This is an automatically translated article.
Genetic testing uses saliva or blood to evaluate and analyze the patient's DNA. Genetic testing helps detect mutations or changes in a single gene (or several genes) in patients and families at high risk of developing cancer. This article will provide information on some of the mutations and genetic tests commonly used in screening and supporting the diagnosis of uterine and ovarian cancer.
1. What is Gynecological Cancer?
Gynecological cancer is cancer that occurs in the female reproductive organs such as the uterus (endometrium), ovaries, cervix, fallopian tubes, vagina, or vulva. Two types of cancer that are often inherited are endometrial cancer and ovarian cancer. Endometrial cancer is also known as uterine cancer. The endometrium is the innermost lining of the uterus, with one ovary on each side of the uterus. The ovaries are the glands where eggs form and where the female hormones progesterone and estrogen are made.
Many patients wonder if gynecological cancer is hereditary? In fact, family history is an important part of gynecological cancer risk. Therefore, it is extremely important to inform your doctor about your family history. This will help determine when and what genetic tests are needed to screen and evaluate the disease. Up to 5-10% of endometrial cancers and 25% of ovarian cancers are hereditary. Hereditary cancers occur when changes or mutations in genes are passed on from mother to child. However, just because there is a family history of cancer does not mean that you will definitely get cancer. Testing for genetic mutations is one way to determine your risk of developing cancer.
2. What are the types of mutations associated with gynecological cancer?
Gene mutations are errors in the genetic code of a gene. People with genetic mutations may have a higher than normal risk of certain cancers. Some families have genetic mutations that increase the risk of gynecological cancer. Here are some gene mutations associated with endometrial and ovarian cancer:
2.1 Gene mutations linked to endometrial cancer Mutations in the MLH1, MSH2, MLH3, MSH6 genes TGBR2, PMS1, PMS2. These gene mutations are part of a cancer syndrome called hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch Syndrome. This syndrome increases the risk of colorectal cancer, but also increases the risk of developing endometrial cancer, ovarian cancer, stomach cancer, and some other cancers. Women with this syndrome have up to a 70% risk of developing endometrial cancer at some point.
2.2 Ovarian Cancer-Related Gene Mutations BRCA1 and BRCA2: These gene mutations cause Hereditary Ovarian and Breast Cancer Syndrome (HBOC). This syndrome is associated with a higher risk of ovarian cancer, breast cancer, fallopian tube cancer, and primary peritoneal cancer. There is also an increased risk of certain other cancers, such as pancreatic cancer and prostate cancer (only men have a prostate). Most hereditary ovarian cancers are caused by mutations in the BRCA1 and BRCA2 genes. A mutation in the BRCA1 gene increases a woman's lifetime risk of ovarian cancer by 35% to 70%. A mutation in the BRCA2 gene increases a woman's lifetime risk of ovarian cancer by 10% to 30%. Women in the general population without the gene mutation have a less than 2% risk of developing ovarian cancer.
MLH1, MSH2, MSH6, PMS2, and EPCAM: These gene mutations are part of a cancer syndrome known as hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch Syndrome. Women with this syndrome have up to a 10% risk of developing ovarian cancer at some point.
STK11: This gene mutation causes a rare genetic syndrome called Peutz-Jeghers syndrome. This syndrome causes tumors in the stomach and intestines during adolescence. People with this syndrome have a higher risk of certain cancers, including cancers of the stomach, esophagus, colon, and small intestine. Women with this syndrome have a higher risk of ovarian cancer.
MUTYH: This gene mutation also causes polyps in the colon and small intestine. People with this gene mutation have an increased risk of colon, ovarian, and bladder cancers.
ATM, BRIP1, RAD51C, RAD51D, and PALB2: These genes are associated with ovarian, breast, and pancreatic cancer.
3. Who should get genetic testing for cancer?
Genetic testing is a method of using saliva or blood to evaluate and analyze a patient's DNA. Genetic testing can detect mutations or changes in a single gene/gene. In a family with a history of ovarian or endometrial cancer, the first step is genetic testing of a family member who has had one of these cancers. If the person is found to have a harmful gene mutation, other family members may be tested to see if they have the same mutation. If you're worried you or your family may have a harmful gene mutation, you should talk to your doctor. Genetic specialists will discuss the risks and benefits of genetic testing, review the results, and possibly make cancer screening and prevention recommendations. You should schedule an appointment with a genetic counselor if you have the following:
Family history of high-grade breast, ovarian or endometrial cancer. Family history of moderate breast, ovarian, or endometrial cancer and of Ashkenazi or Eastern European ancestry (visit CDC.gov website to assess family history of cancer gynecological). Personal history of breast cancer and meeting certain criteria (related to age at diagnosis, type of cancer, presence of certain other cancers or cancer in both breasts, family history) ). Personal history of ovarian, fallopian tube, or primary peritoneal cancer. BRCA1, BRCA2 mutation, or other genetic mutation in the family. In addition, your doctor may also recommend that you have genetic testing even if you don't have a family history of cancer. The Society of Gynecological Oncology (SGO) has recommended that all women diagnosed with ovarian or endometrial cancer receive genetic counseling, regardless of family history.
If the genetic test result is positive, don't worry too much. The results show that the patient has mutations that increase the risk of cancer but does not mean that the patient will definitely get cancer. There are a number of measures that can be taken to reduce the risk of cancer. For example, medication, surgery to reduce risks or simply healthy lifestyle changes: quit smoking, alcohol, maintain a healthy weight through a balanced diet and physical activity regular substance. Patients should consult their doctor for specific advice.
To help customers detect and treat gynecological diseases early, Vinmec International General Hospital has a basic gynecological examination and screening package, helping customers detect early inflammatory diseases for treatment. easy, inexpensive. Screening detects gynecological cancers early even when there are no symptoms.
When registering for the Basic Gynecological Examination and Screening Package, customers will receive:
Gynecological examination; Transvaginal ultrasound of the uterus and ovaries; Bilateral breast ultrasound; Tests such as: Treponema pallidum rapid test, Chlamydia rapid test, taking samples for cervical-vaginal cytology, bacterial staining (female vaginal fluid), HPV genotype PCR automated system; Total urinalysis by automatic machine. All procedures are performed by a team of experienced doctors, combined with modern machinery, so patients can be assured of the test results.
Please dial HOTLINE for more information or register for an appointment HERE. Download MyVinmec app to make appointments faster and to manage your bookings easily.
