Does being a carrier mean I’m going to get cancer?


You owe your parents a lot, from the color of your eyes to the values ​​they teach you. But your health can also be a part of their legacy, with certain genes making you more likely to develop diseases such as cancer.

Scientists are still learning about the role inherited genetic defects play in disease, but the information we already have may give families affected by cancer the chance to change the course of their future.

“It’s scary to be told that you were born with a higher than average risk of cancer in your lifetime,” says Jo Stanford, cancer prevention manager for Ovarian Cancer Action. “But that knowledge means you’re right at the front of the line for referrals, screenings, and risk reduction options.

“My mother passed away from ovarian cancer and I felt very helpless.

“Finding out that I had inherited a genetic defect allowed me to regain control and that will be another story for my children from now on. “

How can cancer be in my genes?

Your genes are an instruction manual for your body to make proteins, the building blocks of life.

All cancers develop because something is wrong with one or more genes in a cell, causing it to divide and grow uncontrollably.

The vast majority of these faults are due to factors such as your age or your lifestyle. But a small proportion is hereditary.

“When you have a blemish, it’s like having a spelling mistake in the instructions so your body can’t do its job as well,” says Jo.

“But it’s important not to panic, because only five to 10 percent of all cancer cases have an inherited component.”

The ovary, breast, prostate, pancreas, and intestine are some of the types you may be more likely to have if you have a mutation, but lifetime risk levels vary between cancers and carriers.

What are the genetic defects?

There are two main types that we know of so far – the BRCA mutation and Lynch syndrome.

We all carry BRCA genes, also known as tumor suppressors, and their job is to repair cell damage and prevent cells from growing and dividing too quickly. But some families have flaws in the BRCA1 and BRCA2 genes that make them less efficient.

About one in 400 to 800 people are thought to carry these defective genes, but this figure is significantly higher for people of certain origins, such as Ashkenazi Jews.

The BRCA mutation has a strong link to breast and ovarian cancer, but it’s just as important for men to know if they have it as for women.

Ovarian cancer may be in the genes


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This is because it also increases the risk of prostate and pancreatic cancers, while fathers can pass the fault on from generation to generation.

Lynch syndrome is an umbrella term for mutations in a group of genes that are expected to repair DNA damage when cells divide – MLH1, MSH2, MSH6, and PMS2.

They are most strongly linked to bowel cancer, but can also increase the risk of a number of other types, including the ovaries, uterus, and stomach. The prevalence of Lynch syndrome is still under investigation, but it could be as common as in one in 125 people, according to the World Health Organization.

Unfortunately, knowledge of these genetic defects is low – only 25 percent of the public has heard of BRCA, falling to 16 percent for Lynch, according to Ovarian Cancer Action.

More worryingly, only 5% of Lynch carriers are thought to know they have it, while only 16% of general practitioners are aware of the syndrome.

How do I know if I am a carrier?

If one of your parents has a BRCA mutation or Lynch syndrome, there is a 50% chance that you are too.

You only need to inherit one defective copy to have an increased risk of cancer and this can be confirmed with a blood test. But because the tests are relatively new and spotty, most of us don’t know if these mutations are hidden in our DNA.

Looking at your family history is the best indicator of whether you should consider screening.

Jo says, “A blood relative with cancer is unlikely to be a red flag to make you eligible, but it depends on the type.

“Usually you have to have two or three parents with specific cancers.

“I would recommend compiling a family tree listing all cancers and health issues on both sides.

“Then put that information into the Hereditary Cancer Risk Tool on our website to see if you could meet the benchmarks.

“It also gives you an impression with the information your doctor will need and the NICE guidelines.”

Anyone referred for testing on the NHS will be able to access a before and after genetic counselor, who can explain the process, your personal risk factors and how to inform loved ones of a diagnosis.

If you’ve had bowel or uterine cancer, or are under treatment for either, doctors should screen your tumor for signs of Lynch.

Jo recommends continuing if they haven’t.

Does being a carrier mean I’m going to get cancer?

No. Nothing is inevitable and having the knowledge means you can take steps to reduce the risk.

“Our generation is the first to be able to use this information and it’s exciting to be able to do so,” explains Jo.

While people with Lynch have seen their lifetime risk of developing bowel cancer drop from 5.5% to 80%, knowing that you have this predisposition can mean the difference between life and death.

You will be aware of symptoms of concern, regular screenings will be offered to detect any changes, and you can make lifestyle changes to protect your health.

Bowel cancer is common in men


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Regular colonoscopies for Lynch carriers can reduce the risk of dying from bowel cancer by 72%.

There are also options for risk reduction surgery, such as mastectomies and elective hysterectomies, while carriers without children can access a form of embryo screening that checks for BRCA and Lynch mutations on the NHS, called PGT. -Mr.

Jo – who opted for preventive surgery when she was in her thirties – says: “These are not easy choices. It’s scary to have body parts removed, it can be lonely and it’s not the right decision for everyone.

“But for those of us who have lost a loved one to cancer, the opportunity to take back the power and say ‘it ends with me’ is wonderful.”

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