GENES, MUTATIONS AND CANCER: the BRCA gene and other stories

Every human has the BRCA1 and BRCA2 genes; they normally protect us from breast and ovarian cancer. A mutation in one of these genes means that protection is lost. Over time, this may mean cancers are more likely to develop. The risk is highest for breast cancer in women, but it is also higher than average for ovarian cancer, prostate cancer, breast cancer in men and pancreatic cancer. Some types of BRCA mutations are more common in particular ethnic groups, among them those from an Ashkenazi Jewish background – in other words, very many of us. In the belief that this was a topic that merited greater awareness, we invited an expert to explain about the BRCA gene mutations and how they could affect us.
In a comprehensive Zoom presentation, Dr Adam Rosenthal, PhD, FRCOG, a consultant gynaecologist at University College London Hospital and an acknowledged expert in the field of gynaecological pre-cancers and inherited (familial) gynaecological cancers, succeeded in explaining to us with enviable clarity how the BRCA gene mutations could affect us and what we should do about it, begging his audience to spread his vital message among all their family and friends.
He began by demonstrating how cancer mutations could be passed down through several generations, recommending that anyone with a family history of cancer should consult their doctor as soon as they become aware of a pattern. It was also essential to bear in mind, he insisted, that genetic mutations could be inherited from either side of the family: not just from one’s mother but from one’s father, too, and that such mutations could account for around 10 per cent of certain cancers—ovarian cancer, for instance. Illustrating his words with the aid of informative slides, Dr Rosenthal went on to identify different kinds of gene mutations; it was important to distinguish which particular one was in question, he said, as there was now a lot that could be done either in terms of prevention, improved treatment or other benefits. Other topics covered included risk factors—not everyone who inherits the gene mutation would necessarily get cancer—as well as the pros and cons of undergoing surgery.
Dr Rosenthal also discussed in some detail the merits of getting tested for the BRCA gene, pointing out that among those of Ashkenazi heritage, the pick-up of mutations through testing was virtually doubled in comparison with relying on family history of cancer alone. He also offered valuable advice on how to get one’s risk properly assessed and what to do if your GP proves unhelpful, and while he emphasised once again that a family history of cancer in those of Ashkenazi Jewish ethnicity did not need to be as strong as in the general public in order to warrant referral to NHS Clinical Genetics Services, he also put the case for and against resorting to private genetic testing services. Providing his listeners with much to think about, he went on to supply appropriate signposts on what to do next for those who required further answers.
To hear what he had to say, and to peruse his slides in detail, you can view a recording of the event here.