Tag: breast cancer

Posted on

Significance of BRCA genes in ovarian cancer.

International symbol of breast cancer awareness. (iStockphoto)
International symbol of breast cancer awareness. (iStockphoto)

First, it was Angelina Jolie, who had a double mastectomy because of increased genetic risk of breast cancer due to the presence of BRCA gene. The presence of BRCA gene also increases the risk of ovarian cancer. We know that if you have a family history of ovarian cancer then the risk of ovarian cancer increases amongst women in that family.

Take for example the recent announcement that Pierce Brosnan’s daughter Charlotte Emily died of ovarian cancer at age 42. Brosnan is a former James Bond star whose first wife, Cassandra (Charlotte’s mother), was also killed by the same disease in 1991 when she was 43. I am not sure if Charlotte Emily’s BRCA status is known.

There are two types of BRCA genes known as BRCA1 and BRCA2. BRCA is an abbreviation for breast cancer. These genes are tumour suppressor genes and once they undergo changes (mutation), their capacity to normally prevent cancer from developing is lost. It is now known that women found to have mutations in the genes have a very high risk of developing breast and ovarian cancers.

The genetic mutations are not common. About one in 500 to one in 1,000 individuals will carry a mutation or a gene change in one or another of these genes. It generally occurs amongst people who tend to stay together and don’t have offspring with people from other types of ethnicities. Experts say these mutations tend to stay within one group of individuals.

What distinguishes BRCA1 and BRCA2 genes is where they’re located in the chromosomes. There are also slight differences in terms of the types of cancers associated with the two genes.

The main difference in the two genes is that carriers of the BRCA1 gene mutation have a slightly increased risk of ovarian cancer compared to those with BRCA2. It is also known that carriers of BRCA2 genes have risks of different types of cancers, including pancreatic cancer and melanoma.

For ovarian cancer, women with a mutated BRCA1 gene have a 25 to 65 per cent lifetime risk of developing the disease. Those with a mutated BRCA2 gene have a 15 to 20 per cent chance of developing ovarian cancer.

For men, it is little different. For men with the BRCA2 mutation, there’s an increased risk of both prostate and breast cancers.

Who can ask for BRCA genetic testing?

There has to be a strong family history of cancer. The cancer must have occurred in young ages within the family and if you are a member of ethnic groups known to be affected then you would be eligible. If you don’t meet the criteria but still want to be tested then you can go south of the border and get yourself tested for about $3,000.

Early detection of breast cancer has dramatically changed the prognosis of the disease. We cannot say the same thing about ovarian cancer because we do not have any tests for early detection.

Each year, about 2400 Canadian women are diagnosed with ovarian cancer. Sadly, 1700 women with the disease die each year. In North America, ovarian cancer is the second most common gynecologic malignant disease and is the leading cause of death among women with gynecologic cancer.

More than 60 per cent of the women are in advanced stage when first diagnosed. Their five year survival rate is less than 30 per cent. Their prognosis is poor and they have very few treatment options. Some studies have reported higher survival rates of greater than 90 per cent in women with stage one disease. Only 25 per cent of the women are diagnosed early.

Start reading the preview of my book A Doctor's Journey for free on Amazon. Available on Kindle for $2.99!

Posted on

There are various surgical options for patients with breast cancer.

Doctor and patient. (iStockphoto)
Doctor and patient. (iStockphoto)

Recently, actress Angelina Jolie announced that she underwent a preventive double mastectomy after learning that she carries a mutation of the BRCA1 gene, which sharply increases her risk of developing breast cancer and ovarian cancer. This announcement again increased the discussion in the media about the choices women have when it comes to breast cancer surgery.

Not all women need a double mastectomy if they have breast cancer in one breast. About one in 200 women in North America carries a BRCA1 or BRCA2 mutation. But among certain ethnic groups the prevalence is considerably higher. Notably, the frequency in those of Ashkenazi Jewish ancestry is one in 50. Other groups with high frequencies of mutations include women from Iceland and Poland.

