Worried About Breast, Ovarian Cancer? Genetic Testing Could Help

India accounts for the third highest number of breast cancer and second highest number of ovarian cancer cases among women, globally. Also, three times more cases of familial breast and ovarian cancers are recorded in India, as compared to western countries. It is projected that cancer incidence in Indian women will increase to 190-200 cases per lakh by 2025. Mortality to incidence ratio is worst in India for breast and ovarian cancers with one in every 28 women likely to develop it during her lifetime and one in every two women diagnosed with it, succumbing to it.

Harmful mutations (multiple changes in DNA sequence) in BRCA1 and BRCA2 genes are known to be associated with high risk of developing hereditary breast and ovarian cancer (HBOC) syndrome (Table 1).
 
About 20-25 percent of breast cancer cases are attributed to mutations in BRCA1 and BRCA2 genes. There is also an increased risk of developing cancer in other breast and/or ovarian cancer, after the first onset of breast cancer, in women who carry mutated BRCA1 or BRCA2 genes.

The harmful germline mutations in other genes such as TP53, CHEK2, STK11, BARD1, ATM, BRIP1, CDH1, PALB2, RAD51C, RAD51D, RAD50, NBS1, PTEN accounts for about 10 percent of familial breast and ovarian cancer cases.

Next Generation Sequencing based genetic test is a blood test that uses technique to analyse genomic DNA for detecting mutations in the multiple genes in a single assay. This is a  highly sensitive and robust sequencing method that generates more reliable results. It is a comprehensive assay covering single nucleotide variations (SNVs) and short insertions and deletions (InDels) and a cost-effective alternative to other available techniques with a shorter turnaround time.

BRCA1 and BRCA2 genetic test helps to identify the hereditary risk (presence of personal or family history) accurately and also helps to recognise the disease prognostication (impact on overall survival rate of breast cancer patients) and adds theragnostic value (deciding the best drug treatment). One of the most important utilities of the test is to improve early detection by 1.5 to 2.5 times and, therefore, increase the overall survival and reduce the cost of treatment.

Who Should Get Tested?

Genes are inherited, therefore, knowing your family history is significant when determining breast cancer risks. If either of your parents has a BRCA1 or BRCA2 mutation, you have a 50 percent chance of inheriting the mutated gene. One should consider gene testing if any one of the following conditions are predominant:

• A personal history of breast or ovarian cancer diagnosed at young age (pre-menopausal), bilateral breast cancer (affecting both breasts) or presence of both ovarian and breast cancer
• A family history of breast, ovarian, fallopian tube, peritoneal, prostate, or pancreatic cancer
• A male family member having breast cancer
• A relative with a known deleterious mutation in BRCA1 or BRCA2 genes
• A history of breast cancer diagnosed below the age of 45 years
• A family member with bilateral breast cancer below the age of 50
• An individual with triple negative breast cancer below the age of 60 years with or without family history
• Two or more relatives with ovarian cancer
• Both breast and ovarian cancers in either the same woman or the same family
• Ashkenazi Jewish ethnicity

BRCA1 and BRCA2 gene test has different implications on asymptomatic individuals and newly diagnosed patients.

i) A positive test result in an asymptomatic individual would help in disease prevention, early detection and better management of the disease by increased surveillance, using risk reducing chemoprevention and/or surgical interventions. Bilateral total mastectomy and oophorectomy may also reduce the risk of breast cancer and ovarian cancer in mutation carriers.

ii) A negative test result means there is no mutation in BRCA1 and BRCA2 genes. A person with negative test result holds same risk of developing breast cancer as someone in the general population.
iii) An ambiguous result occurs when a genetic test finds a change in BRCA1 or BRCA2 that has not been reported to be directly associated with breast cancer till date. This type of test result may be described as “a genetic variant of uncertain significance” because it is not known whether this specific genetic change is harmful. A study in Asian women found that 7.8 percent of women who underwent BRCA1 and BRCA2 mutation testing had this type of ambiguous result.

