Showing posts with label genetics. Show all posts
Showing posts with label genetics. Show all posts

Tuesday, September 29, 2015

Hereditary Breast and Ovarian Cancer Week



[posted updated 9/2016, 9/2017, 9/2018]

The #gyncsm community has chatted about gynecologic cancer risks, the genetics of cancer (Genetics and Personalized Medicine), Genetic Counselors and Understanding Gyn Cancer Risk and Hereditary vs Somatic Mutations. HBOC week gives us another opportunity to share resources and information on hereditary ovarian and breast cancers.

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 Society of Gynecologic Oncology 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 be offered a genetic test. (https://www.sgo.org/clinical-practice/guidelines/genetic-testing-for-ovarian-cancer/)

F.O.R.C.E. (Facing Our Risk of Cancer Empowered) has played a crucial role in raising awareness, providing information and supporting research into hereditary breast and ovarian cancers. "The goal of HBOC Week and Previvor Day is to raise awareness about hereditary cancer. HBOC Week marks the transition between National Ovarian Cancer Awareness Month and National Breast Cancer Awareness Month and recognizes anyone affected by hereditary breast or ovarian cancer, including women and men with BRCA mutations, people with a family history of cancer, breast and ovarian cancer survivors, and previvors, individuals who carry a strong predisposition to cancer but have not developed the disease."

We hope you find these resources helpful. 


Hereditary Cancer Resources:

Bright Pink
www.bebrightpink.org
F.O.R.C.E. (Facing Our Risk of Cancer Empowered)
http://www.facingourrisk.org/
Sharsheret
http://www.sharsheret.org/
BRCA Mutation
http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA
Lynch syndrome
http://www.cancer.net/cancer-types/lynch-syndrome
Cowden syndrome
http://www.cancer.net/cancer-types/cowden-syndrome
Li-Fraumeni syndrome
https://www.lfsassociation.org/what-is-lfs/
Peutz-Jeghers syndrome
https://www.cancer.net/cancer-types/peutz-jeghers-syndrome



Genetics: 
National Society of Genetics Counselors http://nsgc.org/
Find a Counselor Tool: http://nsgc.org/p/cm/ld/fid=164


Dee
#gyncsm Co-Founder 

Thursday, July 23, 2015

Genetic Testing and Ovarian Cancer

Genetic Testing and Ovarian Cancer originally appeared as a blog post on the National Society of Genetics Counselors (NSGC) website on Mar 23, 2015. It was written by Leigha Ann Senter-Jamieson, MS, LGC. Thank you  NSGC and Liegha Senter-Jamieson for allowing us to share this important information with the #gyncsm community.  



DNA Double Helix
As a genetic counselor specializing in ovarian cancer, I was heartened to learn about a recently approved chemotherapy treatment for women with a type of inherited ovarian cancer. In December, the US. Food and Drug Administration granted accelerated approval of Lynparza (also known as olaparib) for women whose ovarian cancer is caused by an inherited mutation in the BRCA1 or BRCA2 gene. Currently, this treatment is only for women whose cancer has failed to respond to three other types of chemotherapy.

Precision Medicine
This is an exciting example of how our understanding of the role of genetics in cancer is advancing the field of precision medicine, and bringing hope to women with ovarian cancer or anyone with a cancer that’s resistant to many of our standard treatments.

If you or a close relative has ovarian cancer, you may want to learn more about this treatment option, and consider genetic testing and genetic counseling. Genetic counseling both before and after the test is key.

What Genetic Testing Can Tell You
Genetic testing for ovarian cancer can provide information beyond whether a specific type of chemotherapy might be effective. It can tell you whether your particular type of cancer is hereditary and whether your close relatives, men included, may be at increased risk for developing ovarian cancer or other cancers, and whether they should consider being tested. Data suggest that up to 15 percent of women with ovarian cancer have a BRCA1 or BRCA2 mutation. These genes are associated with a 50 percent to 80 percent lifetime risk of breast cancer and a 20 to 40 percent lifetime risk of ovarian cancer in women, as well as an increased risk for breast cancer in men. These cancer risks are much higher than the risks faced by the general population. Because of this, women with the BRCA gene mutations are advised to begin cancer screenings at an earlier age and have them more often. Some women also consider having surgery to remove their ovaries or their breasts, which significantly lowers their risk of developing cancer. Since men may also inherit a BRCA1 or BRCA2 mutation, genetic testing is important for male relatives to consider as well since their screening would be adjusted if they were found to have the mutation.
Genetic counseling both before and after [genetic testing] is key.

