“Every woman who had ovarian or breast cancer with the BRCA1 and BRCA2 mutation, and was detected after her diagnosis, is a missed opportunity to prevent a cancer. No sister or daughter of a person with such a mutation should die of breast or ovarian cancer, it doesn’t have to happen; it is completely preventable,” Mary-Claire King, Professor of Genome Sciences at the University of Washington, said here on Monday. In a sense, it all began with Prof. King after she identified the mutation in the BRCA1 gene that causes breast cancer.
Genetic testing is crucial for prevention, treatment, and families, Prof. King underlined throughout her lecture on “Understanding Inherited Breast and Ovarian Cancer: From Gene Discovery to Precision Medicine and Public Health.” Prof. King was in Chennai for the first Cell Press-TNQ India distinguished Lectureship Series, 2017. She will be speaking in three other cities: Bengaluru on Wednesday, New Delhi on Friday, and Kolkata, the following Tuesday.
Prof. King also had a proposition for India — to undertake to test genetically every breast and ovarian cancer patient for the BRCA1 and BRCA2 and all other known breast and ovarian cancer genes. “The yield in testing of patients will probably be 18 per cent of ovarian cancer patients who have a mutation in one of these genes and about 10-15 per cent of breast cancer patients who do, with a higher proportion of younger women.”
Informed choice
She went on to add that it was important because a patient who finds that she has a mutation can decide whether to remove her ovaries and fallopian tubes in her late 30s or 40s so that she does not get breast cancer; that her sisters and daughters can be aware that they should undergo genetic testing ideally. If they are resistant to that, then they can be subject to surveillance, at least. The sister or daughter of a patient with such mutations has a 50-50 chance of acquiring a mutation herself, the geneticist said.
The costs for such testing have come down drastically, Prof. King said. “The cost is much less, even lower than it was a year ago. For instance, in the [United] States, in Indian terms, it costs about Rs. 15,000 to test all the genes all at once. It used to be 20 times that just a couple of years ago.” She also touched upon the new Broca Gene Panel available now, that runs a single blood sample through tests for all known classes of mutation that cause breast and ovarian cancer.
Prof. King came back many times during her lecture to the role of menarche in breast cancer. When menarche occurs at a younger age, good epidemiological evidence suggests that the interval between menarche and child birth has a direct relationship with the risk of breast cancer. As the interval increases, the risk also increases, she explained.
Generational change
One study showed that women born before 1958, have, a lower risk of developing breast or ovarian cancer, than say, women born after 1958. “This cannot be genetics. This difference is, I think, the same reasons that we see a rapid increase in incidence of breast cancer. Between these generations, there was change in women’s lives.”
Of course, plenty of women who do not carry the mutation, have the disease too. Some of the women actually have inherited the mutation from the father and not the mother. Their decision to go in for prophylactic surgeries — removal of the ovaries and fallopian tubes, and/or double mastectomies — depends on their personal experience. Most women who go in for surgery have watched a mother or sister die of breast or ovarian cancer, Prof. King explained.
N. Ram, chairman, Kasturi and Sons, introduced the speaker, while Mariam Ram, MD, TNQ Books and Journals, spoke of the lecture series through the years.
Emilie Marcus, CEO, Cell Press, announced the names of the finalists of the Inspiring Science awards: Balaji Banoth, Vijay Soni, Richa Pahuja, Abhishek Trivedi, Pankaj Kumar Dubey, and Ramya Purkanti.
