Background

The PALB2 gene normally protects us from breast cancer. It contains instructions to make a protein that works with the Breast Cancer 1 and 2 (BRCA1 and BRCA2) genes to repair changes in the DNA code and prevent tumours. A gene is a piece of the DNA code that we inherit from our parents. We have over 20,000 genes in all and we inherit two copies of each gene, one from our mother and one from our father. Each gene contains a specific set of instructions to help all the cells in our bodies to develop and function normally.

When a gene like PALB2 is altered (mutated) it may lead to the faulty cell growth and/or function, so someone with a gene alteration has a higher chance of developing certain types of cancer over their lifetime. Someone who inherits the mutated copy of PALB2 gene has an approximately a 30% – 60% chance of developing a breast cancer over their lifetime and a 50:50 (or 1 in 2) risk of handing it on to his or her children, male or female. In addition, there is a small increased risk of developing ovarian cancer, pancreatic cancer and possibly breast cancer in males.

For more information please visit link: https://www.palb2.org/about-the-palb2-gene/

 

Research participation

The Investigating Hereditary Cancer Predisposition (IHCAP) study

Chief Investigator Professor Marc Tischkowitz

The IHCAP study is a broad study aiming to increase our understanding of how genetic conditions lead to complications such as cancer. If you decide to take part, you will be asked to provide some details about yourself and, to the best of your knowledge, about any cancers running in the family. In this study, we may ask you to give a blood sample, saliva sample or (very rarely) a skin sample, which we will use to extract your genetic material (called DNA) to analyse for any alterations/changes in genes that may be link to cancer.

 

Patient benefits of joining PALB2 research study

• Improve understanding of PALB2
• Improve patient outcome, treatment and symptom management for PALB2
• Develop multidisciplinary approaches to predict PALB2 complications for people
• Provide evidence to support treatment guidelines

 

How to register

For further details on how to participate please contact the Study Coordinator Katerina Stroud on phone: 01223 746716 or email: Katerina.stroud2@nhs.net or add-tr.palb2@nhs.net 

To register your interest in participating and to obtain a study recruitment pack (containing an invitation letter, information about the study, a consent form, a family history questionnaire and a pre-paid envelope to return the signed consent form) please email your details to add-tr.palb2@nhs.net