Is ovarian cancer inherited?

The majority of ovarian cancers are caused by unknown factors. About 5% of ovarian cancers are caused by inherited factors (e.g., abnormalities in genes known as mutations which may be inherited from either parent). In this situation, a woman may be born with (inherits) a mutation in a gene that predisposes her to the development of ovarian cancer. At least two patterns of hereditary ovarian cancer have been described. In the first, a patient with ovarian cancer may have other family members with breast cancer, ovarian cancer, or even both tumors in the same individual. This is known as the breast/ovarian cancer syndrome. In the second, an ovarian cancer patient may have family members with a variety of other tumors (see below), including colorectal cancer and endometrial (uterine) cancer. This is sometimes referred to as the Lynch syndrome II.


What genes are involved?

Most hereditary ovarian cancers occur in families with the breast/ovarian cancer syndrome and are associated with inherited mutations in one of two genes known as BRCA1 and BRCA2. BRCA1 mutations account for the majority of cases of inherited ovarian cancer (50%-70%), while BRCA2 mutations are less common (15-25%). When a parent has a mutation in a gene such as BRCA1 or BRCA2, there is a 50% chance of passing on the mutation to each of his or her children.

Families with the Lynch syndrome II usually include several individuals who develop bowel (colon or rectal) cancer, often before age 50. These bowel tumors are usually not associated with polyps and are therefore sometimes called "hereditary non-polyposis colon cancer" (HNPCC). Other tumors which may affect members of these families include endometrial, ovarian, stomach, small bowel, bile duct, and urinary tract cancers. Lynch syndrome II is caused by a mutation in one of several different genes known as mismatch repair genes. The two genes responsible for the majority of mutations found are known as MSH2 and MLH1. Less commonly mutations can be found in the PMS1, PMS2 and MSH6 genes. In at least one third of families with the Lynch syndrome II, no identifiable mutation is found.


How do I suspect that breast or ovarian cancer in my family might be inherited?

Some situations increase the likelihood (but do not necessarily mean) that an inherited form of cancer may exist in a family

  • Breast and/or ovarian cancer occurring in at least three close relatives
  • Breast and/or ovarian cancer occurring at an early age (before menopause)
  • Breast and ovarian cancer occurring in the same family member
  • Men in the family with breast cancer (suggests BRCA2 mutation)

Family members with bowel cancer at an early age (before 50), endometrial cancer, or other Lynch syndrome associated cancers (see above).


What is genetic testing?

Scientists are now able to look for mutations in genes with a blood test. This genetic test can sometimes determine if an individual has an inherited form of ovarian cancer. If a mutation is found, other family members can learn if they have inherited the same mutation and therefore have an increased risk for cancer. It is preferable to begin the process of genetic testing in a patient already affected with cancer, since a specific mutation found in that individual would make the search for the same mutation in other family members much easier. Several types of mutations in BRCA1 and BRCA2 are more common in certain ethnic groups. Your physician will be able to provide you with more details as appropriate.


What are my options if I have a BRCA1 or BRCA2 mutation?

A woman with a mutation in BRCA1 or BRCA2 has an increased chance of developing breast cancer and/or ovarian cancer. There are several strategies one can use to try to prevent cancer from occurring, or to increase the chance of detecting it early. While no method for prevention or early detection has yet been proven to be completely effective, options include

Increased surveillance (cancer screening)

Breast cancer may be detected with surveillance measures such as breast self-exams, mammograms, and breast exams performed by your doctor. Likewise, pelvic ultrasounds and a blood test called CA-125 are sometimes used in an attempt to detect ovarian cancer at an early stage. Whether these surveillance measures can result in early cancer detection and lead to improved survival in patients with BRCA1 or BRCA2 mutations is unknown.

Prophylactic (preventive) surgery

This approach involves removing the breasts and/or ovaries before cancer can develop. It is important to remember, however, that it is not possible to remove all of the breast tissue, and a small number of women can still develop breast cancer even after the surgery. Likewise, a type of ovarian cancer starting inside the abdomen can occasionally develop, even in patients whose ovaries are prophylactically removed. The impact of these procedures on survival remains uncertain, although consideration of prophylactic surgery in selected women is reasonable. The pros and cons of this approach need to be carefully discussed between you and your physician.


A recently published national trial (the Breast Cancer Prevention Trial) demonstrated that women who took a medication called tamoxifen for five years reduced their risk of developing breast cancer by 50% compared to women who took a placebo. The second national breast cancer prevention trial, known as the STAR study, will compare tamoxifen to a newer tamoxifen-like drug called raloxifene, in order to determine which drug is superior in preventing breast cancer. It is not yet known whether these medications reduce the risk of developing breast cancer in BRCA1 and BRCA2 mutation carriers. Other research has shown that women who have used birth control pills have a lower incidence of developing ovarian cancer (a recent study suggests that this may also be the case for women who carry a BRCA1 mutation).


