The crooked mirror of life
How do Angelina Jolie's "genes" cause breast tumors?
Alpina Non-fiction has released the book "The Crooked Mirror of Life", where a molecular biologist analyzes modern ideas – and misconceptions – about cancer. TASS publishes an excerpt about hereditary breast cancer.
Cancer is a terrible thing in itself: treatment is usually difficult and expensive, the risk of dying is high, the probability of getting sick is also high (according to the calculations of Cancer Research UK, every second resident of the UK born after 1960 will sooner or later discover some form of cancer; hardly the United Kingdom in this regard what-that is a special country). Oncological diseases become even scarier because of the myths that surround them. Some people think that higher powers punish people with tumors, others are convinced that leukemia or melanoma are contagious, others are treated with folk remedies and lose precious time.
from the French Institute Curie decided, as she herself put it in the preface of her book "The Crooked Mirror of Life. The main myths about cancer, and what modern science thinks about them", to separate the wheat from the chaff and explain in popular language where cancer comes from and how to fight it. Each of the eight chapters is devoted to one myth (about proper nutrition, conspiracy of doctors, etc.), but there was room for a lot more in them, for example, for the story about Angelina Jolie, who agreed to preventive breast removal.
In 2013, the famous Hollywood actress Angelina Jolie had surgery to remove both mammary glands to avoid breast cancer, and later removed the ovaries. In the United States, this kind of manipulation has long been quite commonplace. In this case, I was surprised, perhaps, only by the willingness of the actress to speak publicly on such a difficult and frightening topic for most people. Angelina's frankness probably served as a great psychological support for those thousands of women around the world who every year find themselves facing the need to go under the knife. Breast cancer is the most common of malignant tumors. But, as a rule, the operation with such a diagnosis is used for treatment, not for the prevention of the disease. Why did a perfectly healthy young woman decide to undergo surgery?
To answer this question, we will have to go back to the distant 1940s, when, long before the advent of modern diagnostic methods, using exclusively the good old method of analyzing family trees, the English doctor and scientist David Smithers published studies of the family history of 450 patients with breast cancer and demonstrated that in some cases the disease is obviously inherited character and occurs in the female line of a particular family much more often than one would expect based on the average incidence rate in the country. At the same time, the disease developed on average in women at an earlier age (up to 50 years), had an aggressive course and was poorly treatable.
This observation was later confirmed by other researchers, but only in the 1980s scientists were able to identify a gene, more precisely, two genes - BRCA1 and BRCA2, mutations in which were responsible for the development of this type of disease. The abbreviation of these genes BRCA literally stands for breast cancer (Breast Cancer).
In 2013, the famous Hollywood actress Angelina Jolie had surgery to remove both mammary glands to avoid breast cancer, and later removed the ovaries. In the United States, this kind of manipulation has long been quite commonplace. In this case, I was surprised, perhaps, only by the willingness of the actress to speak publicly on such a difficult and frightening topic for most people. Angelina's frankness probably served as a great psychological support for those thousands of women around the world who every year find themselves facing the need to go under the knife. Breast cancer is the most common of malignant tumors. But, as a rule, the operation with such a diagnosis is used for treatment, not for the prevention of the disease. Why did a perfectly healthy young woman decide to undergo surgery?
To answer this question, we will have to go back to the distant 1940s, when, long before the advent of modern diagnostic methods, using exclusively the good old method of analyzing family trees, the English doctor and scientist David Smithers published studies of the family history of 450 patients with breast cancer and demonstrated that in some cases the disease is obviously inherited character and occurs in the female line of a particular family much more often than one would expect based on the average incidence rate in the country. At the same time, the disease developed on average in women at an earlier age (up to 50 years), had an aggressive course and was poorly treatable.
This observation was later confirmed by other researchers, but only in the 1980s scientists were able to identify a gene, more precisely, two genes - BRCA1 and BRCA2, mutations in which were responsible for the development of this type of disease. The abbreviation of these genes BRCA literally stands for breast cancer (Breast Cancer).
New possibilities of molecular diagnostics of patients and their relatives have made clarifications in Smithers' statistics. It turned out that the damaged BRCA1 and BRCA2 genes contribute to the development of cancer not only of the breast, but also of the ovaries, and the risk of getting sick in carriers of broken genes can reach 80%. That is why in some countries (especially in the USA), patients with defects in BRCA genes and poor maternal cancer heredity, if they have already given birth to the desired number of children, doctors advise to completely remove ovarian and breast tissue. In other countries, they profess a less radical approach, limiting themselves to more frequent and in-depth testing of carriers of faulty genes in order to catch the disease at the earliest stage. In any case, a woman who has discovered a similar genetic defect faces a difficult choice.
It is hoped that with the advent of a new class of drugs, PARP-inhibitors, this particular form of cancer will be able, at least in part, to curb. Although mutations in the BRCA genes are more threatening to women's health, for men, such genetic disorders also do not go unnoticed. Men who carry defective genes have an increased likelihood of prostate cancer and male breast cancer (yes, this also occurs). Therefore, representatives of the stronger sex from families in which there are cases of hereditary breast cancer (in the female line), it will not hurt to do an analysis for the presence of mutations in the BRCA genes.
Fact: the presence of a mutation in the BRCA genes greatly increases the likelihood of breast and ovarian cancer in women. If there are cases of such cancer in the female line in the family, it is necessary to do a genetic analysis and, if a mutation is detected, monitor your health more closely. The BRCA mutation is not a verdict, but an aggravating circumstance.
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