Siddhartha Mukherjee has a written a biography of the gene as deft, brilliant, and illuminating as his extraordinarily successful biography of cancer. Weaving science, social history, and personal narrative to tell us the story of one of the most important conceptual breakthroughs of modern times, Mukherjee animates the quest to understand human heredity and its surprising influence on our lives, personalities, identities, fates, and choices.
This book filled in a number of gaps in my knowledge, plus it is engaging to read. Overall it confirmed my impression of major advances in the science, but not matched by many medical products for general use.
This is on the must-read list this summer. Somehow. When I get a second.
Oh, this sounds fantastic: PBS is set to air a six-hour documentary series, Cancer: The Emperor of All Maladies, starting at the end of March. How have I not heard about this before today?
This “biography” of cancer covers its first documented appearances thousands of years ago through the epic battles in the 20th century to cure, control and conquer it, to a radical new understanding of its essence. The series also features the current status of cancer knowledge and treatment — the dawn of an era in which cancer may become a chronic or curable illness rather than its historic death sentence in some forms.
The series is based on Siddhartha Mukherjee’s The Emperor of All Maladies: A Biography of Cancer, which is one of the most interesting books I’ve read in the past few years. Ken Burns is executive producing and Barak Goodman is directing.
Thanks to Sarah Klein at Redglass Pictures for letting me know about this. Redglass created a pair of videos for the series featuring Terrence Howard and Ken Jeong talking about their experiences with cancer.
The streetlights in Buenos Aires are considerably dimmer than they are in New York, one of the many things I learned during my family’s six-month stay in Argentina. The front windshield of the rental car, aged and covered in the city’s grime, further obscured what little light came through. When we stopped at the first red light after leaving the hospital, I broke two of my most important marital promises. I started acting like my wife’s doctor, and I lied to her.
I had just taken the PET scan, the diagnostic X-ray test, out of its manila envelope. Raising the films up even to the low light overhead was enough for me to see what was happening inside her body. But when we drove on, I said, “I can’t tell; I can’t get my orientation. We have to wait to hear from your oncologist back home.” I’m a lung doctor, not an expert in these films, I feigned. But I had seen in an instant that the cancer had spread.
The last sentence here really got to me:
Our life together was gone, and carrying on without her was exactly that, without her. I was reminded of our friend Liz’s insight after she lost her husband to melanoma. She told me she had plenty of people to do things with, but nobody to do nothing with.
Bach’s discussion of treatment options reminded me of Siddhartha Mukherjee’s The Emperor of All Maladies, which is one of my favorite books of recent years. I was also reminded of how doctors die.
In this morning’s NY Times, Angelina Jolie writes about her decision to have a preventive double mastectomy to hopefully ward off cancer.
My mother fought cancer for almost a decade and died at 56. She held out long enough to meet the first of her grandchildren and to hold them in her arms. But my other children will never have the chance to know her and experience how loving and gracious she was.
We often speak of “Mommy’s mommy,” and I find myself trying to explain the illness that took her away from us. They have asked if the same could happen to me. I have always told them not to worry, but the truth is I carry a “faulty” gene, BRCA1, which sharply increases my risk of developing breast cancer and ovarian cancer.
It happens that just last night I read about the BRCA-1 gene in Siddhartha Mukhergee’s excellent biography of cancer, The Emperor of All Maladies. This part is right near the end of the book:
Like cancer prevention, cancer screening will also be reinvigorated by the molecular understanding of cancer. Indeed, it has already been. The discovery of the BRCA genes for breast cancer epitomizes the integration of cancer screening and cancer genetics. In the mid-1990s, building on the prior decade’s advances, researchers isolated two related genes, BRCA-1 and BRCA-2, that vastly increase the risk of developing breast cancer. A woman with an inherited mutation in BRCA-1 has a 50 to 80 percent chance of developing breast cancer in her lifetime (the gene also increases the risk for ovarian cancer), about three to five times the normal risk. Today, testing for this gene mutation has been integrated into prevention efforts. Women found positive for a mutation in the two genes are screened more intensively using more sensitive imaging techniques such as breast MRI. Women with BRCA mutations might choose to take the drug tamoxifen to prevent breast cancer, a strategy shown effective in clinical trials. Or, perhaps most radically, women with BRCA mutations might choose a prophylactic mastectomy of both breasts and ovaries before cancer develops, another strategy that dramatically decreases the chances of developing breast cancer.