While BRCA1 and BRCA2 mutations are the most common causes of hereditary ovarian cancer, there are less common genetic causes of the disease. In fact, many women with ovarian cancer now choose to have more extensive genetic testing utilizing what is often referred to as multi-gene panel testing. These tests analyze many genes at once and often include the BRCA genes. Multi-gene panels usually include other well-known genes that are less commonly associated with ovarian cancer risk. For some of the genes included in these tests, there are no published guidelines regarding cancer screening so it’s up to your cancer genetics care team to design a screening plan based on the available data.

The Role of Genetic Counseling
The information provided by genetic testing can be extremely useful, but it can also be overwhelming. A genetic counselor can help you decide which genetic test is right for you, guide you through the test results and what they mean for you and your family, and help you consider your options for screening, prevention or treatment.  
If you’d like to speak with a genetic counselor, you can locate one in your area using NSGC’s “Find a Genetic Counselor” tool.


Leigha Senter-Jamieson, MS, LGC is a member of the National Society of Genetic Counselors 2015 Board of Directors and is associate professor in the Division of Human Genetics in the Department of Internal Medicine at The Ohio State University



Dee
Co-moderator #gyncsm

Friday, May 8, 2015

May Chat : Advances in Personalized Medicine for GYN Cancer

Our October 2013 chat topic was "Genetics and Personalized Medicine". Many new developments and initiatives have occurred since then. During our May 13, 2015 (9pm EST) chat we will provide an update on advances made in personalized medicine and how they impact the care of patients with gynecologic cancers.

In addition to our regular Health Care Moderators, Dr. Scott Richard (@sdr2md) Director of the Division of Gynecologic Oncology at Hahnemann University Hospital and Kelly Mellott and Dr. Juan Avila from Helomics™ Corporation (former known as Precision Therapeutics; they will be tweeting as @HelomicsCancer) will join us for this important discussion. Helomics™ Corporation is a healthcare company that develops innovative diagnostics for the oncology field. PLEASE NOTE: Helomics' participation in this chat is NOT an endorsement of the company's products or services by the #gyncsm community or our health care moderators.

The discussion questions are:

T1A: What are some misconceptions you've heard about personalized medicine?
T1B: What personalized medicine options are currently available to gyn cancer patients? What is tested - tumor tissue, blood?
T2: How does genetic testing impact treatment decisions? What genetic tests are recommended for gyn cancers?
T3: How can I discuss personalized medicine options with my cancer care team? What if my doctor doesn't believe in these options?
T4A: How do you think the President’s Precision Medicine Initiative will affect patients/ research?
T4B: What are the challenges to bringing the benefit of personalized medicine to gyn cancer patients? How will patient care change?

To prepare for our discussion you may read  President Obama's Precision Medicine Initiative Fact Sheet . Additional articles/resources may be found on the CDC's Public Health Genomics page and on the NCI's Precision Medicine and Targeted Therapy page.

We look forward to having you join our discussion or come and "lurk and learn".

Dee
#gyncsm co-founder and co-moderator

Thursday, March 26, 2015

She Has Lynch Syndrome

March is Colorectal Cancer Awareness month. Lynch syndrome also called hereditary nonpolyposis colorectal cancer (HNPCC) is associated with colorectal cancer but many are unaware that the syndrome is also associated with endometrial cancer and ovarian cancer. Women with Lynch syndrome have a 21-71% risk of endometrial cancer and a 3-14 % risk of ovarian cancer. Additional information regarding surveillance, risk reducing surgery, etc. may be found on the Up To Date website at: http://www.uptodate.com/contents/endometrial-and-ovarian-cancer-screening-and-prevention-in-women-with-lynch-syndrome-hereditary-nonpolyposis-colorectal-cancer.

Georgia Hurst, who was diagnosed with Lynch syndrome in 2011, is an advocate, daughter and sister of colon cancer survivors. She choose to have risk reducing surgery and following that experience started writing the I Have Lynch Syndrome website. The website's mission is "to address the possible plethora of emotional implications of a Lynch diagnosis and to encourage those that may at be at high risk to get genetically tested." We are happy to share a blog post written by Georgia for her blog in June 2013.

Christina and I would like to thank Georgia for her support of the #gyncsm community.


