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

Tuesday, September 19, 2023

Hereditary cancers are problem for males as well as for females, says head of genetic risk program

Breast cancer is not just a female problem. It strikes 2,500 men in the United States every year and kills about 500 of them.

Dr. Robert Sidlow
Those statistics come from Dr. Robert Sidlow, director of the Male BRCA Genetic Risk Program at New York's Memorial Sloan Kettering Cancer Center, in a recent Jewish Telegraphic Agency story by Larry Luxner.

Ashkenazi Jews, those of Eastern European descent, are particularly susceptible to the perils caused by a BRCA mutation that elevates the risk to men "not only of breast cancer, but also of melanoma and prostate, ovarian and pancreatic cancer," the article says.

Hundreds "of other mutations in the BRCA gene are just as dangerous, but they're not specific to Ashkenazim," Sidlow is quoted as saying.

The story notes that about "1 in 40 Ashkenazi Jews… carries the harmful mutation, compared to about 1 in 400 in the general population."

Roughly 1-2% of men "with the BRCA1 mutation and 6-7% of men with the BRCA2 mutation will develop cancer by age 80," Sidlow contends.

Luxner's piece also quotes Elana Silver, CEO of Sharsheret (Hebrew for "chain"), to the effect that "it's crucial that men with a family history of cancer undergo genetic counseling screening — via a standard blood or saliva sample — for BRCA and other hereditary cancer mutations."

Adds Silver, "This is not only a women's issue. Family history is so important. When a man shares his family history with his doctor, he may not realize that he should mention that his mother had breast cancer or his sister had ovarian cancer, as these are not general 'men's diseases.' They are not aware that these cancers could mean that they themselves are at increased risk for cancer and that they can pass on these mutations to the next generation."

Sidlow notes that "most men are pretty happy to enroll income kind of surveillance program once they get over the initial shock" of being a mutation carrier.

Luxner's story indicates that there are various precautions they can take for themselves and their children where the BRCA gene is concerned — as well as such mutations as ATM, TP53, CHEK2, and PALB2. They can "monitor their own health more closely, they can encourage their children to test to see if they are carriers and, for any future children, to take steps to prevent the mutated genes from being passed down. For example, couples can conceive via in vitro fertilization, or IVF, and then test the embryo before implantation to ensure that only those unaffected by the genetic mutation are implanted."

Much more information on BRCA1 an BRCA2 can be found in Rollercoaster: How a man can survive his partner's breast cancer, a VitalityPress book that I, Woody Weingarten, its author, aimed at male caregivers.

Friday, November 19, 2021

Unnoticed breast cancer gene found to be almost as perilous as better known ones such as BRCA

Mutations of PALB2 can raise a woman's risk of breast cancer nearly as much as better known mutations like BRCA. 

According to a recent story by Susan Berger in The New York Times, doctors "are increasingly recomending that anyone who was tested before 2014 go through genetic testing again" — to look for the PALB2 gene, which also raises a patient"s chances of contracting ovarian and pancreatic cancer.
Dr. Peter Hulick

The Times article quotes Dr. Peter Hulick, medical director of the Mark R. Neaman Center for Personalized Medicine at NorthShore University HealthSystem in Evanston, Ill., as saying that "raising awareness with physicians and patients is critical, otherwise patients are getting an incomplete genetic assessment." 

Earlier this year, the American College of Medical Genetics and Gonomics advised that "women with PALB2 mutations be surveilled similarly to patients with BRCA mutations, and that, depending on family history, mastectomies could be an option to reduce the risk in some patients," Berger's piece reports. 

The Times article further notes that guidelines from the National Comprehensive Cancert Network, as well as the genetics organization,"suggest women with the PALB2 mutation should have breast MRIs and mammograms, alternating every six months." The guidance was based on peer-reviewed evidence by a global team of experts in cancer genetics.

Hulick also said, according to the story, that "the risk of developing breast cancer was 40 to 60 percent greater among women with the PALB2 mutation, similar to the risk from BRCA." 

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

Saturday, December 17, 2016

BRCA1 tests increase but results are questioned

Did Angelina Jolie op-ed in N.Y. Times help women find breast cancer gene mutations?


Angelina Jolie
Although celebrities can spur women to gather information about breast cancer, the question remains how valuable resultant data will turn out to be.

Angelina Jolie is a case in point.

According to a story by Carolyn Y. Johnson this week in The Washington Post, a new study published in the British Medical Journal has indicated that additional thousands of women in the United States were tested for breast cancer gene mutations right after the actress went public about her decision to get a double mastectomy.

Her choice was based on the fact that she had BRCA1, one of the mutations that increases chances of developing breast and ovarian cancers.

The Post piece noted that "testing rates increased 64 percent in the three weeks after Jolie's [op-ed in The New York Times went viral in 2013].

But that stat, based on research at Harvard Medical School, also showed it cost about $13.5 million to do the additional 4,500 genetic tests.

Unfortunately, researchers concluded, "mastectomy rates among women who had a genetic test actually declined after the [New York Times] piece was published, suggesting the women who got the tests done weren't as likely to have the mutation."

More information about the 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.

Tuesday, July 19, 2016

DNA mutations plus sun damage equals trouble

Genes linked to red hair and pale skin increase your risk of melanoma, a new study says


News reports, I've found, sometimes merely confirm what conventional and folk wisdom have known forever.

Case in point — the recent UPI story (based on one in HealthDay News) that carried the headline "Genes tied to red hair, pale skin greatly raise melanoma risk."

I could have told you that. 

Because I've been living for a long time with a woman with red hair and pale skin and freckles.
Nancy Fox — and her long red hair.

