Spread the Word: Make a Genetic Test Work for Your Family And Clan

560 315 Shefali Sabharanjak

 

How do we react to a life-changing experience? Do we get overwhelmed or do we accept it and turn it around to make the most of the situation?

Now you are wondering whether this is a genetics blog or a Philosophy 101 module, right? However, this is precisely the crux of two extensive mega-cases that were analyzed recently at Strand.

Take the case of Mr. Ramakant Patole*, a new-age agriculturist, living near Pune. He was diagnosed with not one by TWO cancers, within a span of 9 years. His tryst with cancer started with pancreatic cancer at age 56 years and a second diagnosis of male breast cancer, at the age of 65 years. Male breast cancer, you ask? Yes, that’s right- cases of men suffering from breast cancer are uncommon but not unheard of.

Now, whenever there are many people within a family who get diagnosed with cancer OR if there are two different primary cancers detected in the same person, these are indications that there might be a hereditary mutation in cancer predisposition genes, present.

Accordingly, Mr. Patole was advised to take the Strand Germline Cancer test, to get to the bottom of his multiple cancer situation. Predictably enough, a germline mutation in the BRCA2 gene was identified in his genome. The test results not only provided closure for the emotional distress of having to face two and perhaps many other cancers in the future, but it also indicated his eligibility for receiving PARP inhibitor therapy, along with chemotherapy.

Here comes the most interesting part! Mr. Patole gathered his flock of siblings and their children and proactively convinced them to undergo genetic testing as well. He had spent money on getting the complete Strand Germline Cancer test. However, his family members could now take advantage of a simpler, rapid and more convenient test- A Mutation-Specific Test.

The first or index patient in a family that is referred to us for genetic testing is designated as the ‘Proband’. Now, whenever a mutation is identified in a proband, Strand develops a customized, specific test, known as a Mutation-Specific Test (MST), to detect the same mutation in the DNA from relatives of the proband. This test therefore extends the benefits of the Strand Germline Cancer test to other blood relatives of the proband.

Coming back to the Patole story, one-by-one, 25 members from his family had themselves tested to understand whether they have the same BRCA2 mutation or not. Much to their relief, only three of them have tested ‘positive’ for the mutation. Five of Mr. Patole’s nieces and nephews are doctors and they have had themselves tested, even though they were highly confident that they do not actually have cancer!

Mr. Patole’s son and another niece also have the same mutation in their genomes. Now, they do NOT have cancer, but they have very definite proof that they are at high risk of cancer. The pre-emptive test has now allowed them to take control of their health. They have increased the frequency of medical check-ups and have made changes to their lifestyles to manage their risk of cancer.

An added advantage for Mr. Patole’s niece is that she can plan her family, bear kids and then undergo risk-reduction salpingo-ophoorectomy (removal of ovaries and fallopian tubes) in order to reduce her risk for breast cancer, considerably.

So, the awareness brought about by the MST test is going to actually help her keep an eye out for and possibly even, avoid cancer, altogether!

This case will soon be up on our website and you can access the entire document, in complete details.

Another case is that of Mr. Sohanlal Shah* who was diagnosed with colorectal cancer. He also took the Strand Germline Cancer test and a mutation in the MLH1 gene was identified in his DNA. Following his lead, his sons, siblings, cousins and their children also took advantage of an MST and had themselves tested. As with the earlier case, two people turned out to be positive for the hereditary MLH1 mutation and because they were now forewarned, they have been taking good care of their health. With regular colonoscopies as well as a lookout for other symptoms of colorectal cancer, they are now in control of their lives, not cancer.

As with the other case, Mr. Shah’s case document will be published on the Strand website, shortly.

Interestingly, another cousin of Mr. Shah has recently been diagnosed with colorectal cancer and his status, as a carrier of the same MLH1 mutation, is being established, using the same MST based on Mr. Shah’s genetic test. This patient has also exhorted his branch of the family to undergo pre-emptive testing.

It’s laudable, how, in both cases the probands have decided to spread the word and make sure that their extended families remain vigilant against hereditary cancer.

 

*- We understand a patient’s need for privacy and we are completely on board with these sentiments. Therefore, we use fake names, aka aliases, for all our patients, in all our communications. Nonetheless, these are true stories of people, living with cancer.

AUTHOR

Shefali Sabharanjak

All stories by: Shefali Sabharanjak