Cervical Cancer and Its Genetic Involvement

Introduction

In the past, cervical cancer used to be a significant cause of death among women. Nowadays, medical advancements allow doctors to detect and treat cervical cancer much earlier. Regular Pap tests are crucial for identifying abnormal cells in the cervix, which can be removed before they develop into cervical cancer. Therefore, it is essential to undergo screenings regularly and be aware of the risk factors for cervical cancer. Having a mother or sister who has cervical cancer can increase the risk, although it is uncommon for cervical cancer to be directly inherited within families. Instead, similarities in living environments often mean that family members share similar risk factors.

What Is Cervical Cancer?

Cervical cancer begins when cells in the cervix grow abnormally. The cervix is the lower part of the uterus connected to the vagina. Most cervical cancers are caused by certain types of the human papillomavirus (HPV), a common sexually transmitted infection. Normally, the body's immune system fights off HPV, but in some cases, the virus can persist for years, causing the development of cancer cells in the cervix. One can lower the risk of cervical cancer by undergoing screening tests and getting vaccinated against HPV. If cervical cancer does occur, treatment usually starts with surgery to remove the cancer. Other treatment options may include medications to kill cancer cells, such as chemotherapy and targeted therapy drugs, as well as radiation therapy using powerful energy beams. In some cases, a combination of radiation and low-dose chemotherapy may be used for treatment.

What Genetic Connections Exist With Cervical Cancer?

Having a mother or sister who has cervical cancer can raise the risk of getting it, too. But this does not mean cervical cancer is always inherited. The main types of cervical cancer, squamous cell, and adenocarcinoma, are not caused by genetics. However, certain rare types might be influenced by genetic factors:

• Damage to the DICER1 gene increases the risk of a rare type called embryonal rhabdomyosarcoma.

• Peutz-Jegher syndrome (PJS) raises the risk of other cancers more than cervical or ovarian.

Some inherited factors, like faulty immune response genes and DNA repair genes, might also make it harder to fight HPV, increasing cervical cancer risk.

In families, shared lifestyle or environmental factors often play a bigger role than direct inheritance. For example, if mothers took diethylstilbestrol (DES) during pregnancy, both daughters might share that risk. DES was used from 1940 to 1970 to prevent miscarriages.

Generally, it is uncommon for mothers to pass cervical cancer to their daughters. If one is worried about family risk, genetic testing can help identify associated genes, and controlling other risk factors, like lifestyle choices, can reduce cervical cancer risk for the patient and family.

Why Does a Doctor Recommend Genetic Testing if They See a Pattern of Specific Cancers in a Family?

If doctors notice a pattern of certain cancer types among family members, they might suggest extra screenings or hereditary cancer testing. This can help identify genetic trends or cancer risk factors. Having a risk factor for cervical cancer does not guarantee someone will get the disease, but it means they have a higher chance of developing it. There are two main genetic risk factors for cervical cancer:

• DICER1 Syndrome: This rare genetic condition involves changes in the DICER1 gene. It increases the risk of certain cancers in children and young adults. Variations in the DICER1 gene can raise the risk of a rare type of cervical cancer called cervical embryonal rhabdomyosarcoma (ERMS), as well as other cervix sarcomas. While many DICER1-related issues appear in childhood, about one-third of cervical ERMS cases occur in people over 20.

• Peutz-Jeghers Syndrome (PJS): PJS is a genetic condition affecting a gene called STK11, suppressing tumors. It leads to the formation of benign growths known as polyps in the gastrointestinal tract and raises the likelihood of developing specific cancers, such as cervical cancer.PJS might also be linked to some rarer cancer types, like minimal deviation adenocarcinoma (MDA), which accounts for about one to three percent of cervical adenocarcinomas.

What Are the Symptoms of Cervical Cancer?

Individuals with early-stage cervical cancer often do not notice any signs or symptoms. However, doctors can still detect it early through screening tests, highlighting the importance of regular screenings. Symptoms of cervical cancer typically appear once the cancer has grown or spread. The most common symptoms include:

• Abnormal vaginal bleeding, including bleeding following sexual intercourse, douching, occurring between menstrual cycles or after menopause, as well as unusually prolonged or heavy menstrual periods.

• Abnormal vaginal discharge, possibly containing blood.

• Pain during sex.

• Pelvic pain.

While these symptoms can also indicate other conditions, individuals experiencing any of them should seek medical attention for a cervical exam.

What Are the Other Risk Factors for Cervical Cancer?

Various factors have been studied as risks for cervical cancer, with many showing stronger connections than genetics. These include:

• Human Papillomavirus (HPV) Infection: HPV, the most common sexually transmitted infection, is a major risk factor for cervical cancer. However, not all HPV strains are linked to cervical cancer, and vaccination can prevent those associated with higher risk.

• Other Sexually Transmitted Infections (STIs): Genital herpes and chlamydia are also associated with increased cervical cancer risk.

• Exposure to Diethylstilbestrol (DES): Women whose mothers took DES during the pregnancy have a higher risk of cervical cancer, emphasizing the importance of regular screenings.

• Weakened Immune System: Females with weakened immune systems due to medications or health conditions face an elevated risk of cervical cancer.

• Smoking: Smoking significantly raises the risk of cervical cancer.

How to Prevent Cervical Cancer?

Below are some preventive measures individuals can take to help lower their risk of developing cervical cancer:

• HPV Vaccine: Getting vaccinated against HPV may offer protection against the types of HPV linked to cervical, vaginal, and vulvar cancers. The CDC recommends the HPV vaccine for individuals up to age 26. Those aged 27 to 45 should consult a doctor to assess vaccination's risks and potential benefits.

• Cervical Screening: Regular screening for cervical cancer through exams, Pap smears, and HPV tests every three to five years is advisable. Screening can detect precancerous cervical cells early, enabling timely treatment to prevent cancer development. Early-stage cervical cancers can also be detected and treated promptly, improving prognosis.

• Changing Sexual Behaviors: Certain sexual behaviors can increase HPV transmission risk. Strategies such as avoiding sex or having sex with fewer partners, consistent condom use, and regular STI testing may help reduce HPV risk. While these changes do not guarantee prevention, they can lower the risk.

• Quitting Smoking: Quitting smoking and tobacco use, regardless of duration, may decrease the risk of various cancers, including cervical cancer.

Conclusion

In conclusion, cervical cancer, once a significant cause of death among women, can now be detected and treated earlier, thanks to medical advancements. Regular screenings, understanding risk factors and preventive measures such as the HPV vaccine and cervical screening play crucial roles in decreasing the risk of developing cervical cancer. Additionally, identifying genetic risk factors through hereditary cancer testing can provide valuable insights for early intervention. By taking proactive steps and addressing potential risk factors, individuals can significantly lower their chances of developing cervical cancer and improve their overall health outcomes.