For the vast majority of women, who have no BRCA gene mutation, the following surgical options are available:

-Breast-conserving surgery, an operation to remove the cancer but not the breast itself, includes the following: a) Lumpectomy: Surgery to remove a tumor (lump) and a small amount of normal tissue around it. b) Partial mastectomy: Surgery to remove the part of the breast that has cancer and some normal tissue around it. The lining over the chest muscles below the cancer may also be removed. This procedure is also called a segmental mastectomy. These patients may also have some of the lymph nodes under the arm removed for biopsy. Quite often these patients require radiotherapy after surgery.

-Total mastectomy: Surgery to remove the whole breast that has cancer. This procedure is also called a simple mastectomy. Some of the lymph nodes under the arm may be removed for biopsy at the same time as the breast surgery or after. Most of the time these patients do not require radiotherapy after surgery.

-Modified radical mastectomy: Surgery to remove the whole breast that has cancer, many of the lymph nodes under the arm, the lining over the chest muscles, and sometimes, part of the chest wall muscles.

If the size of the growth in the breast is relatively big (locally advanced cancer) then the patient receives chemotherapy before surgery to shrink the tumor. Treatment given before surgery is called neoadjuvant therapy.

Treatment after surgery consists of radiation therapy, chemotherapy and hormonal therapy even if the doctor removes all the cancer that can be seen at the time of the surgery. This is to kill any cancer cells that are left behind. Treatment given after the surgery, to reduce the risk of recurrence, is called adjuvant therapy. Again, not all breast cancer patients require adjuvant therapy. Your oncologist decides on this depending on the stage of the cancer, what kind of surgery you had and what is your risk of having cancer recur.

Women who opt to have their breast completely removed can have breast reconstruction done. Breast reconstruction may be done at the time of the mastectomy or at a future time.

Some of you must have heard about sentinel lymph node biopsy in cancer surgery. The sentinel lymph node is the first lymph node to receive lymphatic drainage from a tumor. It is the first lymph node the cancer is likely to spread to from the tumor. This is biopsied. If it is negative for cancer cells then it may not be necessary to remove more lymph nodes.

This is a very simplified way to explain to you what kind of treatment options are available for women with breast cancer. In each case, your surgeon and oncologist will advise you what your options are. Because of the technology, experience and expertise of our doctors, the prognosis of breast cancer has improved a lot. So do not panic. There is plenty of help for women with breast cancer.

Start reading the preview of my book A Doctor's Journey for free on Amazon. Available on Kindle for $2.99!

Posted on

Mammograms Lead to Many Unnecessary Breast Cancer Treatments

Woman getting a mammogram. (JupiterImages/Thinkstock)
Woman getting a mammogram. (JupiterImages/Thinkstock)

Mammography is known to be an imperfect screening tool for detecting breast cancer. Similar to the PSA test for men to detect prostate cancer. According to Wikipedia, mammograms miss cancer (false-negative) in at least 10 per cent of cases, about seven per cent will have a false-positive result which lead to biopsies and other tests. Then there are women who are over diagnosed. That means finding a cancer that does not need treatment.

Let me be clear, mammograms are still worthwhile. They do catch some deadly cancers and save lives. Not all doctors agree with the conclusions in the paper published this November in the New England Journal of Medicine titled, “Effect of Three Decades of Screening Mammography on Breast-Cancer Incidence.”

But the paper is worth discussing. According to Canadian Cancer Society website, breast cancer accounts for over a quarter (28 per cent) of new cancer cases in women. On average, 62 Canadian women will be diagnosed with, and 14 women will die of breast cancer every day.

Researchers looked at 30 years (1976 – 2008) records to examine trends in the incidence of early-stage breast cancer (ductal carcinoma-in-situ and localized disease) and late-stage breast cancer (regional and distant disease) among women 40 years of age or older.

The results of the study indicate that introduction of screening mammography in the U.S. is associated with a doubling in the number of cases of early-stage breast cancer each year, the rate at which women present with late-stage cancer has decreased by eight per cent and only eight of the 122 additional early-stage cancers diagnosed were expected to progress to advanced disease.