How to be happy after a Lynch diagnosis

I got slapped with my Lynch diagnosis on May 17, 2011. I had my radical hysterectomy on June 10, 2011 and spent the last couple years trying to figure out how to reconcile living with this emotional aspects of this genetic monster. I had to undergo lots of therapy, meds, acupuncture, meditation, books, spending time with friends, exercising, and participating in life affirming activities in order to start feeling better.

Lynch is not something you can only fret about during your annual screenings; it’s something that you must be mindful of every day. Most things I do are for my betterment, to improve or sustain my good health, and if it’s not good for me physically or emotionally, then it doesn’t get to be in my life.
Here is my list of things to do to live a happy life following a Lynch diagnosis.

1. Decide what prophylactic measures you will take/or not and then deal with that. I felt the need to take control immediately following my diagnosis and scheduled my hysterectomy. Learn all you can about Lynch; become your own health advocate and get screened religiously.

2.  Think about most things that you put into your mouth. Will it nourish you or eventually end up destroying you? Do you need to alter your diet and include more fruits and veggies and less animal products? Your diet does play a role in cancer’s development. Drink more green smoothies and be sure to incorporate things such as kale, spinach, green apples, green tea, and chia seeds into your diet. Let thy food be thy medicine!

3. Workout at least five days a week. I’ve been running for years but now I need it more than ever; first for the endorphins, second because I want to be as trim and fit as possible. Lift weights –  for me, physical strength holds implications for my mental strength. You must make exercise a priority in your life. Period.

4. Spend time with people who teach you, nourish you, love you, and are willing to listen to you. Get rid of the toxic people in your life – you have enough crap to deal with – eliminate them and make room for more positive people in your life.

5. Spend time cultivating your spirituality. I meditate – a lot, usually for an hour. Pray, meditate, whatever it is that you do and do it more frequently. Talk to yourself and tell yourself that you’re healthy, strong, and that you will not allow for cancer to manifest itself into your body. Breathe deeply. Repeat.

6. Read books about death and happiness. It’s amazing what profound words some books have written in them. I’m partial to Buddhist philosophy; it’s helped me immensely with dealing with my death anxiety. Also, reading about other people’s life issues provides you with perspective on your own life and makes you realize how fortunate you are in many ways.

7. Spend time in nature. Go for a walk, go to the beach, garden, spend more time outside. It works wonders for the soul.

8. Do at least one thing that makes you feel good every day. Period.

9. Cater to your inner child. Do things you’ve always wanted to do and keep putting off. I recently built an eight foot teepee in my basement – I’ve always wanted one since I was a kid. Are you going to wait until you’re sick and old to do them? Do them now.

10. Express gratitude, every day. Count the things that you’re grateful for and remember there is someone always worse off than you.

11. Limit your time on FB Lynch and cancer platforms. They can be highly depressing and cause your optimism regarding your own health to wane. You know you have Lynch and can take preventative measures to fight it; many of those who are suffering from cancer did not know they had Lynch until it was too late. Keep that in mind when reading their stories. You’re one of the lucky ones!

12. Make your home your sanctuary; I have peaceful looking Buddhas about the house, upbeat music playing, candles burning, and flowers in my home. It’s hard to be depressed in a lovely, calm environment.

13. Have something to take care of every day. Adopt a dog or cat from the shelter. Get a fish. Get some plants. Having living things that need to be cared for by you gives you more purpose.

14.  Leave your mark and/or create something. Do something that makes you feel as though you’ve made a difference. You don’t need to win the Noble Peace Prize, but do something you can be proud of; for me it’s been this blog and my advocacy work.

15. Connect with others who have Lynch and are not sick. Just remember, you’re not alone. If you can’t find anyone else, zap me an email, I’d be happy to talk to you.

16. Stop worrying about others in your family and whether or not they’ll be screened. You cannot control anyone but yourself. All you can do is set an example for them.

17. Be happy; if you’re doing every thing you can, exhausting all of your options, getting screened, and taking care of yourself, you should gain some solace from all of this.


And she’s off.
Namaste.
Georgia

Dee
#gyncsm Co-moderator

Wednesday, January 14, 2015

Gynecologic Cancer Risk Factors - Jan 14, 2015 Chat

What an great way to start off the New Year. We had 52 participants and over 1.4 M impressions as we chatted about the risk factors for gynecologic cancers.

“A risk factor is anything that increases a person’s chance of developing cancer.” @cancerdotnet

Some of the topics we discussed included the genetic risks of gynecologic cancers (BRCA, Lynch syndrome, Cowden syndrome), DES (diethylstibestrol) exposure, as well as HPV vaccines and cervical cancer.