In newly diagnosed patients with breast or ovarian cancer, gene test results help to guide disease management and drug treatment decisions.

Genetic counseling is highly recommended before undergoing genetic test (pre-test counseling) and after the results are disclosed (post-test counseling). Genetic counselor can help decide whether genetic testing is needed based on the personal and family history and various other risk factors. If genetic testing is indicated, it should occur early in the cancer trajectory as patients who carry a mutation may receive more aggressive treatment.

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Widely-Available Genetic Risk Tests Aren't Always Useful – and Could Even be Harmful

Genetic testing used to be something that happened in a specialist clinic for those few families that had serious inherited conditions, like Huntington’s Disease or rare cancers.

Now, new genetic tests called “polygenic risk scores” have increased access to genetic risk information for a wide range of conditions. With a few clicks of a mouse and a few hundred dollars, anyone can access their or their genetic risk scores for diabetes, obesity, breast cancer, autism, and schizophrenia.

These scores aren’t always useful, and, in some cases, they could be harmful.

Results can be misleading
Previous approaches to genetic testing looked at just one gene for which particular mutations are known to cause disease. The newer technology of polygenic risk scores is calculated from hundreds, if not thousands, of genetic markers measured from your DNA at many points on the genome. These measurements are fed into a formula, based on studying people who do or do not have a condition, to produce a “personalised” genetic risk score.

While researchers are looking at how these tests might be used by doctors to predict type 1 diabetes in newborns, or prescribe the right medications for people with heart disease, companies like 23andme are forging ahead with products that offer polygenic risk scores for diabetes and other conditions to their customer base of over 10 million. As these are classified as “general wellness” products by US regulators, they can be provided without medical support.

Before we jump wholeheartedly into the new world of genetic health and medicine, it’s important to consider the implications for patients and clinicians, and especially for consumers outside the clinic. Even if risk scores incorporate information from many different genes, there are two things they currently miss.

First, polygenic risk scores currently account for only a small proportion of a person’s total genetic risk. Second, environmental risk factors are also important and likely multiply the risks associated with genetic factors. A genetic risk score alone can give a misleading picture of your actual disease risk.

They can be inaccurate

There are questions about the accuracy of the genetic scores. Scores are calculated using past research into genetic associations with a particular condition. That is the gene variants that are more commonly seen in people with the disease.

But knowing what gene variants are more common in people with a disease is different from knowing what gene variants will predict that someone without the disease will get it later in life. While more research is needed to develop genetic tests that are useful for predicting complex chronic diseases, some companies are forging ahead with genetic risk products of doubtful accuracy.

Companies marketing genetic risk scores might use their own specific formula drawing on different published data to generate the risk predictions they return to their consumers. This means that one person could submit their samples to multiple companies and have different – and sometimes conflicting – results returned to them.

Some consumers of genetic ancestry tests know this well, as results from the same company drastically change when they update their formulas.

In rare cases, the results of genetic testing can be plain wrong, with distressing consequences. One woman had her breasts surgically removed to reduce her risk of breast cancer after receiving a genetic test result that turned out to be incorrect.

In addition, the jury is still out on whether knowing you are at an increased genetic risk for something will lead to a decrease in your risk of developing the condition. There is evidence from research on depression, for example, that suggests knowing you are genetically at risk may hinder rather than help recovery.

Testing could increase health disparities

Even if the predictive power of a particular genetic risk score is beyond doubt, it may only be accurate for a minority of the population who have only European ancestors.

About 80% of the data used to derive the scores have come from studies of people of European descent (who account for only 16% of the world’s population).

So these scores might be less accurate for people from other backgrounds. If these new tools are applied to improve health for people of European ancestry, they could increase health disparities.
The ethics of ‘designer babies’

All these issues are compounded if the person buying the test is a prospective parent seeking to select an embryo for implantation.

