Medically Underserved Individuals and BRCA Testing Study Results - JAMA article

Knowledge of whether or not you have a hereditary BRCA 1 or 2 mutation can impact the treatment decisions of women diagnosed with breast and ovarian cancer.

Last week, researchers reported the results of an analysis of the Southern Community Cohort Study (JAMA). From 2002-2009 over 49,000 women were recruited to the Southern Community Cohort Study from community health centers in twelve southeastern states. Of those women 2002 had breast, ovarian or both cancers. Of that group 718 (62% black and 33% white; 689 breast cancer and 30 ovarian cancer) were covered by medicare. Sixty-two percent of the women reported an annual income of less than $15,000. Ninety-two of the 718 women would qualify to have Medicare cover the cost of BRCA testing.

Amy Gross, PhD Vanderbilt University reported that of those 92 women only 8 had BRCA testing within five years of diagnosis.  Analysis of the medical records from the twelve states showed that Arkansas, Louisiana, Tennessee, and West Virginia had zero tests.  When data from 2000-2004 was examined it was found that no eligible women were given a BRCA test. Later years showed an increase in testing but in 2010-2014 only ~ 15% received the test. “This testing rate is lower than what I have seen reported in terms of any other study with the same time and eligibility constraints,” Gross said.(VUMC Reporter) The numbers did improve over time

While the sample size is small there could be a few reasons for why the numbers are so low including lack of interest on the part of the patient, lack of referrals for testing by physicians or lack of available resources. The researchers concluded that "novel strategies are needed to ensure that medically underserved women with cancer receive appropriate referral and access to genetic testing."

After reading this report I wonder...
How these numbers from medically underserved individuals compares to women covered by other insurance plans and/or those treated at larger cancer centers during the same time period?

We know that BRCA status is critical in deciding which treatments a women with ovarian cancer provide the most benefit but it also impacts the ability of family members to reduce their risk of breast and ovarian cancer. What can we do to insure that all women diagnosed with epithelial ovarian cancer have access to BRCA genetic testing as recommended by the SGO.

Dee
Every Day is a blessing! 

Resources:
The JAMA article https://jamanetwork.com/journals/jama/article-abstract/2696996
Reuters Article https://www.reuters.com/article/us-health-breastcancer-gene-testing/not-all-women-eligible-for-breast-cancer-gene-tests-are-getting-them-idUSKBN1KZ1RP
VUMC Reporter article http://news.vumc.org/2018/08/14/medically-underserved-women-in-the-southeast-rarely-receive-brca-tests/

An Introduction to Genetics and Ovarian Cancer

When I was diagnosed with ovarian cancer I decided to learn as much as I could about the disease. While I was in treatment I was offered genetic testing for BRCA1 and 2 which I accepted. Our knowledge about the genetics of ovarian cancer has grown tremendously over the past ten years.

Let's start with this basic video from the NCI on genetics and cancer. 

Now let's talk about ovarian cancer in particular. 

About 15% of the ovarian cancers diagnosed are due to germline (inherited and passed on to offspring)  mutations in the BRCA1 and BRCA2 genes. Having these mutations increases the risk of ovarian cancer by 15-50%. “Nearly one-third of women with hereditary ovarian carcinoma have no close relatives with cancer, and 35% of women with hereditary ovarian carcinoma are older than 60 years at diagnosis”( NCI) .  The remaining ovarian cancers are due to what we call sporadic or somatic mutations. 

