Showing posts with label BRCA1. Show all posts
Showing posts with label BRCA1. 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.