The researchers estimated that breast cancer was overdiagnosed in 1.3 million U.S. women in the past 30 years. These cancers would never have led to clinical symptoms. In 2008, breast cancer was overdiagnosed in more than 70,000 women; this accounted for 31 per cent of all breast cancers diagnosed.

Finding breast cancer early does not mean it will always reduce a woman’s chance of dying from breast cancer. This can change if mammograms begin to detect deadly breast cancer before they spread. Once a suspicious area is seen on a mammogram, there is no good way to tell if it is cancer, if it is an early cancer or a deadly one, until patient has had surgery. It would be nice to tell an individual woman whether her cancer needs to be treated just by looking at a mammogram.

That does not mean we stop doing mammograms. Mammograms are still worthwhile, because they do catch some deadly cancers and save lives. Do not stop going for mammograms on the basis of this paper.

Start reading the preview of my book A Doctor's Journey for free on Amazon. Available on Kindle for $2.99!

Posted on

Inflammatory Breast Cancer is a Rare and Very Aggressive Disease

A woman making a heart frame for the pink badge. (iStockphoto/Thinkstock)
A woman making a heart frame for the pink badge. (iStockphoto/Thinkstock)

Inflammatory breast cancer accounts for less than five percent of all breast cancers diagnosed in North America. Most inflammatory breast cancers are invasive ductal carcinomas. They develop from cells that line the milk ducts of the breast and then spread beyond the ducts.

It is a very aggressive disease with symptoms that include redness, swelling, tenderness, and warmth in the breast. As if you have an abscess of the breast. But it may be cancer.

The breast swells up because cancer cells block lymph vessels in the skin of the breast. The disease progresses rapidly, often in a matter of weeks or months. By the time the diagnosis is made it is either stage III or IV, depending on whether cancer cells have spread only to nearby lymph nodes (stage III) or to other tissues as well (stage IV).

It is more common and diagnosed at younger ages (median age of 57 years, compared with a median age of 62 years for other types of breast cancer). It is more common in African American women than in white women. It is more common in obese women than in women of normal weight. It can occur in men.

Rapid diagnosis and treatment is key to successful treatment. An international panel of experts published guidelines on how doctors can diagnose and stage inflammatory breast cancer correctly. These are:

1. A rapid onset of redness, swelling, and a peau d’orange (skin of an orange) appearance and/or abnormal breast warmth, with or without a lump that can be felt.

2. The above-mentioned symptoms have been present for less than 6 months.

3. The redness covers at least a third of the breast.

4. Initial biopsy samples from the affected breast show invasive carcinoma.

A diagnostic mammogram and an ultrasound of the breast and regional (nearby) lymph nodes is part of the diagnostic workup. A PET scan or a CT scan and a bone scan is done to see if the cancer has spread to other parts of the body.

Inflammatory breast cancer is treated first with systemic chemotherapy to help shrink the tumor, then with surgery to remove the tumor, followed by radiation therapy. This approach to treatment is called a multimodal approach. Studies have found that women with inflammatory breast cancer who are treated with a multi-modal approach have better responses to therapy and longer survival. If a woman’s biopsy samples show that her cancer cells contain hormone receptors, hormone therapy is another treatment option.

What is the prognosis of patients with inflammatory breast cancer?

Since this is an aggressive tumour, in general, women with inflammatory breast cancer do not survive as long as women diagnosed with other types of breast cancer. According to statistics from National Cancer Institute’s Surveillance, Epidemiology, and End Results (SEER) program, the 5-year relative survival for women diagnosed with inflammatory breast cancer during the period from 1988 through 2001 was 34 percent, compared with a 5-year relative survival of up to 87 percent among women diagnosed with other stages of invasive breast cancers.

National Cancer Institute’s website encourages women with inflammatory breast cancer to voluntary for ongoing research. The research, especially at the molecular level, will increase our understanding of how inflammatory breast cancer begins and progresses. This knowledge should enable the development of new treatments and more accurate prognoses for women diagnosed with this disease. It is important, therefore, that women who are diagnosed with inflammatory breast cancer talk with their doctor about the option of participating in a clinical trial.

Start reading the preview of my book A Doctor's Journey for free on Amazon. Available on Kindle for $2.99!