Active not recruitingNAINTERVENTIONAL

Investigation of Tumour Spectrum of Germline Mutations in Breast and Ovarian Cancer Genes.

The TUMOSPEC study is looking into new genes that might increase the risk of breast and ovarian cancer. If you are already having genetic testing for the BRCA1 and BRCA2 genes, you may be invited to take part. Researchers will test for 24 other genes at the same time. If a change is found in one of these genes, you, your close family members (like parents, siblings, children, aunts, uncles, and cousins), will be asked to provide a saliva sample and fill in a health questionnaire. The aim is to understand how these newly identified gene changes affect cancer risk and why some people develop cancer while others with the same gene change do not. This will help doctors give better advice to families about their cancer risk.

At a glance

Status

Active not recruiting

Phase

Sponsor

UNICANCER

Enrolment target

7,274

Start

21 Sep 2017

Estimated completion

31 Dec 2025

Hereditary Breast and Ovarian Cancer Mutation

What is this study about?

This study, called TUMOSPEC, is about understanding more about breast and ovarian cancer, especially in families where these cancers seem to run. We already know about genes like BRCA1 and BRCA2, which can increase the risk of these cancers. But scientists believe there might be other genes that also play a role.

If you are already scheduled to have genetic testing for BRCA1 and BRCA2 – perhaps because of your family history of cancer – you might be asked to join this study. If you agree, along with your usual BRCA tests, doctors will also check for changes in 24 other genes. The main goal is to find out how strongly these other gene changes are linked to developing breast and ovarian cancer.

By gathering information from many families, researchers hope to get a clearer picture of how these genes affect cancer risk. This knowledge could help doctors in the future to better understand who is at higher risk, offer more personalised advice, and potentially improve ways to prevent or detect cancer early. This particular stage of the study is a smaller pilot to make sure everything works smoothly before the main, larger study begins.

Key takeaways

Looking into new genes linked to breast and ovarian cancer.
Part of a larger effort to understand cancer risk in families.
Involves genetic testing and health questionnaires.
Aims to improve future cancer prevention and care.
Participation is voluntary and confidential.

Who may be eligible?

This study is for adults aged 18 and over, up to 75 years old.

You might be invited to join if you are already having a genetic test for BRCA1 and BRCA2 genes because your doctors think it's important for your care. If a specific gene change is found in you, then your close family members (like your parents, siblings, children, aunts, uncles, and cousins) might also be invited to take part across generations, whether or not they've had cancer.

However, you cannot take part if you are under 18 or over 75, if you are unable to freely give your consent (for example, if you are under certain legal protections), or if you can't complete the health questionnaire for social or psychological reasons. Children of anyone already in the study are not included.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Are you 18 to 75 years old?
Are you already scheduled for BRCA1/BRCA2 genetic testing?
Can you complete a health questionnaire?
Are you able to freely agree to take part in a study?

Answer every question to see your result.

What does participation involve?

If you decide to take part, and if a gene change is found in your genes, you will be asked to invite some of your family members to participate. Both you and your family members would then be asked to provide a saliva sample. This sample will be used to check for the specific gene change found in your family. You will also be asked to complete a questionnaire about your health history and lifestyle. There are no extra hospital visits required for this study beyond your usual appointments. The study team will guide you through each step. The overall commitment would involve providing a sample and completing the questionnaire, with no medication involved in this research.

Potential risks and benefits

Taking part in this study may not directly benefit you, but the information collected will help us learn more about hereditary breast and ovarian cancer, which could help future patients and families. You might learn about a gene change that increases your cancer risk, which could be worrying. There is a small chance your privacy could be affected, but strict measures are in place to protect your information. You are free to withdraw from the study at any time without giving a reason, and this will not affect your medical care.

Locations (2)

Gustave Roussy
Verified postcode
Paris, France
Institut Curie - PIGE
Verified postcode
Paris, France

Common questions

What is genetic testing?

Genetic testing is a type of medical test that looks for changes in your genes that might increase your risk of certain health conditions, like cancer.

What are BRCA1 and BRCA2 genes?

BRCA1 and BRCA2 are genes that normally help your body fight cancer. If there's a change or 'mutation' in these genes, it can increase your risk of breast, ovarian, and some other cancers.

Will this study tell me if I have cancer?

No, this study is not designed to diagnose cancer. It's about understanding gene changes that might affect your risk of cancer. Any cancer concerns should be discussed with your doctor.

Do I have to pay to take part?

No, there are no costs to you for taking part in this research study.

How will my personal information be kept safe?

All your medical and genetic information will be stored securely and confidentially, with strict privacy measures in place to protect your identity.