Hi
yoram,
After
reading the info re factor XI deficiency info, I was hoping you could share the
info below as well. BRCA mutations are another relatively common hereditary genetic
disorder in ashkenazi Jews. (1 in 40). The attached article explains it.
Thanks. See you at the next meeting.
Elizabeth
Etkin-Kramer, M.D., F.A.C.O.G.
Please Join
us for:
What’s
Jewish about Breast, Ovarian….
and
Other Cancers? (…not for women only!)
≁
Mutations in
the BRCA 1 and 2 genes are associated
with a
marked increase in breast and ovarian cancer as well as other
cancers.
Three
specific mutations in the BRCA genes, called founder mutations, are more
common in Ashkenazi Jewish men and women. One in 40 Ashkenazi Jews, both men
and women, are carriers of a founder mutation regardless of family
history, and most people are not aware they are carriers! In these
high risk individuals, there are specific guidelines to help prevent breast and
ovarian cancer as well as enhanced screening protocols to increase diagnosis at
an early, more treatable stage. Come learn more about these and other
Jewish genetic mutations associated with a high risk of developing cancer. You
can participate in low cost genetic testing through a saliva specimen at
the same time!!!
Sunday,
March 19, 2017 at 1 pm
Temple Beth
Sholom
4144 Chase
Avenue, Miami Beach, Florida
≁
Please RSVP
at didyouknow.ash@gmail.com
Genetic
testing done through Color Genomics
Presentation
by Liz Etkin-Kramer, M.D.,F.A.C.O.G.
Genetic
Counselor will also be available to answer questions
For
additional information, please see attached.
Did you know???
1 in 40 Ashkenazi Jews have a BRCA
mutation, regardless of family history----and most don’t know!
What does this mean????
A Little Bit of Genetics: BRCA 1 and BRCA 2 are genes that, when
working normally, are tumor suppressor genes, meaning they prevent cancer. When
there is a mutation in these genes they can’t work to prevent cancer and cancer
is more likely to develop. There are
thousands of individual gene abnormalities that can cause a mutation on the
BRCA 1 or BRCA 2 gene. These mutations
are inherited in an autosomal dominant
fashion from a parent who carried this mutation—either father or mother. What
that means is that if your parent had a BRCA mutation, you have a 50% chance of
inheriting this mutated gene.
In the general population, the risk having a BRCA mutation
is not very common--about 1 in 300-500 people.
However, the chance of having a BRCA mutation in Ashkenazi Jews is 1 in
40, or 2.5%. This is called the incidence of the genetic mutation, or
how common it is to carry the mutation. The incidence of carrying a BRCA
mutation is the same in both Ashkenazi men and women. **(see below re: founder
mutations)
Why are BRCA Genes Important: The penetrance of a gene mutation refers to a person’s risk of developing
the disease from the genetic mutation, in this instance cancer. BRCA mutations are highly penetrant genes. Women who carry a BRCA mutation have up to
an 90 % lifetime risk of breast cancer, and up to a 50 + % lifetime risk of
ovarian cancer. Also, BRCA positive
women tend to develop breast and ovarian cancer at younger ages; For example, 20%
of BRCA 1 positive patients develop ovarian cancer before the age of 50. Men who are BRCA positive have up to
approximately a 15% risk of developing prostate cancer, as well as an increased
risk of male breast cancer. Pancreatic
cancer and Melanoma can also be seen in BRCA carriers.
Who Should Be Tested for BRCA mutations: Medical organizations in the past
have recommended that Ashkenazi Jewish men and women be tested for a BRCA
mutation only if there was a family history of breast, ovarian or pancreatic
cancer. Newer studies, however are
questioning this approach. Why? Because
we see the same BRCA incidence in Ashkenazi Jews without a family history of cancer. The risk of carrying a BRCA mutation is 1 in 40 in Ashkenazi Jews is
independent of family history. And
even without a family history, in people
who are BRCA positive, the possibility
of developing a BRCA related cancer is still very high.
Why do I want to know: We
want to identify people who are carriers before cancer develops. If a person
is BRCA positive, there are guidelines for increased surveillance to help diagnose
cancer at its earliest and most treatable stage, and procedures recommended to
decrease the risk of developing these cancers. This includes breast MRIs beginning at age 25
and both yearly MRI/mammogram at age 30.
Risk reduction surgery is also recommended, usually by age 40. This includes bilateral mastectomy with
reconstruction as well as removal of the ovaries and tubes, around age 40, or
whenever child bearing is complete. It may
sound drastic, but it is better to prevent
a cancer than to treat a cancer,
especially in the case of ovarian cancer.
Ovarian cancer is very difficult to diagnose, and when it is diagnosed
is it is frequently at an advanced stage.
What about other Jewish genes that increase the
risk of cancer:
There are other genes in Ashkenazi and Sephardic Jews that
can increase their risk of cancer.
For example, there is a gene that is carried by up to 10%
Ashkenazi Jews that increases the risk of colon cancer. Another gene more
common in Ashkenazi Jews increases the risk of Lynch Syndrome, a syndrome
associated with colon, endometrial and ovarian cancers. There are also mutations
on various genes that are more common in the Sephardic Jewish population. For
example, 1 in 80 Sephardic Jews carry a mutation on the ATM gene, which is
associated with an elevated risk of breast cancer.
Why Color Genomics: There are a handful of specific genetic
labs that have acceptable methodology. Color
Genomics is one of them. Their unpaid
advisory board is comprised of well-known medical thought leaders, including
Mary-Claire King, one of the researchers who first identified the BRCA gene in
the 1990s. And for $249 for a 30 gene panel associated with hereditary cancer
syndromes, including BRCA 1 and 2, Color
Genomics has found a very cost effective way identifying Ashkenazi Jews who
carry mutations that could increase their risk of developing cancer.
Founder Mutations: Founder mutations are gene mutations that
are more specific to an ethnic group. On the BRCA 1 and 2 genes there are about
3500 known mutations. Only 3 of these
are founder mutations. If an Ashkenazi
Jew is positive for a BRCA mutation, ~ 85 % will be one of these 3 mutations.
That means if an Ashkenazi Jew is checked only for the founder 3 mutations, we
will miss about 15 % of the mutations they could be positive for. There is a BRCA
founder mutation in Sephardic Jews, as well, but the incidence is closer to
that of the general mutation, or about 1/300. In this gene panel, all mutations
in the BRCA genes are analyzed.
Additional Information and Links:
Video:
Pink and Blue: Colors of Hereditary Cancer:
https://www.youtube.com/watch?v=SftAvdvYBm4
Readings:
Elizabeth Wurtzel, 9/15/15, New York Times: “The Breast
Cancer Gene and Me”, https://www.nytimes.com/2015/09/27/opinion/sunday/elizabeth-wurtzel-the-breast-cancer-gene-and-me.html?_r=0
Roni Caryn Rabin, 9/4/14, New York Times: “Study of Jewish
Women shows Link to Cancer without Family History” https://www.nytimes.com/2014/09/05/health/05cancer.html
Additional information available at:
Brightpink.org
Facingourrisk.org
Sharsharet.org
