or mammograms for early detection and timely treatment. Maintaining a healthy lifestyle, exercising regularly, eating plenty of vegetables, and limiting alcohol consumption are also recommended for overall health.

Minh Tam

*The patient's name has been changed.

Readers can submit questions about cancer here for doctors to answer.
By VnExpress: https://vnexpress.net/ung-thu-vu-do-dot-bien-gene-4941967.html
Tags: breast cancer gene mutation cancer Ho Chi Minh City

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