Genetic tests now accurately predict which breast cancer cases are most likely to benefit from oestrogen-lowering drugs and which don’t
This means many women can get breast-conserving surgery rather than full mastectomy, depending on their genetic markers
Indian genetic markers have shown that 30 per cent of breast or ovarian cancer cases are hereditary. That’s thrice the prevalence in the West.
In Indians, most breast cancers are caused by faults in BRCA1 gene, while in the West, it is equally caused by markers both in BRCA1 and BRCA2 (These genes are present in every body)
This has resulted in more targeted treatment
Early results have also shown that certain ethnicities, rather than inheritance alone, like that of Konkani, Gujarati and Maharashtrian women, are more prone
It’s now possible to tell which women need not undergo radiotherapy after mastectomy
Myeloid Leukaemia: The Gleevec Example
In 2001, the discovery of imatinib mesylate (Gleevec) was a breakthrough for myeloid leukaemia
It silences a protein called BCR-ABL that causes this type of leukaemia
BCR-ABL results from an abnormal gene due to merger of chromosomes 9 and 22
Before this drug was discovered, only one in three patients survived beyond five years post diagnosis. Gleevec improved survival rates to 90 per cent.
Genetic tests to locate BCR-ABL can be done in India now
Lung Cancer
Crizotinib (Pfizer discovery, sold as Xalkori) effectively tames lung cancer caused by a rogue copy of ALK gene
Tests in India can now identify ALK
Melanoma
Roche’s vemurafenib (sold as Zelboraf) pinpointedly attacks a rogue protein released by a mutated form of BRAF gene, which instructs skin cells to replicate endlessly
BRAF test is available in India
Liquid Biopsy
Since the sample is blood, it’s called liquid biopsy.
Helps targeted therapy in breast, colorectal and bladder cancer
Why Hereditary Testing
Current generalised screening approaches may not completely capture the risk for hereditary cancers