Radical is an understatement…what a tough and brave decision to make. Again from the book, I liked this woman’s take on it:
An Israeli woman with a BRCA-1 mutation who chose this strategy after developing cancer in one breast told me that at least part of her choice was symbolic. “I am rejecting cancer from my body,” she said. “My breasts had become no more to me than a site for my cancer. They were of no more use to me. They harmed my body, my survival. I went to the surgeon and asked him to remove them.”
Five to 10 percent of breast cancers occur in women with a genetic predisposition for the disease, usually due to mutations in either the BRCA1 or BRCA2 genes. These mutations greatly increase not only the risk for breast cancer in women, but also the risk for ovarian cancer in women as well as prostate and breast cancer among men. Hundreds of cancer-associated BRCA1 and BRCA2 mutations have been documented, but three specific BRCA mutations are worthy of note because they are responsible for a substantial fraction of hereditary breast cancers and ovarian cancers among women with Ashkenazi Jewish ancestry. The three mutations have also been found in individuals not known to have Ashkenazi Jewish ancestry, but such cases are rare.
Update: Two things. First, and I hope this isn’t actually necessary because you are all intelligent people who can read things and make up your own minds, but let me just state for the official record that you should never never never never NEVER take medical advice, inferred or otherwise, from celebrities or bloggers. Come on, seriously. If you’re concerned, go see a doctor.
Two: I have no idea what the $99 23andme test covers with regard to BRCA1 and BRCA2 gene mutations beyond what the company states. The most comprehensive test for BRCA1 and BRCA2 mutations was developed by a company called Myriad Genetics and costs about $3000. Myriad has patented the genes, a decision that has been sharply criticized and is currently being decided by the Supreme Court.
But many doctors, patients and scientists aren’t happy with the situation.
Some are offended by the very notion that a private company can own a patent based on a gene that was invented not by researchers in a lab but by Mother Nature. Every single cell in every single person has copies of the BRCA1 and BRCA2 genes.
Myriad officials say they deserves the patent because they invested a great deal of money to figure out the sequence and develop “synthetic molecules” based on that sequence that can be used to test the variants in a patient.
“We think it is right for a company to be able to own its discoveries, earn back its investment, and make a reasonable profit,” the company wrote on its blog.
I do know the 23andme test covers something related to the BRCA1 and BRCA2 mutations…a friend of a friend did the 23andme test, tested positive for the BRCA1 mutation, and decided to have a preventive double mastectomy after consulting her doctor and further tests. (thx, mark, allison, and ★spavis)
I’m currently reading The Emperor of All Maladies: A Biography of Cancer (which is excellent) and I’m up to the chapters on prevention, specifically the prevention of lung cancer through reduction of cigarette smoking. I had no idea cigarette smoking was so uncommon in the US as recently as 1870…but we caught up quickly.
In 1870, the per capita consumption in America was less than one cigarette per year. A mere thirty years later, Americans were consuming 3.5 billion cigarettes and 6 billion cigars every year. By 1953, the average annual consumption of cigarettes had reached thirty-five hundred per person. On average, an adult American smoked ten cigarettes every day, an average Englishman twelve, and a Scotsman nearly twenty.
For some context on that 3500/yr per person number (and the unbelievable 7000/yr Scottish rate), the current rate in the US is around 1000/yr and the highest current rate in the world is in Serbia at almost 2900/yr per person.
Stay Connected