You may find a transcript of the chat here.

The questions that guided our conversation were:
T1A: Are you aware of the risk factors for gyn cancers? When did you learn them? How have they influenced your health decisions?

T1B: Providers - Have your patients asked you about risk factors before or after diagnosis?

T2: Viral infections caused by HPV virus raise risk for cervical, vaginal & vulvar cancers. What do women & parents need to know?

T3: What is DES (Diethystibestrol)? How are women exposed to the hormone? What are the risks?

T4: Genetics are thought to account for as much as 25% of some GYN cancers. BRCA has received media attn. What are other genetic risks?

T5: Have you tried to reduce your risk for cancer, recurrence or other cancers? What can women do w/ the info about risk factors?


Be sure to check the resources below for links to information on this month's topic. 

We look forward to having you join us for next month's chat Wednesday, February 11, 2015 at 9pm EST as we discuss Care Beyond Medical Care with @Reimagine_ME .  



Dee Sparacio
Co-moderator



Resources:

Risks:
Risk factors for ovarian cancer  from @cancerdotnet http://www.cancer.net/cancer-types/ovarian-cancer/risk-factors-and-prevention
Risk of #ovariancancer. http://t.co/L1y67jHEnk

Risk factors for cervical cancer from @cancerdotnet
10 Cervical #Cancer Risks You May Not Know About: http://t.co/b2wJQHOcE5

Risk factors for uterine cancers from @cancerdotnet
Risk factors for endometrial cancer from @MayoClinic
Top 10 risk factors for Endometrial cancer: http://t.co/WVWKXMb1I0

Risk factors for fallopian tube cancer @cancerdotnet

Risks for vaginal cancer from @cancerdotnet

Risk for vulvar cancer from @MayoClinic

Risks for GTD @GYNcancer

Risks for #primaryperitoneal cancer @GYNcancer
http://www.foundationforwomenscancer.org/types-of-gynecologic-cancers/primary-peritoneal/risk-factors/

Genetics of Breast & Ovarian via @LguzzardiM http://t.co/peN9EffywH

Prevention:
Cervical Cancer Prevention http://t.co/aC601IE3hK 

DES:
DES Info via @theNCI: http://t.co/mbCZ8znENc
DES Info via @thathealthsite  http://t.co/IaSDmNrjoZ
DES Info via @AmericanCancer: http://t.co/c4v7Qmkgxy
DES sons http://t.co/ExFEnLxVBB

Lynch syndrome:
Lynch syndrome information via @cancerdotnet http://t.co/cVwW8nh9bY

Cowden syndrome:
Cowden syndrome information via @cancerdotnet http://t.co/BiAPXKaMe8

HPV:
HPV Myths & Misconceptions with Fact Sheet http://www.ashasexualhealth.org/stdsstis/hpv/hpv-myths-facts/ [updated link 5/2017]
CDC HPV and cancer http://t.co/03R35ZJeP6
Five Things About HPV Every Woman Should Know http://t.co/ouiehRp69T
What #parents should know about the #HPV vaccine: http://t.co/BCKBHa3ekQ
American Sexual Health Association:
http://www.ashasexualhealth.org/stdsstis/hpv/hpv-cervical-cancer/
http://www.ashasexualhealth.org/sexual-health/ask-the-experts/hpv/
10 Thinks to Know About HPV Fact Sheet http://www.ashapublications.org/ten-things-to-know-about-hpv/

Misc:
High Risk / Previvor resources: @facingourrisk @bebrightpink @sharsheret

Unexpected Gynecologic Malignancy Diagnosed After Hysterectomy Performed for Benign Indications http://t.co/XnToRcdpQS
   
Increased #CervicalCancer Risk Associated With Screening at Longer Intervals. http://t.co/aWG1il5Grd

The Pill and Cancer: What You Should Know via @MDAndersonNews http://t.co/3xJl2DWXVD

Tool - family cancer history (from Myriad) https://t.co/7uOr9oPbTc; 
Tool - family health history (from Surgeon General) https://t.co/czksLcq3dZ

Rick Boulay TEDX talk on cancer bias. https://t.co/BZLYWe8NA3

Wednesday, October 9, 2013

Oct 9,2013 Genetics and Personalized Medicine

Thank you to our moderators and the survivors, caregivers , health care providers and the "lurkers"  who participated in our October chat. Here is a link to the transcript from tonight's  #gyncsm chat.



DAS