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Genetics Related to GYN
Do many of the women in your family seem to have some type of gynecological problem? Do you suspect there may be some inherited factors contributing to these conditions? If so, we have information that may help you determine if your gynecological issues could be related to your genetics.
The building blocks of all living organisms, including humans, are cells. These cells also contain the body?s hereditary information, otherwise known as DNA.
Each woman is a unique individual with her own DNA. Within her DNA is her genetic code, packed into 46 chromosomes which are broken into 23 pairs. One member of each pair is inherited from each parent.
While everyone has the same genes, not everyone has the same gene mutations. When gene mutations occur, they change the gene?s instructions, causing them to perform differently than they should. In some cases, gene mutation leads to health problems. If these mutated genes are passed on to offspring, they too can be affected by the health condition.
Testing positive or negative for a specific gene does not indicate whether or not you have that gene; instead, it indicates you are positive or negative for a mutation of the gene. While being positive for certain gene mutations may indicate a higher risk of certain health issues, it does not guarantee you will have them. Additionally, testing negative may mean you do not have an increased genetic risk for a particular disease or cancer, but it does not eliminate your risk for those conditions.
Genetics and Gynecology
Your genetics could affect when you start menstruation and when you enter menopause. They may also play a role in your risk for certain gynecological conditions and how you manage them. Knowing your family medical history in conjunction with any symptoms you may have can help you and your medical team make better decisions about your health. If multiple members of your family share similar medical problems, talk to your doctor about the possibility of genetic testing. For instance, BRCA 1 and BRCA 2 testing could help you determine your risks for breast and ovarian cancer. Testing can also be done to check for the mutations that may lead to Lynch Syndrome. Working with a genetic counselor could help you determine what testing is best, and may help you make better decisions once you have the test results.
Genetics may play a role in gynecological conditions such as:
- Breast Cancer
- Ovarian Cancer
- Lynch Syndrome
- Polycystic Ovary Syndrome (PCOS)
- Uterine Fibroids
Additionally, there are pregnancy-related concerns that can be linked to genetics. These include:
- Placental abruption
- Gestational diabetes
- Intrahepatic cholestasis of pregnancy
Furthermore, exposure to DES (diethlstibestrol) while in the womb can lead to the following gynecological issues:
- Vaginal adenosis
- Reproductive abnormalities
- Clear cell adenocarcinoma (CCA)
- Cervical intraepithelial neoplasia (CIN)
- Breast cancer
- Pregnancy complications
- Pre-mature menopause
Genetic research is being done for DES granddaughters to determine if gene mutation occurred for their parent who was exposed to DES in the womb. If so, that gene mutation may have been passed on to the DES grandchild.
Birth Defects and Gynecology
Birth defects can occur for a number of reasons including genetic issues. Whether they are hereditary or not, working with a knowledgeable physician can help you achieve the most optimal results if you have been born with a defect affecting your reproductive system. Some of these defects include the following:
- Vaginal problems: a missing vagina, two vaginas, imperforate hymen, or obstruction between the vagina and uterus
- Uterine and cervix problems: deformed uterus (septate, bicornuature, didelphic, or unicornature), absence of the uterus (Mullerian agenesis or Rokitansky syndrome), obstruction of the uterus from the vagina, missing cervix, or extra cervix
- Ovary problems: extra or missing ovary
Find a Genetics MD Counselor
If you are concerned about genetic gynecological cancer risks, put on your brave face and start gathering resources:
- Your personal medical history
- Your family medical history
- A family or GYN doctor
- A Genetics counselor
- A support group of friends and family
Once you've armed yourself with these resources, the next step is vital. Your genetics risk will be your roadmap to making health decisions for you and your children and grandchildren. Be your own best advocate for your personal health now and in the future.
From the Genetics Community Forums
I've seen so many drs this month its crazy. I have heart issues, iron issues, my regular issues due to my gene mutation. It's nuts. I'm 37. ..... [More]
Question on if anyone here is diagnosed w/ EDS and what their experience has been like in relation to their reproductive issues.
Some ba ..... [More]
I found out a few months ago that my mom who was diagnosed with ovarian cancer at 75 is positive so her sisters and kids were all tested (except my br ..... [More]
I got my results back in Aug 2019 that I tested positive for VUS's of ATM, BARD1 and MSH2. I have Lynch syndrome as well as elevated risks for Breast ..... [More]
I am 51 and just had my total hysterectomy + bso this week. I have Lynch syndrome with an MSH6 gene mutation and a strong family history of uterine, c ..... [More]
GYN Genetics Articles
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