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Gynecologic Genetics


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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.


Genetics 101

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:

  • Endometriosis
  • 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:

  • Pre-eclampisa
  • 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
  • Infertility
  • 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

Lynch Syndrome: HRT risks and benefits?? 10 days post prophylactic hysterectomy and BSO
by Summer844
Hi everyone, I'm new here. I feel completely overwhelmed and worried about what I should do, now that I've had my hysterectomy. What I thought was o ..... [More]

Ehlers Danlos & hysterectomy vs ablation
by Ltosca91
Hi. I am a new member and also (very) newly diagnosed Ehlers Danlos type 3 and waiting for results to see if I also have other types. This condition ..... [More]

Uterine cancer, Lynch Syndrome... what to do about HRT?
by KCLYNCH
I am 36 and I underwent a full abdominal hysterectomy and BSO in November of 2016. I was confirmed positive for Lynch Syndrome and was later diagnosed ..... [More]

Lynch syndrome, but still young.
by CFahr29
Hello, I am 26 years old and was just told a week I have Lynch Syndrome. I'm seeing my family doctor Wednesday and an oncologist the 26th. I'm really ..... [More]

Anyone ATM positive??
by aloha67
Just had a total hysterectomy. Considering prophylactic mastectomy with reconstruction due to ATM gene mutation. My older sister is also positive. M ..... [More]

GYN Genetics Articles


12 Potential Health Risks from DES Exposure
BRCA Information
BRCA Previvor
BRCA | Testing Negative
BRCA | Testing Positive
BRCA+ and Prophylactic Salpingectomy
Cervical Cancer | Is It Hereditary?
DES (Diethylstibestrol) Information
DES After 1971
DES and Breast Cancer
DES and Cancer
DES and Hormones
DES and Vaginal Adenosis
DES Daugther
DES Granddaughter
DES | Brand Names
DES | Health Risk for DES Mothers
DES | Minimizing Risks
DES | Was I Exposed?
Endometriosis and Genetics
Family History of Cancer | Being Proactive
FORCE: Facing Our Risk of Cancer Empowerment
Genetic Counselor
Genetic Testing | At-home Kits
Genetic Testing | Choosing Not to Be Tested
Genetic Testing | Deciding If I Should Be Tested
Genetic Testing | Preparation
Genetic Testing | What Do I Need to Know?
Hereditary Cancer vs. Genetic Cancer
Lynch Syndrome Information
Lynch Syndrome | Colonoscopies
Lynch Syndrome | Testing Positive
Lynch Syndrome | When to Consider Testing
Melanoma and Genetics
MTHFR Gene Mutation Information
Prophylactic Surgery
Resources | Fact or Fiction


Genetics Videos

Dr. Aileen Caceres answers questions about hereditary c...

Dr. Aileen Caceras answers questions about Lynch Syndro...

Dr. Aileen Caceres answers questions about BRCA testing...

ALL GYN Genetics - Hereditary Cancers Videos

Page Created at 09-17-2013 - 05:23 AM, Last Modified 02-25-2015 - 10:44 AM
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