iCARE -improving Communication about cancer Risk gEnes Project

Today I am sharing information about a new project at Rutgers Cancer Institute of NJ  to help understand how patients with BRCA mutations or Lynch Syndrome share their test results with family members.Check out the information below to find out how you can participate.

 

Many more patients are having genetic testing and it is important to provide information and tips on how to speak to family members about your results. 

Dee

Every Day is a Blessing ! 

#ASCO18 Twitter Highlights June 1 & 2, 2018

What does the first weekend in June mean for oncologists and cancer researchers throughout the world? It means it is time for the  ASCO Annual Meeting in Chicago. I was not able to attend the ASCO Annual Meeting in person this year so I am following the tweets my friends who are attending are sharing.  I was able to take part in a Guideline meeting held at the Meeting on Saturday afterbiib via Webex. So I was there in a sense.
As i the past I will be following the meeting via tweets by doctors , researchers and advocates who are attending. It is not as much fun or exhausting as being there in person but it allows me to keep up to date on the latest results. I'll share the Tweets I found most interesting in the next few blog posts.

I also have been getting e-mail updates from ASCO regarding breaking news and important topics from the meeting. Below the tweets you will find some articles from the ASCO Daily News and ASCO Post that you may find of interest.

First the Tweets:

MATCH TRIAL

MATCH trial results at #ASCO18: sobering reality of precision guided trial enrollment—not always a home run. pic.twitter.com/Pt0XkHSXGj

— Michael Fisch (@fischmd) June 1, 2018

Lynch Syndrome:

Lynch syndrome is common among patient with MSI-high tumors. Via @ASCOPost #ASC018 https://t.co/lJdGKBXvqU pic.twitter.com/bm7JeSxZ7z

— Dr Muin J. Khoury (@MuinJKhoury) June 2, 2018

A genomic study of more than 15,000 #tumor samples presented at #ASCO18 showed that people w/ tumors w/ MSI-H are more likely to have #LynchSyndrome & thus have an increased risk of developing certain types of #cancer . More @ASCOPost https://t.co/lrr0adtMU6 pic.twitter.com/cYQb1yjpKY

— Gil Morgan (@weoncologists) June 2, 2018

Survivorship

Excited to share our survivorship research at #ASCO2018, now published in @JAMAOnc. @AnilSoodMD @MDAndersonNews https://t.co/C0ua5g6rQ4

— Dr. Robert Dood (@DrRobDood) June 2, 2018

Endometrial Cancer

Important finding regarding the importance of weight and #cancer development - High BMI OR gaining large amounts of weight can increase risk of obesity-related cancers like #endometrialcancer #breastcancer #kidneycancer #gyncsm #ASCO18

— Shannon Westin (@ShannonWestin) June 1, 2018

#lcsm #gyncsm #hancsm #asco18 https://t.co/tgyvCJN979

— Danielle Pardue (@Actorielle) June 1, 2018

Clinical Trial Participation:

This highlights one of the many frustrating reasons why clinicians often cannot enroll their patients in #clinicaltrials despite trying, and wanting to! Eligibility criteria need to be more thoughtful, rather than reflexive, standard, or automatic #ASCO18
https://t.co/AL3lbQlmKp

— Thomas LeBlanc, MD (@tomleblancMD) June 2, 2018

ASCO POST or DAILY News Articles:

Lynch Syndrome:
www.ascopost.com/News/58898

Patient Communication:
https://am.asco.org/addressing-patient-communication-challenges

Patient Survivorship Care:
https://am.asco.org/patients-moderate-severe-anxiety-or-depression-symptoms-recognizing-assessing-referring-and

IMPACT Trial :
http://www.ascopost.com/News/58897?email=865aa94a58f0b27b9edd2aa71d80e9a99b924971f7ce90316a0d742b2e9c9b1c

Patient Education and Quality of Care:
https://am.asco.org/patient-education-essential-element-quality-cancer-care
Economics and Value Discussion:
https://am.asco.org/bringing-economics-back-value-discussions

I'm looking forward to the next few days when there will be a greater emphasis on Gynecologic Cancers.

Dee
Every Day is a Blessing!

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

OC awareness month #18 - Lynch Syndrome

While at the ASCO meeting in June I spent some time talking to the Myriad representatives. Myriad is the company that does the genetic testing for gene mutations, deletions and additions. I asked if the test used today is any different from the one they used to test my blood  6 years ago. There response was that they would test for LYNCH SYNDROME.

I knew Lynch syndrome associated with colorectal cancer but I wasn't sure how strong a connection there was between Lynch Syndrome and  ovarian cancer.

"Lynch Syndrome is also known as hereditary non-polyposis colorectal cancer (HNPCC), is a type of inherited cancer of the digestive tract. Lynch syndrome increases a woman's risk of ovarian and uterine cancer. It is caused by mutations in several different genes. Lynch syndrome also increases the risk of colorectal cancer, as well as cancers of thestomach, small intestine, liver, bile duct, urinary tract, the brain and central nervous system, and possibly breast cancer. http://www.cancer.net/all-about-cancer/genetics/genetics-ovarian-cancer
"
Mutations in the MLH1 or MSH2, MSH6 or PMS2 or EPCAM genes  are associated with Lynch Syndrome. Families with Lynch syndrome have two or more members who have colorectal, endometrial , ovarian or other cancer.

For more information about the test for Lynch Syndrome see this page.

Here is some interesting research on the Lynch Syndrome Ovarian Cancer link.

* Ovarian cancer linked to Lynch syndrome typically presents as early-onset, non-serous epithelial tumors.

*Routine Lynch Syndrome Screening Varies at U.S. Cancer Centers

* The clinical features of ovarian cancer in hereditary nonpolyposis colorectal cancer.



Dee
Every Day is a Blessing!