My wife, Nancy Fox, successfully had a melanoma on her arm removed — after she'd conquered breast cancer. And neither of us can count how many pre-cancerous growths she's had dermatologists cut out, burn off or otherwise remove.

But what I hadn't realize was that, at least according to the story, having the troublesome gene mutation — known as MC1R— "is roughly equivalent to the person spending an extra 21 years in the sun."

The British study, which examined more than 400 people and whose findings were published in Nature Communications, determined that "there were 42 percent more mutations linked to sun damage in the tumors of those carrying the red hair gene variant than in those without that DNA."

It showed, moreover, that "skin cancer isn't just about being more vulnerable to the sun's harmful UV rays. Carrying the MC1R gene variant raises the number of mutations triggered by sun exposure, the researchers explained, but it also raises the level of non-sun-linked mutations within tumors."

I, not incidentally, based my VitalityPress book, "Rollercoaster: How a man can survive his partner's breast cancer," which is aimed at male caregivers, on my wife's courage in battling her cancers. 

Unfortunately, what she's still faced with — constantly — is having doctors take off pre-cancerous growths from her face, arms and other body parts. All because she has red hair and pale skin and didn't protect herself from the sun when she was young.

Monday, May 16, 2016

Gene mutation may portend four times the risk

Men worry about defective breast cancer genes as possible clue to deadly prostate cancer


Holy cow, it wasn't enough that I worried about women I know having BRCA1 and 2 mutant genes that portend breast and ovarian cancers.

Now I'm worrying about the guys, too.

Seems that, according to a recent article in The Washington Post by Laurie McGinley, men (like me) are becoming more aware that the defective genes — "the kind that prompted actress Angelina Jolie to have her breasts and ovaries removed preemptively," the story notes — have also been linked to aggressive, potentially deadly prostate cancer.

McKinley writes that "men with these mutations are more likely than non-carriers to contract aggressive, lethal prostate cancer, to be diagnosed at a more advanced stage and to ultimately die of the disease, researchers say."

A study recently presented to a meeting of  the American Urological Association found 17 percent of patients with BRCA2 "already had advanced [prostate] disease, four times the rate of patients without the mutation," the article states. 
Dr. Bruce Montgomery

McKinley's story quotes Dr. Bruce Montgomery, an oncologist at the Seattle Cancer Care Alliance-University of Washington Medical Center as saying, "The problem is, everyone associates this with women and their cancers. In men's minds, BRCA is about breast cancer, so they don't see it as relevant."

The implication, of course, is that they're wrong. It is not only relevant, knowledge about the mutation is a crucial part of a health-education learning curve.

Although "an estimated 12 percent of women will develop breast cancer during their lifetimes, according to the National Cancer Institute," McKinley's story says, "that proportion rises to as high as 65 percent of women who inherit a BRCA1 mutation and about 45 percent for those with a BRCA2 defect."

Men with the BRCA mutation also are at a higher risk of getting breast cancer. Currently, more than 2,000 American males contract that disease each year.

To learn even more about the BRCA defects, check out "Rollercoaster: How a man can survive his partner's breast cancer," the VitalityPress book I, Woody Weingarten, aimed at male caregivers.

Thursday, May 5, 2016

Doctor warns of hidden facts, bad memory

Not really knowing your family medical history can cause you cancer woes, oncologist says 


Heredity and cancer are inexorably linked.

Even if you prefer denial.


Theodora Ross
Knowing your family history could save your life, according to a recent story by Theodora Ross, an oncologist at the University of Texas Southwestern Medical Center, in the Washington Post.

Hidden facts can be destructive, Ross indicates, pointing to one of her young patients who joked about her Irish heritage but discovered, through testing for breast cancer gene mutations, that she carried an Ashkenazi Jewish mutation that could spell trouble.

It was learned that her French Jewish family, apparently fearing anti-Semitism during World War II, had converted to Catholicism and made Ireland their home.

Ross, author of "A Cancer in the Family: Take Control of Your Genetic Inheritance," points out in her article that "many illnesses…are at least partly hereditary. One recent study found that 33 percent of cancer diagnoses can be explained by genes."

She also notes that "only one-third of Americans have ever tried to collect their family medical histories from relatives" and that part of the problem "is the fault of the medical profession…physicians [may] devote just three minutes to asking family-history questions during a patient's first visit."

Another difficulty is that many "relatives might never have revealed that they were sick, particularly if they struggled with a disease that carries a stigma." 

For example, she adds, "according to one study, 58 percent of psychiatrists said they wouldn't tell family and friends if they suffered from a mental illness."

Fear, ostracism and shame certainly can become obstacles to the truth.

Ross also cites patients who interpreted histories incorrectly, including one who "denied that he had a family history of cancer because, he said, nobody had died. Another suggested that her sister's breast cancer at age 38 was due to her divorce. One even told me her father had only 'a touch of melanoma.'"

In addition, language can be a barrier to understanding.

"It wasn't so long ago that tuberculosis was known as 'consumption' and epilepsy was 'falling sickness," Ross writes. "Strokes were 'apoplexy,' and 'bad blood' was code for syphilis."

Memory, too, can be faulty. Ross says that rather than factual it can be "a construction of what we think happened. Lung cancer may have, in fact, been colon cancer; ovarian cancer perhaps was cervical cancer."

Research into your family history, Ross indicates, is definitely worth the time invested. And The Centers for Disease Control and Prevention can be of assistance. So can the National Institutes of Health. 

Both have online guides that might help you get started.

To learn about the links between heredity and breast cancer, particularly BRCA1 and BRCA2 gene mutations, you also could check out "Rollercoaster: How a man can survive his partner's breast cancer," a VitalityPress book I, Woody Weingarten, aimed at male caregivers.