The genetics of cancers

The genetics of cancers:

My recent post about breast cancer awareness raised some important issues about families that have multiple members with breast cancer or any other cancer.

About 15 years back during one of my trips to Pune I visited my atya( dad’s sister). I noticed she had lost significant weight. I asked if she had done it deliberately. She told me despite her usual diet she had been losing weight lately. I didn’t make much of it. Sometimes elders lose muscle mass and lose weight. She was 70 at the time. 

Soon after I came back from India I was told that this same aunt had suddenly developed fluid in her belly. Putting two and two together I sensed that her recent unexplained weight loss and now swelling in the tummy was not a good sign. 

I called her up. She had made up her mind she would not go for any tests or treatment. Her husband practiced homeopathy and she started using his medications. I called again a week later to talk to her. She has three daughters. Without a definitive diagnosis for her, the daughters would never know what kind of cancer she had and thereby what risk they carry. My sweet atya agreed to my suggestion to get an ultrasound guided aspiration of the fluid in her abdomen ( belly) to test for the cells. But that’s it. She was firm about not getting treatment. She passed away just a month or so later.

The tests from the fluid had confirmed she had ovarian cancer. Now the daughters have some answers.

Many cancers have a genetic mode of transmission. They appear in family members in multiple generations. In the past few decades research has identified certain genes that are linked to particular cancers and these genes can predict the risk for that cancer in individuals with a family history of multiple members with cancer. Generally the person who got the cancer is tested for the gene. If that person is positive only then other first degree relatives are recommended testing. Conversely, if the index person tests negative then the rest of the family need not be tested. 

Question arises what next if a family is found to be positive for a cancer gene? In many cases, the screening procedures like mammography( for BRCA 1 or 2 mutations) or colonoscopy for familial polyposis mutations are recommended at earlier ages than the general population. Some family members with strong breast cancer risks are even recommended precautionary mastectomies and removal of ovaries to reduce their risks. 

An important point I would like to make here is that if the test for a genetic mutation comes back negative that should not be taken as zero risk for getting cancer. The standard screening protocols of mammogram, colonoscopy etc must still be followed by these individuals. 

Take home message for those of you reading this post is:

 find out in as much detail as you can about cancer history in your family( grandparents, parents, aunts, first cousins). If there is a pattern noted, consult with a geneticist.

If a genetic test comes positive, be vigilant about timely screening appropriate for the risk as well as stay alert about symptoms of the disease. 

If the genetic test is negative continue standard screenings for your age.

Besides breast cancer screening, women are recommended colon cancer screening either with a colonoscopy or a stool globin test after age 45( used to be 50, now age is lowered). 

Women aged between 21 to 65 should also get regular papsmears to screen for cervical cancer. This test is recommended every 3 years until age 30 and every 5 years after age 30, if the result is normal. It may need earlier follow up if result is not normal. 

Smokers with more than 30 years smoking history are eligible for yearly screening with a CT scan for lung cancer.

Some cancers like ovarian cancer, pancreatic cancer, kidney or bladder cancers, unfortunately do not have screening tests presently. Because of this often times it is too late when one gets symptoms to prompt testing. Unexplained weight loss, jaundice, blood in urine, increasing swelling over the belly, coughing or vomiting of blood are some of the symptoms that should raise red flags. 

While this is scary, the intention is not to create anxiety and fear. Intention is to educate, increase awareness, encourage timely screenings and reporting symptoms to your physician promptly. Health is wealth. Guard it with understanding and responsibility.

Today’s saree is a cotton Kotpad. Paired it with an Odisha ikat blouse. 

The skies were really beautiful this morning both on the eastern side and western side. Sun was up on one and a near full moon was setting on the other. The clouds gathered both places to add color.