A group of Abu Dhabi cancer specialists has found multiple cancer-causing mutations in a blood test of a young offspring, unlocking a family’s secret cancer risk in the process.
The case, reported by the doctors at Cleveland Clinic Abu Dhabi, UAE was among the most unusual they have seen as it was found that both parents had genetic mutations for cancer. Two additional tests revealed at least three healthy relatives who were unknowing carriers of the inherited mutations, and one daughter who carries both altered genes, raising her chances of contracting several hereditary cancers.
Discovery Started With Breast Cancer Case
Because of a family history of colon and uterine cancer, a woman who had been diagnosed with breast cancer opted for a 47-gene cancer panel test.
Researchers spotted an MLH1 DNA mutation, associated with Lynch syndrome, which is a familial syndrome linked to lymphomas (cancers of the lymphocytes) and endometrial cancer.
Her daughter was later tested for blood, and doctors thought they would find the same blood mutation. However the findings revealed a mutation on the BRCA1 gene, which is typically linked with hereditary breast cancers and ovarian cancers.
Once a woman is diagnosed with the disease, further testing will be conducted on the father with the result being another woman could be confirmed as carrying the BRCA1 mutation.
Experts Call Findings Remarkable
“This was pretty unexpected even for us,” said cabin certified genetic counsellor Rifaat Rawashdeh, commenting on the find, which is one of the most interesting cases encountered by the hereditary high-risk programme at the hospital.
The case highlights how more and more times genetic screening is needed to identify people in advance who might be at a higher risk of developing cancer, experts said.
Genetic Screening Helps Early Prevention
For instance, a healthy man in his 40s who had no cancer diagnosis was tested due to family history. He was diagnosed with an MLH1 mutation, which could increase his risk of colon cancer as high as 60 per cent for the rest of his life.
Add genetic counsellor Lea Abed, who’s talking about a fundamental element of our practice, prevention. Through screening, patients can be identified and receive enhanced monitoring and preventive care well before disease occurs.
Younger Patients Also Being Diagnosed
Experts also noted the younger age of their patients when they were first diagnosed with inherited cancers.
A woman in her early 20s was diagnosed with bilateral breast cancer, an event that sticks in his memory. A later genetic test was conducted which confirmed that there was a mutation in the gene TP53 found, which is associated with the rare Li-Fraumeni syndrome, which places a person at a high risk of developing several cancers in his or her lifetime.
Shift Towards Precision Medicine
The clinic’s hereditary high-risk programme states that 5-10% of common cancers, such as breast, ovarian, colon, pancreatic, uterine and prostate cancer may be caused by a genetic mutation.
The treatment of cancer is beginning to change, moving to more of a precision medicine approach with genetic testing and an attempt to predict cancer risk before the onset of the disease, doctors said. Individual patients with high-risk mutations may be offered individually tailored screening programs, prevention drugs, lifestyle advice or prevention surgeries.
More young adults with good family histories are also now opting for genetic testing to minimise the risk of future generations by undergoing IVF and preimplantation genetic testing, experts said.
