Genetic Testing for Breast Cancer

Genetic Testing for Breast Cancer: How it Helps

Thanks to Angelina Jolie, there has been much talk in recent years about the possibility of genetic testing to check an individual’s risk of developing breast cancer. Ever since the actor underwent preventable double mastectomy after discovering that she carried gene mutations, more people are interested in understanding the concept and whether risk reduction is actually possible.

Do I have a genetically higher risk of suffering from breast cancer? Are most breast cancers attributable to gene mutation? Will all people with mutation in BRCA-(cancer causing genes) go on to develop breast cancer? When it comes to genetic testing for cancers, a lot of questions abound in the minds of common people. While the “Angelina Jolie Effect” raised much awareness about the hereditary breast and ovarian cancer syndrome (HBOC), there are a lot of prevalent myths and misconceptions that need to be cleared.

What is genetic testing?

Simply, put, genetic testing searches for specific changes in a person’s DNA .Genetic changes can have harmful, beneficial, neutral (no effect). Mutations that are harmful may increase a person’s chance, or risk, of developing a disease such as cancer. Overall, inherited mutations are thought to play a role in about 5 to 10 per cent of all cancers.

Breast Cancer: The problem

Breast cancer is today the leading cause of cancer related deaths in women in India, surpassing cervical cancer. According to estimates of World Health Organization (WHO), roughly 144,937 women in India were detected with breast cancer in 2012 and 70,218 died of it, making it one death for every two new diagnoses. With the incidence of the disease rising by more than 20% since 2008, India is expected to have a whopping 200,000 new cases of breast cancer per year by 2030.

Age, sex, ethnicity and genetic predisposition are main risk factors for breast cancer. However, today there has also been a rise in risk factors propelled by lifestyle. Like diabetes, hypertension and cardiovascular disease, rise in breast cancer incidence in India can also be attributed to the increase in urbanization, rapid adoption of westernized lifestyles, and shift in reproductive behavior, with increasing number of younger women reporting the disease.

Women who are diagnosed at a younger age also are more likely to have a mutated BRCA1 or BRCA2 genes which present poor prognosis. Doctors are also reporting the prevalence of more aggressive cancers in younger women. Hence, it becomes important to educate and create awareness about the need of genetic counseling and genetic testing for breast cancer.

What is Genetic Mutation?

Some women have a genetic mutation in the tumor-suppressing BRCA1 and BRCA2 genes. These genes, in normal cells, help prevent cancer by making proteins that keep the cells from growing abnormally. However, in case there is a genetic mutation in these genes, the risk of cancer is high for both breast as well as ovaries.

In people with normal genes, the risk of breast cancer is 12 per cent. Yet, in a person with mutation in BRCA 1 genes, the risk stands at 50-80 per cent and in a person with mutation in BRCA 2 genes, the risk is 40-70 per cent.

Similar is the case with ovarian cancer. While an individual with normal genes stands a 1-2 per cent risk of developing ovarian cancer, a person with BRCA 1 mutation has her risk amplified to 24-40 per cent and 11-18 per cent in case of BRCA mutation.

The cancer risk is amplified by mutation in both genes or one. We need to bust the prevailing myth that one of the BRCA genes is responsible for breast cancer, while the other for ovarian cancer.

Benefits of testing for BRCA1/2: Is Genetic testing a foolproof solution?

A lot of concerned women ask whether undergoing genetic testing and having its results in hand will help them prevent breast and ovarian cancer with utmost certainty. Or whether having a gene mutation means they will certainly develop the disease at some point of time in life. The answer to both questions is no.

Although they are at increased risk, not all people with BRCA1/2 mutations go on to develop cancer. Among those who do develop cancer, the age of onset and type of cancer varies. The BRCA1/2 mutations run in families. They may be inherited from a person’s mother or father. There is a 50 per cent (or one in two) chance that a child born to a parent who carries a mutation in one of these genes shall inherit the mutation.

