Showing posts with label mutations. Show all posts
Showing posts with label mutations. Show all posts

Sunday, November 3, 2019

Help possible for some breast, prostate diseases

Common dietary supplement might be the remedy for a rare genetic mutation that can lead to cancer


Although a rare genetic mutation leads to cancer, a fix may already be available.

According to a recent story by Gina Kolata in The New York Times, "a common dietary supplement may help overcome mutations in the Pten gene."

The real question, the Times asks, is, "Should patients take it?"

And the paper's answer, based on medical personnel that were interviewed, is a qualified yes.

Kolata's article says that the mutation "markedly raises the risk for several cancers, including prostate and breast cancer…as well as autism and schizophrenia in some individuals."

The lifetime risk in carriers, it indicates, is an astoundingly high 85 percent.

In theory, those at risk could help themselves by eating brussels sprouts, broccoli or other cruciferous veggies. The problem is, Kolata reports, to get enough to be of real use, "they'd have to eat a lot: six pounds of brussels sprouts a day — raw."

Instead, a healing compound "is widely available as a dietary supplement" found in local drugstores.

Experts, Kolata adds, "are debating whether to embark on a clinical trial with it."

The Times specifically cites a study published in the journal Science in which "researchers found evidence that a compound called indole-3-cabinol (i3c) blocks an enzyme that inhibits the activity of Pten. With the gene more active, patients with the mutation may be better protected against cancer."

The study, Kolata notes, "was done only in mice and in human cancer cells grown  in petrie dishes."

She explains, further, that although the findings do apply to Pten gene activity, "there is little evidence for most of the other wild claims made for i3c by supplement makers."

Although inherited Pten mutations are rare, striking one in 200,000, the gene also spontaneously mutates in many tumors. "When that happens," the Times piece maintains, "the patient's prognosis is poor."

Dr. Mustafa Sahin
The article quotes Dr. Mustafa Sahin, an expert on the gene at Boston Children's Hospital (who wasn't involved in the work at Beth Israel Deaconess Medical Center in Boston that was the basis for the Journal report), called the research a "tour de force study" whose result was "a paradigm shift in the field [that is] very exciting in terms of its therapeutic implications."

The Times also quotes Dr. Pier Paolo Pandolfi, director of the center who's been trying to find a way to restore Pten activity for years and is the senior author of the paper, as saying about the findings: "We got lucky — or smart."

More information about mutations, especially the BRCA1 and BRCA2 gene, can be found in "Rollercoaster: How a man can survive his partner's breast cancer" a VitalityPress book that I, Woody Weingarten, aimed at male caregivers.

Saturday, August 19, 2017

Smaller studies can mean missed side effects

Pharmaceutical companies can't find patients for trials of experimental cancer drugs 


Dr. Peter Bach
Too few patients are available to cover all the clinical cancer drug trials being conducted.

That, at least, is the conclusion of a recent story by Gina Kolata in The New York Times.

Her article notes that the problem "is caused partly by companies hoping to rush profitable new cancer drugs to market, and partly by the nature of these therapies, which can be spectacularly effective but only in select patients."

There currently are more than 1,000 immunology trials underway, for example.

But Kolata says "immunotherapy trials have proliferated so quickly that major medical centers are declining to furnish patients to them. The Yale Cancer Center participates in fewer than 10 percent of [those] it is asked to join." 

The writer cites words of Dr. Peter Bach, director of the Center for Health Policy and Outcomes at Memorial Sloan Kettering Cancer Center: "I think there is a lot of exuberant rush to market. And we are squandering our most precious resource — patients."

Dr. Roy Herbst
She also quotes Dr. Roy Herbst, the Yale center's chief of medical oncology, to the effect that the companies sponsoring the trials aren't addressing new research questions but are merely "trying to get proprietary drugs approved."

Some companies are working on experimental drugs that attack and block mutations that tumors need to grow and thrive. The mutations sought by those targeted therapies, however, are extremely rare so pharmaceutical companies "may be forced to undertake a worldwide search for subjects that can last for years."

It took Pfizer three years, for example, "to locate 50 lung cancer patients who carried a rare aberration called ROS1, found in just 1 percent of patients."

Many new trials involve a limited number of patients, which can be risky.

Bach, according to Kolata, maintains that "the smaller the study and the shorter its duration, the more likely that what looks like an effect in a trial might simply be the result of chance" — which "leaves some of us evidence geeks wondering if it works."
Dr. Scott Ramsey

The writer also quotes Dr. Scott Ramsey, an oncologist at the Fred Hutchinson Cancer Research Center, that "in tiny studies, serious side effects can be missed."

Details of many clinical trials can be found in "Rollercoaster: How a man can survive his partner's breast cancer," a VitalityPress book I, Woody Weingarten, aimed at male caregivers.

Monday, August 14, 2017

Can 40 percent of cancers be prevented?

Vast majority of cancer-causing mutations due to random DNA errors, new study indicates


"Two-thirds of cancer mutations are due to random DNA copying errors, study says."

That's the bulk of a slightly scary headline at the top of a recent "To Your Health" section of The Washington Post website.

In a story by Laurie McKinley, the study — published in "Science" magazine — cancer-causing mutations occur when normal cells divide. 

Humans, according to the piece, "have trillions of cells, which are constantly regenerating by dividing and making new cells. But each time DNA is copied, the scientists said, an average of three random mistakes will occur. While most are harmless, a small number affect genes that will promote cancer."


Bert Vogelstein
The Post article indicates that two Johns Hopkins University researchers — Bert Vogelstein, a cancer geneticist, and Cristian Tomaetti, a mathematician — were able in their study to separate the randomness factor from the other main contributors to cancer: inherited genes and environmental factors such as smoking and obesity.

Cristian Tomasetti
Results, after analyzing  "genome sequencing and epidemiological data for 32 types of cancer," assigned the mutations thusly: 66 percent, DNA-replication mistakes; 29 percent, environmental factors; 5 percent, heredity.

Variations depended on what kind of cancer they were talking about. According to the story, for example, "random DNA-replication mistakes account for about 77 percent of critical mutations in pancreatic cancer, and virtually all childhood cancer."

But "more than two-thirds of the mutations in lung cancer were due to environmental factors, mostly smoking."

McGinley's piece noted that "the new research builds on a 2015 study that highlighted the role of 'bad luck' — random DNA errors — in developing cancer. That study drew vehement protests from some cancer physicians and researchers who worried it would encourage people to take a fatalistic approach to cancer rather than trying to reduce their cancer risk by maintaining a healthy weight, exercising regularly, eating a good diet and avoiding cigarettes."

The Hopkins researchers have claimed "their earlier work was widely misinterpreted," the article continued — and emphasized that the new study "was consistent with estimates that 40 percent of cancers can be prevented."

Vogelstein insisted said that "science needs to find better ways to detect cancer early, when there is a good chance of curing it."

According to the story, critics of the 2015 study "disliked the 'bad luck' explanation and complained that the study was limited to the United States and didn't include the most common cancers — breast and prostate."

Insights into cancer mutations — especially BRCA1 and BRCA2 genes — can be found in "Rollercoaster: How a man can survive his partner's breast cancer," a VitalityPress book I, Woody Weingarten, aimed at male caregivers.