Following the BRCA mutations the next inherited syndrome that leads to ovarian cancer is Lynch Syndrome.  Mutations in the MLH1, MSH2, MSH6, PMS2 and EPCAM genes are linked to Lynch Syndrome.  Women who have Lynch syndrome have an estimated 9-12 % lifetime risk for developing ovarian cancer. (http://www.cancer.net/cancer-types/lynch-syndrome)

In June 2011, the The Cancer Genome Atlas (TCGA) Research Network issued the results of whole-exome sequencing of ovarian cancer tumors. They examinesd the protein-coding regions of the genome, of 316 ovarian cancer tumors. 

http://www.nature.com/nature/journal/v474/n7353/full/nature10166.html

  

The study found :

21 percent of the tumors studied showed mutations in BRCA1 and BRCA2 

six other statistically recurrently mutated genes: RB1, NF1, FAT3, CSMD3, GABRA6 and CDK12. CDK12 is involved in RNA splicing regulation 

96% of ovarian cancers had a T53 mutation. T53 controls a tumor suppressor protein that stops cancer from forming

108 genes were associated with poor survival

85 genes were associated with better survival

68 genes that could be targeted by existing Food and Drug Administration-approved or experimental therapeutic compounds 

Four related subtypes of ovarian cancer based on the patterns of DNA methylation—a chemical reaction in which a small molecule called a methyl group is added to DNA, changing the activity of individual genes. 

The SGO released a Clinical Practice statement in 2014 stating that all women diagnosed with ovarian, tubal and primary peritoneal cancer regardless of age or family history should receive counseling and offered a genetic test. (https://www.sgo.org/clinical-practice/guidelines/genetic-testing-for-ovarian-cancer/ ) Knowing a women has a BRCA mutation may allow her to receive PARP inhibitor treatment . Olaparib was recently approved by the FDA to treat women with recurrent ovarian cancer. 

In August  ASCO issued an updated policy statement on genetic and genomic testing. ( http://www.asco.org/press-center/asco-releases-updated-policy-statement-genetic-and-genomic-testing-cancer ) 

The more researchers understand the genetics of ovarian cancer the better they can  develop drugs to treat specific mutations and the more personalized women's treatment can become. 

Dee

Every Day is a Blessing! 

Additional Sources:

Lynch Syndrome and Ovarian Cancer

https://www.urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=85&ContentID=P08122

 

I Have Lynch Syndrome

http://www.ihavelynchsyndrome.com/

 
 Ovarian Cancer : The Choice to Be BRCA Tested

Research News : Aspirin and Oophorectomies

ASPIRIN

Feb 6,2014 Journal of the National Cancer Institute

Chronic inflammation has been shown to increase the risk for cancer.Aspirin is known to possess  anti-inflammatory properties. Using data from 12 large epidemiological studies (8000 women with ovarian cancer and 12,000 without the disease) researchers at the NIH studied whether aspirin, non-aspirin NSAIDs (non-steroidal anti-inflammatory drugs) or acetaminophen had a lower risk of ovarian cancer.

Conclusion:  Daily use of low-dose aspirin was found to reduce the risk of ovarian cancer by 20-34% depending on the dose and frequency. The same low dose aspirin regime has show Cardiovascular  benefits.

My Take: Further prospective randomized studies are needed to verify this research.
There are risks to taking aspirin such as gastrointestinal bleeding but this may be a readily available low cost was to reduce a women's risk for ovarian cancer. .


OOPHORECTOMY 
Feb 24 Journal of Clinical Oncology

This study included over 5000 women with BRCA1 & 2  mutations who had their ovaries removed. The goal of the research was to estimate the reduction in the risk of developing ovarian, fallopian and peritoneal cancers by the age the women had their ovaries removed.The study also looked at the impact the surgery had on the women's mortality. 

Conclusion: Preventative oophorectomy in women with BRCA1 mutations reduces the risk of ovarian cancer by 80%. The study also found a 77% reduction in deaths by any cause by the age of 70 when women had the surgery. 

Recommendation: Women with BRCA1 mutation should  have their ovaries removed by age 35.  Waiting to a later age for the surgery increases the risk of being diagnosed with ovarian cancer. 

My Take: This study verified the importance of ovary removal at age 35 for women who carry the  BRCA1. Having to deal with menopause at an early age is not easy but women who are BRCA1 should discuss this surgery with their doctors . 


Notes:  Risk is the chance a person has of developing cancer over their lifetime. The risk of a woman developing ovarian cancer is 1.37 or 1 in 73 women. Data from ACS.


Dee
Every Day is a Blessing!

