All Women of Ashkenazi Descent to be Screened for the Genectic Mutations

On October 18 2014, my oncologist, Dr. Mohamed gave an excellent, very informative presentation that I attended on the risk of BRCA gene mutation of the Ashkenazi Jewish ancestry. Here listed, are some facts that I gathered from different websites that I thought was important to share with the Ashkenazi community.

Know your family history, know your risk

 

http://www.penncancer.org/basser

• Individuals of Ashkenazi Jewish ancestry (descendants from Eastern and Central Europe) have a 1 in 40 chance of carrying a BRCA gene mutation. This is at least a ten times greater probability than that of the general population.

• Women who carry mutations in BRCA1 or BRCA2 have up to an 80% risk of developing breast cancer and up to a 45% risk of developing ovarian cancer.

• The chance that breast, ovarian, or pancreatic cancers are associated with BRCA mutations is highest in families
  with Ashkenazi Jewish ancestry, multiple cases of breast cancer, women with both breast and ovarian cancer,
  breast cancer under age 50, individuals with two or more cancers, male breast cancer, pancreatic cancer or ovarian cancer at any age. 

• BRCA mutations are also associated with increased risk of fallopian tube, primary peritoneal (abdominal lining), pancreatic, melanoma, male breast and prostate cancers. 

• Men who carry BRCA mutations also have increased cancer risks.

• Men can also carry and pass these gene mutations on to their family, and also have increased cancer risk.

• If  a mother or father carries a BRCA gene mutation, there is a 50% chance of passing it on to each child. 

 

http://www.sharsheret.org

"Instead of Ashkenazi women being tested for the two defective BRCA genes only if a close blood relative contracted breast or ovarian cancer, a research team headed by Shaare Zedek Medical Center Prof. Ephrat Levy-Lahad recommends that all women of Ashkenazi origin be screened for the genetic mutations from age 30." http://www.jpost.com/Israel-News/Health/Israeli-research-team-Screen-all-Ashkenazi-Jewish-women-for-BRCA-mutations-374551 (Click link to story)

Melissa Paskvan and Dr. Mohamed

My Notes From a Genetic Testing Presentation

Recently, I went to a presentation on Genetic Testing and took some notes to share. I know that me having Triple Negative Breast Cancer and being diagnosed at under age 50, I have an increased risk of inheriting a BRCA1 or BRCA2 faulty gene. I have not been tested yet mainly because of financial reasons. I am learning more and more about heredity breast and ovarian cancers, and I'm coming to terms that "power of knowledge" can have an effect on my future health. I know how serious this is to get tested and to know one way or another so I can be proactive if there is a risk.

Heredity Breast and Ovarian Cancer (HBOC) syndrome is an inherited condition that causes an increased risk for ovarian, breast, pancreatic and prostrate cancer. The vast majority of hereditary breast and ovarian cancer is due to an alteration or gene mutation in either the BRCA1 or BRCA2 genes.  These genes mutations can be inherited from either your mother or father.

Sporadic Cancer- Occurs by chance

Familial Cancer- Not inherited. Combination of genetic and environmental risk factors.

Hereditary Cancer- Altered gene passed down from parent to child.

Genetics  

Evaluate pedigree going back 3-4 generations:

 ❍ = Female, ❒ = Male

      ❍——————                             ————❍————

          Anna Keenan  ❙                              ❙                              ❙  Bertha 

      G. Grandmother  ❙                              ❙                              ❙  Great aunt

 Age 58, Lung Cancer ❙                              ❙                              ❙  Breast Cancer

                   ❍ ——— —                  ————❍                   ❍

                                      ❙                ❙  Hulda 

                                      ❙                ❙  Grandmother, 62

                                      ❙                ❙  Cancer of Spine/Tailbone, Buttocks

                       ❒——— ————————❍

           Joseph W. Stukenborg   ❙

                            Father, 59   ❙

                            Melanoma   ❙

                                            ❍ Melissa Paskvan (my profile)
                                                 Me, 41

                                                 Triple Negative Breast Cancer

11-18% TNBC is BRCA Positive

Who gets hereditary cancer testing? Having a significant family history of breast and/or ovarian cancer
- Breast Cancer diagnosed before age 50
- Ovarian Cancer
- 2 breast cancers
- Male breast cancer
- Triple Negative Breast Cancer
- Ashkenazi Jewish ancestry with heredity cancer
- 3 or more hereditary cancers on one side of family
- Previous hereditary mutation identified

Genetic Counseling

Follow-up Appointment- Must have referral

↓

1) Diagnosed under age 45

2) Preventative - Have 2 or more Family History

- Early 20's - Get genetic testing if heredity.

or

Additional screenings and treat as being positive until she gets tested.

