Day 22 A Month of Teal: Gene Mutations and Ovarian Cancer

Most ovarian cancers are sporadic. They are caused by somatic mutations.

But about 20 to 25 percent of women diagnosed with ovarian cancer have a hereditary tendency to develop the disease. This tendency is called Hereditary Breast and Ovarian Cancer Syndrome (HBOC). HBOC may be diagnosed if your family history shows multiple members of the same side of your family being diagnosed with breast and/or ovarian cancer.
Cancer.net lists these situations as indicative of HBOC

• 1 or more women are diagnosed at age 45 or younger
  
• 1 or more women are diagnosed with breast cancer before age 50 with additional family history of cancer, such as prostate cancer, melanoma, and pancreatic cancer
  
• There are breast and/or ovarian cancers in multiple generations on the same side of the family, such as having both a grandmother and an aunt on the father’s side both diagnosed with these cancers
  
• A woman is diagnosed with a second breast cancer in the same or the other breast or has both breast and ovarian cancers
  
• A male relative is diagnosed with breast cancer
  
• There is a history of breast cancer, ovarian cancer and/or pancreatic cancer on the same side of the family
  
• There is a history of breast and/or ovarian, pancreatic, or male breast cancer in a family of Ashkenazi Jewish ancestry
  

What germline mutations are linked to Hereditary Ovarian Cancer?
"Between 65 and 85 percent of germline mutations are in the BRCA1 or BRCA2 gene. The lifetime risk of ovarian cancer in women with a BRCA1 gene mutation is 40 to 60 percent, and the lifetime risk in women with a BRCA2 gene mutation is 20 to 35 percent."

"A significantly increased risk of ovarian cancer is also a feature of certain rare genetic syndromes, including a disorder called Lynch syndrome. Lynch syndrome is most often associated with mutations in the MLH1 or MSH2 gene and accounts for between 10 and 15 percent of hereditary ovarian cancers."

Are there other mutations linked to  ovarian cancer? 
Yes, other mutations  include:

• AKT1
• BARD1
• BRCA1
• BRCA2
• BRIP1
• CDH1
• CHEK2
• CTNNB1
• MLH1
• MRE11
• MSH2
• MSH6
• NBN
• OPCML
• PALB2
• PIK3CA
• PMS2
• PRKN
• RAD50
• RAD51C
• RAD51D
• STK11
• TP53 Li-Fraumeni Syndrome (LFS)

Source:NIH  https://ghr.nlm.nih.gov/condition/ovarian-cancer#genes  

It is recommended by the Society of Gynecologic Oncology that all women diagnosed with ovarian cancer have genetic testing. (https://www.sgo.org/wp-content/uploads/2012/09/PB-182.pdf)
The SGO also has available a Genetics Toolkit 2016  online.

Additional information on HBOC may be found on the FORCE website http://www.facingourrisk.org/index.php 

My next post for Ovarian Cancer Awareness Month will be on Monday Sept 25th. 

Dee
Every Day is a Blessing! 

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!