Doctors have known since the late 1800s that a strong link exists between breast and ovarian cancers. But it’s only recently that they’ve been able to do anything about it. The identification of the BRCA genes in 1994 helped researchers pinpoint the relationship between the two cancers and there has been a growing movement since then to identify women at risk and provide genetic counseling that can help save their lives.

Dr. Noah Kauff, Memorial Sloan-Kettering Cancer Center

A few statistics first: Some 200,000 women will be diagnosed with breast cancer this year. Of those, 7-10% (15,000-20,000 cases) will have an inherited predisposition. Among women with that predisposition, over half (7,000-10,000 cases) will be the result of detectable mutations in BRCA1 or BRCA2. Those women with a BRCA mutation will also have a 10-60% risk of developing ovarian cancer in their lifetime (35-60% risk with a BRCA1 mutation; 10-27% risk with BRCA2). That’s compared with a 1.5% risk of developing ovarian cancer for the general population.

Inheriting a mutation doesn’t necessarily lead to cancer, but it substantially increases the risk. That’s why many doctors believe that early detection of the BRCA predisposition is vitally important to preventing illnesses and deaths from both diseases.

One such early detection advocate is Dr. Noah Kauff, a gynecologist and clinical geneticist at Memorial Sloan-Kettering Cancer Center and a leading expert on hereditary ovarian cancer and the BRCA genes. “Genetic counseling and testing is an incredibly important tool for identifying women at risk of BRCA-related breast or ovarian cancer,” he says. “Armed with information, those women can make much more informed decisions about their healthcare, often long before they are diagnosed with cancer.”

Researchers have done a good job of narrowing down the pool of women who fall into that high-risk category, Dr. Kauff notes. The following guidelines are important for any woman to note, and are particularly vital for women who have breast cancer.

Possible Signs of Inherited Predisposition to Breast and Ovarian Cancer:

1. Having two or more close relatives in the family diagnosed with breast cancer prior to age 50
2. Having one close relative diagnosed with breast cancer prior to age 50 and a second relative diagnosed with ovarian cancer at any age
3. Being diagnosed with breast cancer yourself before age 50
4. Being of Eastern European Jewish extraction and having a close relative with either breast cancer prior to age 50 or ovarian cancer at any age. (Approximately 90% of Jewish people in the United States are of Eastern European extraction)*

“The hallmarks of inherited cancer syndromes are that we see cancers at earlier ages than expected and more frequently than expected,” says Dr. Kauff. “It makes sense then, that anyone who meets these criteria is a good candidate for genetic counseling and perhaps genetic testing,” he argues.

If the counseling and screening determine that a woman is indeed at increased risk, what are her options? For breast cancer, they include intensive screening – annual mammograms and annual breast MRI beginning at an early age (25-30, ideally); medications such as tamoxifen and raloxifene to reduce the risk of breast cancer; and risk-reducing surgery, both prophylactic mastectomy and prophylactic removal of the ovaries, which can reduce the risk of breast cancer in women with BRCA mutations by 40-70 percent.

For ovarian cancer, there are fewer options. “Unfortunately, there is no proven screening method for ovarian cancer and it is difficult to stop once diagnosed,” Dr. Kauff confirms. “However, there are some treatments a woman at high risk can consider.” For instance, oral contraceptives are known to reduce the risk of ovarian cancer: the drawback is that they might increase the risk of breast cancer in women with BRCA1 mutations. Another option is to remove the ovaries and fallopian tubes prophylactically, ideally before menopause so that the surgery also reduces breast cancer risk. Prophylactic removal of the ovaries (known as an “oophorectomy”) reduces the risk of ovarian and related cancers by 85-90% - a very significant drop.

Interestingly, notes Dr. Kauff, there have been several studies indicating that BRCA-associated ovarian cancer is associated with substantially improved survival compared to sporadic ovarian cancer. That’s because BRCA-related ovarian cancer appears to be much more sensitive to chemotherapy. “It is the rule, not the exception, to be a long-term survivor if you are dealing with a BRCA-associated ovarian cancer.” That’s another reason these patients should be concerned about their increased risk for breast cancer – “if they’re an ovarian cancer survivor, we want to make sure that breast cancer doesn’t enter into the picture,” as Dr. Kauff puts it.

“What we have learned in the last 10 years is that we can alter the natural history of these inherited predispositions,” Dr. Kauff concludes. “With appropriate risk reduction strategies, we actually think that in many cases, individuals at risk will not develop a BRCA-associated cancer in their lifetime.”

* The Eastern European Jewish factor is the result of that population having been historically isolated. Because of that isolation, three specific BRCA1 and BRCA2 mutations that occurred some 500-1,500 years ago have been passed down in disproportionate numbers to this group of people today.