What are my options if I have a Lynch Syndrome associated mutation?

Cancer Screening. Individuals with a Lynch Syndrome mutation are at especially high risk for developing colorectal cancer, although the risk for other tumors such as those involving the endometrium (uterus), ovaries, and stomach is increased as well. A procedure known as colonoscopy should be frequently performed to detect colon cancer and/or to remove precancerous lesions in patients with the Lynch syndrome. Screening tests for cancers at other sites are of uncertain value and are beyond the scope of this section. Your physician will be able to provide you with more details as appropriate.


What is Urogynecology?

Urogynecology, a subspecialty within Obstetrics and Gynecology, focuses on female pelvic floor disorders such as pelvic organ prolapse (dropping of the uterus and/or vagina) and urinary or fecal incontinence. Urogynecologists diagnose pelvic floor disorders and offer non-surgical and surgical treatments. To reflect the depth of what we do at Beth Israel Deaconess -Needham, our program is also known as Female Pelvic Medicine and Reconstructive Surgery.


What is the female pelvic floor?

The female pelvic floor is the group of muscles, ligaments and connective tissues that keep a woman's internal organs (bladder, uterus, vagina and lower bowel) in place. By acting like a sling or a hammock to support the organs, the pelvic floor has a key role in making the organs function properly.


What is happening inside of me to cause a pelvic floor disorder?

A pelvic floor disorder suggests there is a weakness or tear somewhere within the network of muscles, ligaments and connective tissues supporting your internal organs. This weakening or tear in the support system may cause an organ to shift out of place and improperly function.


What are symptoms of pelvic floor disorders?

There are several symptoms of pelvic floor disorders, and a woman may experience more than one at the same time

  • Problems controlling bladder and bowels that include urine, bowel gas or stool leakage
  • Difficulty emptying bladder or having a bowel movement
  • Problems controlling urinary frequency
  • Recurrent bladder or urinary tract infections
  • Feelings of heaviness, sagging, bulging or even dropping in the pelvic area
  • Feel or see tissue coming out of the vagina

Whatever your symptoms are, we encourage you to see a specialist who is trained to diagnose and treat these types of conditions. There are good non-surgical and surgical treatment options available to improve your quality of life.


How do I know if my symptoms are severe enough to see a specialist?

If your symptoms affect your daily activities, you should speak with your primary care provider about seeing a specialist. There are good treatment options available.


What happens if I ignore the problem?

We understand these problems can be embarrassing, but neglecting them can make the symptoms worse. These are not life-threatening problems, but--if not properly treated--they can have a negative effect on your quality of life. In some cases, although usual, ignoring the problem can lead to serious health complications.


How did this happen to me?

There are many contributing factors to pelvic floor disorders, and almost all of them are beyond your control. Although more common in women who have given birth vaginally, pelvic floor disorders can also affect women who have never been pregnant. And, they affect women of all ages. Other contributing factors include chronic constipation, chronic cough, repetitive heavy lifting, pelvic tumors, excessive weight, weakening of the connective tissues over time, as well as genetics.


How common are pelvic floor disorders?

Pelvic floor disorders are very common. It is estimated that one-third of all U.S. women will be affected by one type of pelvic floor disorder in her lifetime.


Are pelvic floor disorders just a normal part of aging?

Although the frequency of pelvic floor disorders does increase with age, it should not be considered a normal part of aging. No woman should have to "just live with" these symptoms. By visiting a specialist trained to diagnose and treat pelvic floor disorders, you can learn about the numerous non-surgical and surgical treatment options available.


What are the most common kinds of pelvic floor disorders?

Urinary incontinence and pelvic organ prolapse are the most common kind of pelvic floor disorders. The good news is that there are good treatment options available.


How can I prevent myself from developing pelvic floor disorder?

While some cases of pelvic organ disorder are unavoidable, the following suggestions may help decrease your chances of developing a condition.

Strengthen your pelvic floor by doing regular Kegel exercises

Stay at a healthy weight through diet and exercise

Resolve constipation issues because excessive straining can weaken the pelvic muscles. Speak with your physician about constipation, making dietary changes and increasing the amount of fiber in your diet

Quit smoking. Smoking may cause a chronic cough that weakens your pelvic muscles. Smoking also weakens the tissues that support your pelvic organs. If you smoke, ask your physician about strategies to quit

Limit the amount of heavy lifting you do. Speak with your specialist about lifting techniques that won't put as much stress on your pelvic muscles


What kind of medical training does a Urogynecologist have and how do I find one?

After graduating from medical school, Urogynecologists complete their residency in Obstetrics and Gynecology. Next, they complete a fellowship in Female Pelvic Medicine and Reconstructive Surgery that gives them additional training and experience in diagnosing and treating pelvic floor disorders. 

If you need a Urogynecologist, ask your primary care physician for a referral. It is important that you find someone who is experienced and who you feel comfortable with. At BIDMC, our goal is to provide the best experience possible for our patients and their families.