Since early morning, members of his extended family had been gathering at ’s residence in Pune. Some of them had come from faraway places such as Kolhapur, Akole, Bhiwandi and Ghodegaon. The occasion was neither a wedding nor a funeral. As many as 25 members of the Gholap family had gathered to undergo a Germ Line Cancer Test, to identify if any of them were at the risk of hereditary breast and ovarian cancer (HBOC).
Ashok Gholap, 66, is the driving force behind this gathering, and a man who has dealt with breast cancer, pancreatic cancer, and recurrence of the disease in the lungs and abdomen. “On Monday, 25 family members gathered to undergo this test. The remaining eight members, who live in Solapur and Kalyan, will get it done at their respective cities,” said Gholap.
On why he arranged such an unique gathering, Gholap said he didn’t want his family members to suffer “like I have in the last seven years”. The retired finance manager from Jehangir Hospital, who has been detected as a carrier of the BRCA 2 gene (Breast cancer type 2 susceptibility protein), has been fighting multiple-organ cancer. Cancer is a stark, but present, reality in Gholap’s family. His sons, Abhijit and Parikshit, are at immediate risk of the disease. His younger sister, as well as her daughter, have breast cancer.
“We are six brothers and four sisters. Two brothers and one sister have died due to other causes … I have counted a total of 33 family members… who urgently need to undergo this genetic test, which can tell us whether they are at risk of cancer,” said Gholap.
Recalling his long and continuous battle with the disease, Gholap said, “I had retired in June 2010 and within three months, I was diagnosed with pancreatic cancer. The prognosis was so poor that doctors in Pune had given up hope…”.
For further treatment, he eventually went to Kolhapur, where he underwent an eight-hour-long surgery, performed by Dr Suraj Pawar. “I had barely recovered, when a tumour was detected in my right breast in 2011. It was removed… from 2011 to 2014, I tried to recuperate,” said Gholap.
“Somewhere along the line, I decided that as long as there was life, there was hope… and soon I joined Medipoint hospital as an administrator,” he said. Gholap suffered yet another setback when, in December 2015, doctors found a tumour in his left breast, which had to be removed immediately. Next year, he had to undergo yet another medical procedure, when doctors had to perform a procedure to remove excess fluid from his lungs.
“I had barely had a few months to recover, when a tumour was detected near my navel. I had already undergone 28 cycles of radiation and six cycles of chemotherapy. This year, again, I have undergone 12 cycles of chemotherapy,” said Gholap. On how they convinced all family members to undergo the test, Gholap’s son Abhijit said, “There was a great deal of anxiety among our relatives, but we needed to find out who was at the most risk for this type of cancer.”
“Some of our relatives were reluctant to undergo the test, but we have seen our father suffer a lot…,” added his brother Parikshit. “Even if there is a chance that we are carriers of this mutated gene, at least we will be on our guard and take immediate steps toward treatment,” says Dr Sangeeta Kumbhojkar, a paediatrician and Gholap’s niece.
Dr C B Koppiker, the oncosurgeon who has been treating Gholap, pointed out that there was some degree of awareness about the genetic risk of HBOC. “A few ‘risk reduction’ clinics have come up in the city, where patients with a family history of hereditary cancers are being encouraged to undergo preventive genetic testing,” said Koppiker.
“These genetic tests can reveal information, not only about the person being tested but also about his or her relatives,” explained Dr Santosh Dixit, clinical research scientist with the Prashanti Cancer Care Mission, which works towards the rehabilitation and support of cancer patients and their families. Prashanti has tied up with a Bengaluru-based firm for genetic profiling, said Dixit.
HBOC is most commonly caused by mutations in one of two genes – BRCA1 and BRCA2. These mutations increase the risk of breast, ovarian, pancreatic, prostate, melanoma and possibly other cancers, said Koppiker . It is estimated that the current risk for developing breast cancer in urban women is 1 in 22. Koppiker said India has the highest breast cancer incidence to mortality ratio, due to late stage diagnosis and poor treatment outcomes.
The oncology community is now actively integrating preventive genetic screening in their routine practice, said Dr Shona Nag, oncologist at Jehangir Hospital, who has set up a risk reduction clinic two years ago and conducted check-ups on 100 such patients. Nag, who made a presentation at the Indian Cancer Congress on November 9, said that GenePath had developed a low-cost targeted assay, covering these BRCA1/ BRCA2 genes. “We tested among 70 such positive germline samples and in 20 cases, these pathogenic variants were detected. We were able to change their treatment plan and provide preventive advice to them,” said Nag.
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