A new study is suggesting that one in five women with ovarian cancer has inherited genetic mutations that increase their risk for the disease. These findings are derived from an integrated analysis of germline and somatic variants in ovarian cancer and they may help pave the way for identifying at-risk patients earlier in the course of the disease.

“[Ovarian cancer] is not a manageable type of cancer. The 5-year survival rate for ovarian cancer is only 43% and there are 22,000 cases a year. Late diagnosis is a contributor to high mortality and so early diagnosis is the key. This study sheds light on that,” said study investigator Li Ding, PhD, assistant director at The Genome Institute at Washington University School of Medicine, St. Louis, MO. 

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Dr. Ding and colleagues have completed the first large-scale, exome-wide analysis of the combined germline-somatic landscape in ovarian cancer.1 The researchers, who recently published their findings in the journal, Nature Communications, analyzed germline and somatic alterations in 429 patients with ovarian carcinoma and 557 controls. They identified 222 inherited genetic variants that increase the risk of ovarian cancer, some of which occurred in genes already known to be associated with a predisposition to ovarian cancer (BRCA1 and BRCA2); however, other variants were discovered in genes that have never been linked to the disease.

“We can develop new screening for these mutations and identify these women early, and we can help women develop preventive strategies,” said Dr. Ding in an interview with CancertherapyAdvisor.com. “Surgery might be an early option that can make a difference.”

In this study, the women ranged in age from 26 to 89 years, and 90% were Caucasian. The researchers noted that inherited mutations in a critical pathway of genes associated with Fanconi anemia, a rare, hereditary bone marrow disease are typically found in 20% of women with ovarian cancer. However, in this current study, 37% of women with ovarian cancer had either inherited or acquired mutations in the Fanconi anemia pathway. Dr. Ding said this is a very high number and indicates this pathway may have a significant role in development of the disease. The study also showed that women with inherited mutations in this pathway were more likely to be diagnosed with ovarian cancer at a younger age.