The test cannot predict ‘if’ or ‘when’ the person will develop breast or ovarian cancer; it can only determine if he or she is at risk because of the faulty gene(s). However, a negative test result affords freedom from anxiety about either your/your progeny’s risk for inheriting the family’s cancer susceptibility. At the same time, an early diagnosis of a positive result could mean better overall prognosis or outlook.

·  If you test positive, you can consult your genetic counselor and decide on taking a preventive action such as a preventive removal of the ovaries and breasts.

·  If you test positive, you would also know the need to be additionally alert against these diseases; so that you will make sure you undergo regular screenings and mammography. Early diagnosis of breast cancer makes  a big difference to life and death, and also ensures you have to undergo less aggressive treatments as compared to people diagnosed in later stages.

·  The Food and Drug Administration (FDA), U.S.A., has approved several drugs, and drug combinations for breast cancer prevention, and treatment. Tamoxifen and Raloxifene reduce the risk of developing breast cancer, and are used for risk management among women who carryBRCA1/2 mutations.

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Who should undergo genetic testing?

Individuals with family history of any of these conditions should undergo testing:

·  Cancer in both breasts in the same woman.

·  Breast cancer diagnosed  before  50 years of age.

·  Breast and ovarian cancers in either the same woman, or in the same family.

·  Multiple tumors found in the same breast.

·  Two or more primary types of BRCA1- or BRCA2-related cancers in a single family member.

·  Case of male breast cancer.

·  Certain ethnicities, such as the Ashkenazi Jews.

What are the tests available in India?

A battery of genetic tests is available in India: Hotspot testing, Carrier testing, Full gene sequencing, Deletion/duplication analysis, and Breast Ovarian Cancer Panel (Massive Parallel Sequencing analysis of multiple genes including BRCA1/2).

CORE Diagnostics offers the entire range of testing, along with free genetic counseling for guiding medical follow-up.

Ms. Anika Parashar, COO, Fortis La Femme and a globally renowned counsellor believes that it’s not only the severity of the disease but also the stigma around it that is to be dealt with it. 

What are the common stigmas and how can they be tackled?

 The foremost stigma about Breast Cancer is that it changes your life forever. It leaves you with physical and emotional devastation, wounded in both body and spirit. And while you mostly recover, you can never return to your life like before. Plucked from the healthy herd, you are branded a “survivor” – and nothing will ever be the same. You are confirmed to be completely cured of it only if you die of something else.”

But all of this can be tackled by positive counselling of the patient and  the family. Counselling can help you to cope better with the many difficulties you face, during and after your cancer diagnosis and treatment. It can help reduce the stress you face and improve your quality of life.It has also been scientifically proven that women experienced a boost in their immunty. A counsellor may help you to find different ways of coping that had not occurred to you before. And because counselling is confidential, you can be honest about what is bothering you. 

 Breast cancer & related issues

There are a few things about breastcancer which, if taken care off can keep you away from it! First and foremost, know your breasts, the feel and lookof your breasts and hence a monthly self-examination is key. Breast self-examination should be done immediately after your periods and if you notice any mass, lump, retraction or discharge from nipples or an uneven size of the breasts you must consult a physician.  The risk factor increases when you have a family history of a breast carcinoma.

Apart from the family history there are other factors like aging, benign breast problems, early exposure to ionizing radiation, having children later in life or not at all, lack of exercise and drinking alcohol. All women above the age of 40 should have an annual mammography. Early breast cancer is completely treatable .All breast cancers are not the same! Some grow early, some grow fast and hence the prognosis for all is not the same. Breast awareness can help reduce the deaths from breast cancer, so be Breast Aware! 

There are a few concerns which often come handy with Breast Cancer. Nutritional status and dietary intake play a significant role in the prognosis of breast cancer patients and may modify the progression of disease, as well as influence risk for comorbid conditions, such as osteoporosis and cardiovascular disease. Some other common late effects include an early menopause, emotional distress and depression, fatigue or insomnia (trouble sleeping), fear of recurrence, sexuality and intimacy issues.