-  Children of diagnosed parent - Child should start screening at 10 years

younger than parent's age at diagnosis.

Testing

• Blood test to determine if a woman is "highly susceptible" to breast and ovarian cancers.
• Only way to identify gene mutation carriers of BRCA1 or BRCA2
• Inform yourself on medical management decisions to reduce cancer risk
• Determine family members risk
• If gene mutation in immediate family, 50% chance of inheriting same gene mutation 

BART    }  90 %

BRCA1  }  Accurate

http://www.myriad.com

Myriad - More reliable results

             - Largest Data Base

             - Testing since 1990's

             - Less than 3% inaccuracy 

             - Cost $4000

             - 2 weeks test results 

GINA - Genetic Information Non-Discrimination Act

           - Protects Employment and Health Insurance

Bright Pink - The Little Bright Book A national non-profit organization providing education and support to young women who are at high risk for 

breast and ovarian cancer. (Young 20-30's ladies trying to decide on pursuing testing)

BeBrightPink.com

BRCA Positive Result options

1. Increase Surveillance 

• Monthly breast self exams at age 18, clinical breast exams twice a year at age 25
• Yearly screening with both mammogram and MRI starting at age 25
• Pelvic exam twice a year at age 35
• Ovarian ultrasound and CA-125 levels in blood twice a year

2. Medicine risk reduction

• Tamoxifen reduce breast cancer risk up to 53%
• Birth control pills reduce ovarian cancer risk up to 60%

3. Preventative Surgery

• Preventive mastectomy (breasts removal) reduce breast cancer risk up to 90%
• Preventive Oophorectomy (ovaries and fallopian tubes removal) reduces risk of ovarian cancer up to 96% and breast cancer risk up to 68%

USPSTF - Law for Affordable Care

↓

Qualify for 100% Coverage

BRCA 1, Diagnosis Rate        \

50-80% Breast Cancer           \

40-60% 2nd Breast Cancer      \
30-45% Ovarian Cancer             \

                                                     \      All Connected

                                                     /

Colon Cancer                               /

Pancreatic Cancer                      /

Male Breast Cancer                  /

Prostate Cancer                     /

In May 2013, 37yr. old actress, Angelina Jolie, made a choice to have a preventative double mastectomy knowing she carried the BRCA1 gene.

"For any woman reading this, I hope it helps you to know you have options," Jolie wrote. "I want to encourage every woman, especially if you have a family history of breast or ovarian cancer, to seek out the information and medical experts who can help you through this aspect of your life, and to make your own informed choices." - Angelina Jolie

http://www.cnn.com/2013/05/14/showbiz/angelina-jolie-double-mastectomy 
(Click link to story)

http://www.ohsu.edu/blogs/96kmiles/2013/05/15/angelina-jolies-double-mastectomy-and-brca-genes/?WT_rank=6 (Click link to story)

Breast Cancer Gene Mutation

Who should have genetic counseling and consider genetic testing for hereditary breast cancer?

• A woman age 50 or younger who has been diagnosed with breast cancer.

• A woman of any age of has had ovarian cancer or who has a first-degree* relative diagnosed with ovarian cancer.

• Multiple breast or ovarian cancers (primary cancer) in a woman or a first degree relative.

• Any individual with multiple family members with breast or ovarian cancer.

• Any male with diagnosed breast cancer or individuals, male or female, with a family history of male breast cancer.

• An individual with triple negative breast cancer at age 60 or younger; triple negative means the cancer cells lack certain biomarkers that make the cells responsive to treatment.

• An individual of Ashkenazi Jewish heritage.

*First-degree relatives include parents, siblings and children.

Sources: National Comprehensive Cancer Network; and Melissa Dempsey, genetics counselor, Parkview Comprehensive Cancer Center

http://www.news-sentinel.com/apps/pbcs.dll/article?AID=/20130702/NEWS/307029998/0/SEARCH (Click link to story)

Three women share their stories
http://www.news-sentinel.com/apps/pbcs.dll/article?AID=/20130703/NEWS/307039998 (Click link to story)

The Ethical Implications of Gene Patenting

"Do genes qualify as a property that a single individual or corporation is allowed exclusive rights to? This spring, the Supreme Court will hear a case that could dictate the future of biomedicine. Currently, Myriad Genetics Corporation, a biotechnology outfit in Utah, has patented two human genes known as BRCA1 and BRCA2. These genes are known to greatly elevate a woman's risk of breast and ovarian cancer. This patent allows Myriad Genetics to block all others from using these genes for the purposes of breast cancer diagnostics, research and treatment...."

http://www.empowereddoctor.com/the-ethical-implications-of-gene-patenting (Click link to full story)

UPDATE: Published June 13, 2013
"Human genes may not be patented, the Supreme Court ruled unanimously on Thursday. The decision is likely to reduce the cost of genetic testing for some health risks, and it may discourage investment in some forms of genetic research.  The case concerned patents held by Myriad Genetics, a Utah company, on genes that correlate with an increased risk of hereditary breast and ovarian cancer."
http://www.nytimes.com/2013/06/14/us/supreme-court-rules-human-genes-may-not-be-patented.html?_r=0 
(Click link to story)

Breast Cancer Risk Genetic Testing Covered Under the Affordable Care Act?

