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Genetic Counselling of Families Makes A Difference

560 315 Shefali Sabharanjak

Genetic Counselling of Families Makes A Difference

An interesting case was referred to Strand Life Sciences, in 2016. A 52-year-old Maharashtrian lady, Suman (name changed to protect patient’s privacy) was diagnosed with ovarian cancer and was referred to a hospital in Mumbai. Suman was given chemotherapy as per established medical standards. Genetic analysis of Suman’s tumor tissue revealed that Suman had a pathogenic BRCA1 mutation.

At Strand Center, we follow a policy of conducting a complete follow-up of patients and their family members who test positive for BRCA1 mutations! In our research, we have found that people in India have a high risk of suffering from hereditary breast and ovarian cancer. Moreover, a lot of patients have mutations in BRCA1 and BRCA2 genes, two important genes that are responsible for a large number of cancers, including breast and ovarian cancer. We also know from our research that these genes can be passed on from parents- both mother and father- to children. So, whenever we come across a case of a BRCA1- positive patient, we take a look at the patient’s family tree to understand if this is a hereditary feature.

We followed up with Suman and checked whether other relatives in her family had also been diagnosed with cancer. As it turns out, Suman’s sister was diagnosed with ovarian cancer at the age of 50 years. Her diagnosis was done by another doctor (not the same one who treated Suman), a couple of years earlier. Additionally, Suman’s first cousin was diagnosed with breast cancer at the age of 48 years. A deeper enquiry revealed that the same cousin’s daughter had been diagnosed with ovarian cancer at the age of 38 years!

Clearly, here is a case of hereditary breast and ovarian cancer that had gone unnoticed because Suman’s sister, who developed ovarian cancer at the age of 50 years, was not advised genetic testing and genetic counselling!

As per international therapy guidelines, Suman’s younger sister should have been considered as an indicative case. Genetic counselling provided to the family, at the time of her cancer diagnosis might have helped to identify the presence of BRCA1 mutations in the other women in the family.

Suman is now aware of the health risks that She and her daughter face. Here is a chance, now to get her daughter tested for the presence of the same BRCA1 mutation as well as other mutations that cause breast and ovarian cancer. Since Suman’s daughter is married, she now has a chance to plan her children and thereafter opt for preventive (prophylactic) removal of breast tissue as well as ovaries and fallopian tubes if it is found that she is also BRCA1 positive.

Genetic counselling can help your family understand the risks of developing cancer, better. If you would like to know more about genetic counselling, please call our toll-free number 1800-1022-695, to schedule an appointment with our genetic counsellors.

AUTHOR

Shefali Sabharanjak

All stories by: Shefali Sabharanjak