Within the clinical setting, pre-implantation genetic testing – used in tandem with IVF – can help parents who want to ensure their future child does not develop a serious genetic disease that runs in their family. But some companies are now offering to calculate polygenic risk scores that allow prospective parents to select embryos that have a lower risk score for diabetes, heart disease, cancer, short stature or low intelligence irrespective of the family history.

These products raise serious and wide-ranging scientific and ethical concerns. Researchers have questioned whether selecting embryos based on these tests will produce the outcomes parents might expect. Others have raised broader concerns about the long term effects of embedding inequities in our genes.

National agencies that regulate the use of these emerging technologies will need to tread carefully when considering how polygenic risk scores could be used in embryo selection.

For now, more research is required to improve the accuracy of polygenic risk scores, to assess their appropriate use outside of the clinical setting, and to work out how to best support consumers who may find themselves in an uncertain position.

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14 Things Ob-Gyns Desperately Wish You Knew About Ovarian Cancer

The early symptoms of ovarian cancer are easily missed, so getting educated is the best thing you can do to protect yourself!

Ovarian cancer is often mistaken for stomach problems

“Early symptoms of ovarian cancer tend to be subtle. Bloating, constipation, stomach pain, irregular bleeding, pelvic pressure, and even a sensation of ‘feeling full’ after eating little are all early signs but women often ignore these, writing them off as gastrointestinal problems, or try to self-treat rather than seeking medical attention.

Birth control pills and babies are your friends

“Some of the biggest risk factors for ovarian cancer are associated with how often you ovulate. The more you ovulate, the more at risk you are for ovarian cancer.  So women who have have never had a child, never used the birth control pills, started menstruating early, and/or experienced menopause after the age of 55 are at a higher risk and should have more frequent check-ups.” —Sherry Ross, MD, women’s health expert at Providence Saint John’s Health Center in Santa Monica, CA

There is no good test for detecting ovarian cancer

"When it comes to ovarian cancer, unfortunately there's no reliable universal screening method (like the Pap test is for cervical cancer) and the symptoms can be vague and confused with many other illnesses. The best approach is to have a thorough yearly exam, which may include a pelvic ultrasound to better evaluate the ovaries for any abnormalities. Furthermore, women with a family history of either breast or ovarian cancer should discuss genetic testing to better understand their chances of developing these cancers. If a woman has a genetic predisposition for these cancers, there are prophylactic procedures that can greatly reduce the chances of getting these cancers and increased surveillance can be instituted. As with all cancers, early detection is always best."

Ovarian cancer is rare but deadly

"The American Cancer Society estimates that in the United States in 2016 about 22,280 women will get a new diagnosis of ovarian cancer. More than half of these—about 14,240 of our mothers, sisters, aunts, daughters, neighbors, co-workers and friends—will die of the disease. Ovarian cancer, though a relatively rare cancer, ranks fifth in cancer deaths of women." 

You can help your family

"Because ovarian cancer can be hereditary all women with ovarian cancer should have genetic testing.  If you have a BRCA1 or BRCA2 mutation, encourage all your first-degree relatives (like sisters or daughters) to have their genetic testing done. Through genetic testing we can prevent up to 20 percent of all ovarian cancer cases today by identifying those who are at a high risk."

It's not an automatic death sentence

Many people think that we are not making progress in our fight against ovarian cancer but we are. Over the past 30 years treatments have gotten much more effective and are better tolerated. Nowadays women are living longer and better lives. We have a lot of work still to do, but we are making headway against this very aggressive disease. "

It's linked to colon cancer

"Recent research has shown that a family history of colon cancer could put you at risk for an increased risk of both ovarian and uterine cancer.  It's important to seek genetic counseling and talk to your doctor if you have a family history of these cancers." 

Don't underestimate the power of exercise and a healthy diet

"Overall worrying about ovarian cancer should be low on your list of worries. It is a scary disease but focusing on staying healthy through proper diet and exercise will not only lower your risk of getting ovarian cancer but it can help lower the risk of getting all cancer and protect you from heart disease, which is the leading cause of death in women in the United States." 