Today (March 6), Myriad Genetics, the company that makes the test for the breast cancer genes BRCA1 and BRCA2, said that the U.S. government considers these tests to be preventive services. This means that private insurance plans are required to cover the cost of the tests, including co-pays, deductibles and coinsurance, provided that the plans do not have a "grandfathered" status.
http://www.myhealthnewsdaily.com/3590-genetic-testing-breast-cancer-insurance-coverage.html (Click to story)

Vitamin D Holds Promise In Fighting Triple Negative Breast Cancer

BOTTOM LINE:

• Researchers have discovered a way in which one of the deadliest and most difficult to treat breast cancers allows tumor cells to grow unchecked and how these tumors resist treatment. Specifically, they found that BRCA1-deficient cells activate CTSL which leads to lower levels of the protein 53BP1 which, in turn, allows cancer cells to grow unchecked.
• In addition, they discovered the potential for a new therapy involving vitamin D, and identified biomarkers that can help identify which patients could benefit from this therapy.
• In the future, women with triple-negative breast cancer may benefit from a treatment that includes vitamin D. As with all laboratory research, vitamin D therapy will have to be studied in a clinical trial before doctors know how safe or effective it will be.
• Researchers’ next steps will be to study molecular mechanisms behind the activation of the degradation of 53BP1 by CTSL. In addition, preclinical studies with vitamin D and cathepsin inhibitors as single agents or in combination with different drugs are underway in mouse models of breast cancers.

http://www.slu.edu/x71202.xml (Click link for full story)

Prevalence Of BRCA1 Mutations Among 403 Women With Triple-Negative Breast Cancer: Implications For Genetic Screening Selection Criteria: A Hellenic Cooperative Oncology Group Study.

http://www.ncbi.nlm.nih.gov/pubmed/22434525
(Click to link)

Hereditary Cancer Awareness Week And National Previvor Day

Know your body, know your family history, know your risks!

In 2010, FORCE pushed and succeeded through The House of Representatives, declaring the last week of September as National Hereditary Breast and Ovarian Cancer (HBOC) Week and and National Previvor Day. HBOC week is recognized with increased awareness to the hereditary link between breast and ovarian cancer as we move from National Ovarian Cancer Awareness Month (September) to National Breast Cancer Awareness Month (October). National Previvor Day is designated to the last Wednesday of September marked by awareness to those who are carriers of the inherited gene mutation making them vulnerable to developing the cancer in their lifetime.  http://interact.stltoday.com/pr/lifestyle/PR09221001424397 

(Click link to story)  

Note: 80% of women with inherited BRCA1 gene mutation that has a breast cancer diagnosis tends to be triple-negative. 
 http://www.nj.com/living/index.ssf/2010/10/research_fundraisers_focus_on.html 
(Click link to story)

http://wassermanschultz.house.gov/2010/09/wasserman-schultz-resolution-to-designate-national-hereditary-breast-and-ovarian-cancer-week-passes.shtml
(Click to link)

Webinar: Triple Negative Breast Cancer In Those With BRCA Genetic Mutations

Time	Tuesday, May 31 · 2:00pm - 3:00pm
Location	Online, register here: http://bit.ly/mg2SGn
Created By	Susan G. Komen for the Cure
More Info	May 31, 2011 at 2:00 PM CDT | 3:00 PM EDT | 12:00 PM PDT Please join us for a discussion on triple negative breast cancer (TNBC) and how it relates to those with BRCA genetic mutations. Anyone can get triple negative breast cancer, but research has shown that women who have BRCA1 mutations are at higher risk. So, what do you need to know? What can you do to help reduce your risk? What research is being done? Join us to find out. Our speakers for the hour will be Dr. Susan Domchek, a clinical researcher and Komen Scholar from the University of Pennsylvania, Sue Friedman, Executive Director of FORCE and survivor Laura Dubin. Register for this webinar here: http://bit.ly/mg2SGn This event is being streamed over the internet. It is recommended that you listen through your computer speakers. If for any reason you are unable to listen through your computer speakers, you can listen by telephone by calling: Backup Telephone: ( 877 ) 633 - 6595 Conference ID: 62717551