Genetic mutation culprit of sisters' ovarian cancer

A genetic mutation led to ovarian cancer in three sisters diagnosed earlier this year, according to medical experts from Shanghai Cancer Center, who beckoned those with a family history of the disease to get an early genetic test.

There are seven siblings in the family, including five women. A 51-year-old woman in the family was diagnosed with ovarian cancer at Shanghai Cancer Center in July and a follow-up genetic test found a mutation of the BRCA1 gene.

According to the cancer center's Dr Wu Xiaohua, mutations in the BRCA1 and BRCA2 genes are common culprits of ovarian and breast cancer.

“More than 20 percent of ovarian cancer is caused by a BRCA1 or BRCA2 mutation, and more than 90 percent of familial genetic inheritance of breast and ovarian cancer is related to these genes," Wu said. "So testing for mutations of BRCA1 and BRCA2 is an important measure for early screening, especially among those with a family history.”

After treating the patient, Wu suggested all her female relatives receive BRCA1 and 2 screenings.

A 55-year-old sister in the family was found to have an elevated cancer biomarker in July, but after visiting several hospitals the cause was still unknown. She went to Shanghai Cancer Center in November, where she was diagnosed with ovarian cancer.

Another 63-year-old sister was found to have a lump in her pelvic cavity during a health screening in November, which doctors at the cancer center later diagnosed as ovarian cancer. 

All three sisters have had surgery and will receive follow-up chemotherapy.

The other two sisters in the family have received genetic screenings, and their nieces are considering doing so.

“The treatment for ovarian cancer is poor right now, as there are no symptoms in the early stages," Wu said. "More than 70 percent of patients aren't diagnosed with the disease until the terminal stage, so the five-year survival rate is less than 40 percent, making ovarian cancer the most deadly female cancer. Increased awareness and early screening are important for prevention and control. There are also drugs that target BRCA1 and BRCA2, so early diagnosis is critical for precise and targeted treatment.”