Ovarian cancer is often not caught until it's at stage 3

 "Because of where the ovaries are located in the abdomen and the fact there are no effective screening tests to diagnose ovarian cancer at an earlier stage, it is often not caught until a late stage in the disease. In fact, ovarian cancer is usually not symptomatic until the ovarian mass is large or until other organs are affected. It is important for women to be aware of symptoms of ovarian cancer, including abdominal fullness or bloating, early satiety (feeling full quickly when eating), and urinary complaints. While none of these are ovarian-specific, they are worrisome and warrant an evaluation."

This is why your yearly gynecology exam is so important

"Symptoms of early-stage ovarian cancer are commonly overlooked. In fact, a survey found 76 percent of women are not confident they could even identify symptoms of ovarian cancer. It is critical for women to have an annual visit to the doctor and discuss any and all symptoms they may be experiencing, particularly if those symptoms are persistent or a change from the norm." 

Sometimes a burp isn't just a burp

"The high death rate of ovarian cancer is due, at least in part, to the vague, nonspecific symptoms that are experienced in the early stages. Bloating, pelvic, or abdominal pain and urinary symptoms are often the chief complaints. My sister, who passed away from the illness, primarily complained of painful gas. She began to try to burp or pass gas no matter where we were as it gave her such relief that social norms became an afterthought. Yet cancer would be very low on most physicians’ list of possibilities for a woman complaining of belching and flatulence. This is why if you feel something is wrong, it's important to be insistent and persistent in advocating for your health."

You need to see a specialist

"If you are diagnosed with ovarian cancer, ask to be referred to a specialist. Studies show that seeing an ovarian cancer specialist (such as a gynecologic oncologist) leads to significantly better survival and outcomes.  In a recent publication this year with nearly 8,000 women, less than half received optimal surgery and chemotherapy.  There may be many reasons for this, but I think a big one is the lack of awareness that experts exist and seeing one early can make a big, big difference."

Consider this one more reason to maintain a healthy weight

"Heredity is not destiny. Only about 10 percent of ovarian cases are due to genetic mutations, which means 90 percent of ovarian cancer cases are preventable.  And even in that 10 percent of cases that are "hereditary" the risk can be significantly reduced by lifestyle choices which are 100 percent under your control. Because obesity is a major risk factor, losing weight can help protect you." 

You have options besides surgery

"Surgery is the mainstay of initial treatment but all newly diagnosed patients with ovarian cancer should see a gynecologic oncologist to determine what treatment plan is best for them. For some, biological or medical treatments might be used prior or in addition to having surgery."

 

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Genetic testing guidelines for breast cancer are outdated

Genetic testing guidelines for breast cancer are out-of-date and miss nearly half of patients diagnosed with the malignancy, doctors found in a new analysis of who gets tested and who doesn't. 

Health insurance companies and government payers base how they reimburse patients for tests and procedures on existing medical guidelines. Genetic testing recommendations for breast cancer are two decades old, established by  a group of 28 cancer centers nationwide.

The guidelines focus on two well-known breast cancer mutations—BRCA 1 and BRCA 2—which were discovered in the 1990s. Since then, dozens of other genes related to breast cancer have been found, and if patients do not undergo appropriate genetic screening, they may not receive appropriate care for their form of the disease, doctors said in the report published recently.

Ten percent to 15 percent of about 250,000 women diagnosed annually in the United States with breast cancer have some type of genetic flaw, according to the doctors. A very small percentage of men develop breast cancer, usually stemming from a BRCA 2 mutation.

"The guidelines are very limited and need to be changed," said a researcher.

She added that the recommendations are rooted in dated science at a time when dozens of other cancer-related genes not only have been found, but can be revealed in newer tests.

Long after the discovery of BRCA 1 and BRCA 2, scientists identified a dozen other key gene mutations related to breast cancer, as well as 25 or so genetic variants that are related to multiple forms of cancer, including breast cancer. As many as 80 cancer-related genes can be revealed in full-panel screening tests.

