Showing posts with label BRCA. Show all posts
Showing posts with label BRCA. Show all posts

Tuesday, March 19, 2019

SGO Annual Meeting - Sunday/ Monday

Delayed but here are some important tweets from the SGO meeting on Sunday and Monday.


Risk Reducing Salpingectomy and QOL


 Phase 1 Levantinib and weekly taxol in recurrent OC
PARP and ARID1A

JAVELIN  - Avelumab+peg liposomal doxorubicin VS peg liposomal doxorubicin

Phase 2 Pembro and Bev

Minorities and clinical trials

OC Patient Preferences - maintenance therapy

CCNE1 and BRD4 Expression and platinum resistance

 Thank you @KMKoerten , @DKhabeleMD, @ShannonWestin, @Stigetta, @SW_MedReporter, @StephASullivan, @StephanieVBlank for posting from the meeting!


Dee
Every Day is a Blessing! 

Wednesday, January 30, 2019

Research News - Jan 2019

A friend, social media guru and breast cancer survivor, Marie Ennis-O'Connor,  writes a weekly post in which she shares blog posts she found interesting from the week before.  In 15 Smart Ways to Drive More Traffic To Your Blog in Medium ( https://medium.com/@JBBC/15-effective-ways-to-drive-more-traffic-to-your-blog-75e1943b88f4) to recommended creating "a weekly round-up post on your blog".  I've been meaning to do this for a while but had trouble deciding what I wanted to share. Should it be journal articles or survivor stories or new resources or events? Earlier this week I decided to concentrate on research news and went to work creating a graphic I could use for these repeating posts.


On the last Wednesday of the month I will provide links to articles on ovarian cancer research and treatments I read during that month.

Here are some interesting articles published in January:

"The recent addition of targeted therapies – anti-angiogenic agents and PARP inhibitors – to the pharmacologic treatments available for ovarian cancer has improved patient outcomes while increasing the available options for the traditionally difficult-to-treat disease."

"The aim of the study is to explore the relationship between CCDC69 expression and resistance of ovarian cancer cells to cisplatin and reveal the underlying mechanism."

Morbidity and Mortality Rates Following Cytoreductive Surgery Combined With Hyperthermic Intraperitoneal Chemotherapy Compared With Other High-Risk Surgical Oncology Procedures 

"Comparative analysis revealed CRS/HIPEC to be safe, often safer across the spectrum of NSQIP safety metrics when compared with similar-risk oncologic procedures. Patient selection was important in achieving observed outcomes. High complication rates are a misperception from early CRS/HIPEC experience and should no longer deter referral of patients to experienced centers or impede clinical trial development in the United States."

Risk of Malignant Ovarian Cancer Based on Ultrasonography Findings in a Large Unselected Population 

"According to this study, the ultrasonographic appearance of ovarian masses is strongly associated with a woman’s risk of ovarian cancer. Simple cysts are not associated with an increased risk of ovarian cancer, whereas complex cysts or solid masses are associated with a significantly increased risk of ovarian cancer."  

Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases.

https://www.ncbi.nlm.nih.gov/pubmed/30683677/
"Our study suggests that age at diagnosis, family history of breast and/or ovarian cancer, medical history of breast cancer or a Manchester BRCA Score of ≥15 points are associated with a >10% prevalence of germline pathogenic BRCA1/2 variants in epithelial ovarian cancer.

 

 

Studies Seek to Expand on PARP Inhibitor Success in Ovarian Cancer 


Where Does Immune Checkpoint Inhibition Fit in Ovarian Cancer Treatment?



If you run across any interesting articles about ovarian cancer research please share them in the comments below or sent them to me in an e-mail.  I will be sure to add them to this page.  Knowledge is Power. (LiveSTRONG)

Dee
Every Day is a Blessing!
 

Thursday, September 24, 2015

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. 

  
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
 
I Have Lynch Syndrome
 
 Ovarian Cancer : The Choice to Be BRCA Tested

Wednesday, October 30, 2013

Guest Blogger: Teri Smieja Author

I first met (if that is the word you use when you find a fellow advocate on Twitter)  Teri during a recent #BCSM chat. I followed her and learned that she was the co-author of the book
Letters to Doctors: Patients Educating Medical Professionals through Practical True-Life Experiences: The BRCA and Hereditary Breast and Ovarian Cancer Syndrome Edition  . I direct messaged her about her book which is written for health professionals. She has been kind enough to write this guest blog. When I finish reading  the book I will be writing a review.   

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My name is Teri Smieja. I’m a BRCA1 Previvor, BRCA blogger, co-creator of the largest, active BRCA support group on Facebook and the co-author for an epic new book in the BRCA / HBOC realm. Our book, Letters to Doctors: Patients Educating Medical Professionals through Practical True-Life Experiences: The BRCA and Hereditary Breast and Ovarian Cancer Syndrome Edition. Letters to Doctors went ‘live’ on amazon.com on October 18th and hit #1 in two genres within the genetics and new medical books categories on the same day it was released. Weeks later, we are maintaining the #1 spot in genetics and hope to do so for many months to come.

Letters to Doctors is unlike any other BRCA book on the market in that the main target is the health care professional. Letters to Doctors has much inside of it to help the patient learn how to better advocate for themselves too, but our main focus is the medical professionals. We plan to change the way things are being done, so that people will no longer needlessly die from breast and ovarian cancer. With the advent of genetic testing, more and more BRCA positive people such as myself are making pre-emptive strikes against cancer. Unfortunately there is much misinformation among those in the medical community and it is our goal to create a paradigm shift in the way doctors treat their high-risk patients.

My co-author, Dr. Jonathan Herman (a practicing ob/gyn in NY) and myself are making no money from this book, as all profits after production costs are going straight to BRCA / HBOC related charities. We are hoping that everyone will purchase two copies; one to keep and one to give to their doctor.

Those in the high-cancer-risk world are erroneously being told by their doctors too often that:

·         You are too young to worry about this.
·         You are too old to worry about this.
·         You can’t get this mutation from your father’s side of the family.
·         Your insurance won’t pay for genetic testing.

Doctors are missing giant red flags in their patient’s intake questionnaires, such as:

·         Family history of ovarian cancer (ovarian cancer is always a red flag).
·         Family history of male breast cancer.
·         Family history of breast, ovarian, colon, pancreatic cancers.

The dots are just not being connected. Many patients rely on their doctors to be the most informed, but in the BRCA / HBOC world this is just not always the case, and people are DYING because of it.

Dr. Herman and myself believe that our doctors want to do right by us, but are basing their practice on outdated information and often times think that their patients are not emotionally strong enough to handle the implications that can come of BRCA testing. We feel that it is not our doctor’s place to judge whether or not their patients can handle this knowledge. It is not their place to tell us that genetic testing is too expensive (last time I checked, funerals were pretty pricey as well!), and we fill out stacks of paperwork prior to our doctors appointments with the expectation that it will be read, and understood properly.
It is our intention with Letters to Doctors, to help our medical staff understand better, how to do their jobs, and to truly see how important their words are to their patients.

We truly wish to save lives with this book, and know that we can do it.

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Thank you Teri for stepping forward to make a difference in the lives of women and their doctors. 

Dee 
Every Day is a Blessing!