In The News: Social Influences, Germline mutations and OCNA Conference materials

There were a few interesting research reports release the past week or so.

Social Influences on Clinical Outcomes of Patients with Ovarian Cancer
This research appeared in the Journal of Clinical Oncology.  The lead researchers were from the University of Iowa but included doctors from different institutions throughout the country. In this prospective study ( women were recruited for the study and followed ) they  looked at the relationship between support and long term survival among women with epithelial ovarian cancer. One hundred sixty eight patients were recruited for the study.  The statistical model used to analyze the data took into account stage, grade, histology and age .

Conclusion: Greater social support was associated with a lower likelihood of death. Fifty-nine percent of  women with a high level of social support were found to survive 4.70 years while those with minimal support survived a median of 3.35 years.

My Take: I find this study intriguing.  I would like to see this study done with a larger population


Germline BRA1 and BRCA2 Mutations in Ovarian Cancer:Utiltiy of a Histology-Based Referral strategy 

This Canadian Study ran from 2004 to 2009 and will be published in an upcoming issue of  Obstetrics and Gynecology.  The study recruited women with nonmucinous epithelial ovarian cancer , fallopian or primary peritoneal cancers and asked them to bank their tumors and receive genetic counseling. Family history was taken for each patient. One hundred thirty-one women participated. BRCA 1 and 2 mutations were found in twenty percent of the women and exclusively in women with high grade serous histology.

Conclusion: Germline mutations are associated with high-grade serous histology.  This suggests that all women with high grade serous ovarian cancer have genetic testing. This will improve detection rates and mutation carriers will be found that would not be found if only family history of breast and ovarian cancer is used.

My Take: Since the treatment of ovarian cancer for those with BRCA mutations can vary from those without the mutations this study strengthens the call for genetic testing of all women with high grade serous ovarian cancer.

OCNA Conference
The OCNA conference took place in early July in Washington ,DC.
Here is a link to the conference materials which include a number of interesting presentations related to research and treatment.


Dee
Every Day is a Blessing!

ASCO - the End Part I

It has been a very hectic, tiring past few days but I am so happy I have been able to attend so many interesting sessions here at ASCO.

After having breakfast with fellow advocates Sharon and Susan I checked out of the hotel and headed back down to McCormick Place. First stop ? Another poster session, this time on cancer prevention and epidemiology.

I had a wonderful conversation with a researcher from Memorial Sloan Kettering who presented data from a study( poster 1509) looking at testing women with high grade serous epithelial ovarian cancer for BRCA mutations. Of 79 patients with no family history of breast or ovarian cancer 19% had a detectable BRCA1 or 2 mutation. The study concluded that the number of mutations identified supports current recommendations that it is reasonable to consider genetic testing for any woman with high grade serious epithelial ovarian cancer.

Then I strolled to a session called Assessing Patients Psychosocial Needs : How to Do this In Your Busy Schedule. After a review of the risks of emotional issues for survivors, the use of the Depression Thermometer as a tool to determine psychosocial problems was discussed. Many oncology practices do not ask questions about how a survivor “feels “ emotionally. So the speaker recommended that patients be asked how they feel along with assessing their pain, temperature, & blood pressure when they come in for a visit. Use of the DT was suggested as a way to gather that information.

When that session finished I went into the exhibit hall where there were over 220 exhibitors.I decided to do a bit of personal research so that I could better understand how vascular endothelial growth factor (VEGF) inhibitors, Sorafenib ( Nexavar) by Bayer and Bevacizumab ( Avastin) by Genentech, work. Avastin is a monoclonal antibody that binds to the VEGF released by the cancer cells . Today I learned that Sorafenib is a small molecule inhibitor which blocks kinase proteins from signaling the cell to create the molecules it needs create the blood vessels. .

Before I knew it the day was over! Time to say goodbye to some very remarkable people, my new friends, the scholars of the Focus on Research Program.

Part II tomorrow.

Dee

Every Day is a Blessing! What a blessing it has been to be a participant in this program.