Costs for genetic screening have dropped substantially in recent years, from more than $3,000 for BRCA 1 and BRCA 2 screening to about $300 for the broader panel of tests. 

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Oncologists take to precision medicine

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 When Anant's colon cancer relapsed early this year and chemotherapy was recommended, he requested for treatment with the least side-effects. His doctor sent his blood sample for a specific chemotherapy he had in mind. The doctor is thanking his foresight after the test results showed that Anant severely lacked an enzyme needed to process or metabolize that particular chemotherapy drug. Had he been administered it, Anant may have had life-threatening side effects.

Such personalized or precision cancer care is about analysing a patient's tumour to determine what combination of drugs will work best. With this level of specificity also comes a greater potential to decrease toxic side effects, say experts.

"The study of analysing blood to test for genetic variants of enzymes that help process different types of drugs is called pharmacogenomics. Each individual processes a drug differently depending on his or her unique genetic make-up. What happened in Anant's case is one of the examples of precision medicine," medical oncologist Shona Nag said.

Precision cancer medicine is used to describe treatments which are given to patients with similar tumours, but tailored according to their unique genetic, physical and psycho social characteristics.

Two women, Arpita and Anjali, have the same stage and type of breast cancer and both required chemotherapy. "Arpita had severe diabetes and Anjali did not. The specialist chose different chemotherapies for each of them, making sure that Arpita did not suffer from side effects. Her treatment was personalized according to her special needs," said Nag.

Precision medicine is driven by newer diagnostic and therapeutic technologies and relies on the advances made by genetic sequencing of tumours and blood to precisely identify which treatment should be used and when.

"It helps choose the correct treatment for a particular tumour sub-type," Nag said. She heads the medical oncology department at Jehangir Hospital and is trustee of Nag Foundation that works in cancer care, research and education.

Software professional Rajat was recently diagnosed with advanced stage four lung cancer.

Ten years ago, despite undergoing chemotherapy sessions, he would not have survived for more than 6-8 months. Rajat was put through a biopsy and one of the lungs showed a type of cancer called adenocarcinoma. The tumour is subjected to genetic testing for abnormal `driver mutations'.

"These are genetic changes which actually drive the growth of the tumour," Nag said. Rajat was put on a new oral targeted therapy directed to stem this mutation. Since he responded well to treatment, it has significantly improved his chances of survival.

 "Lung tumours can be sub-typed into distinct groups based on genetic profiles.There are specific non-chemotherapeutic drugs which treat these tumours. These are all examples of precision medicine," Nag said Precision medicine helps avoid unnecessary chemotherapy as well. Rashmi, a 43 year-old homemaker, was recently operated for breast cancer and the tumour which was removed, was a mild sub-type.
Her surgeon recommended that she see a medical oncologist for chemotherapy and when Rashmi explained her reservations to her oncologist, a genetic test called endopredict was done which characterized her tumour as low risk and she could safely avoid chemotherapy and take hormone tablets.
"Our treatment choices are now very precise with genetic tests on the tumour and especially in breast cancer it is now possible to avoid unnecessary treatments which may not benefit the patient at all," breast surgeon Anupama Mane said.

Success stories abound, but medical science has not achieved breakthroughs in treating many tumours.

Genetic sequencing and genetic profiling have identified many mutations in tumours. "Often, we don't know if these mutations are important enough to drive the tumour growth and spread. We can find the driver mutations, but there may not be effective drugs. So there are many caveats in precision medicine. It is the future of cancer care and it can change the way we treat cancer," Nag said.

Molecular geneticist Nikhil Phadke said, "We see patients with blood, breast, lung, and colon cancer being referred for genetic testing on a routine basis. This testing is either for predictive purposes or for precision medicine guidance, where genetic tests are increasingly being used to determine which drug may be used for treatment."

In some cases, more sophisticated genetic tests are required to ascertain why the patient is no longer responding well to the first choice drug, he added. "We have had more than a few cases where patients respond well after being put on a new drug based on the results of these tests," Phadke said.