INHERITED CANCERS RESEARCH THEME

Our inherited cancers theme focuses on identifying the earliest signs of cancer development in people with genetic cancer predisposition, helping to improve personalised approaches to assessing risk.

THEME OVERVIEW

Icon showing a person and some DNA, indicating inherited cancers.

People with hereditary cancer predisposition (HCP) have a much higher lifetime risk of cancer than the general population. Early detection and timely intervention are vital to improve survival.

HCP populations offer a unique opportunity to study the earliest biological changes before cancer develops, generating insights that can inform early detection strategies for the wider population.

As individual HCP conditions are rare, this research requires large-scale, international collaboration, something the International Alliance for Cancer Early Detection (ACED) is uniquely positioned to provide.

RESEARCH AIMS AND EXPECTED OUTCOMES

  • Create a cross-alliance HCP database to map existing hereditary cancer cohorts, harmonise practices and guide future sample collection.

  • Improve personalised risk stratification, addressing inherent bias across diverse and rare HCP populations, including children and young people.

  • Develop biological models to characterise the earliest events in tumour initiation and identify biomarker candidates.

  • Understand public and patient perspectives on early detection approaches in diverse HCP communities.

KEY CONTACTS

Dr Emma Woodward.

Emma Woodward

The University of Manchester ACED Centre Deputy Director

Inherited cancers research theme Co-lead

Emma is a Consultant Clinical Geneticist at the Manchester Centre for Genomic Medicine, specialising in hereditary cancer predisposition, with expertise in children and young people's cancer predisposition and hereditary breast cancer. She is an Honorary Senior Clinical Lecturer at The University of Manchester and Children's Research Lead for the NIHR Manchester Biomedical Research Centre.

Professor Sapna Syngal.

Sapna Syngal

Dana-Farber Cancer Institute (DFCI) ACED Centre Deputy Director

Inherited cancers research theme Co-lead

Sapna is Professor of Medicine at Harvard Medical School, Director of Research for the Division of Cancer Genetics and Prevention and co-Director of the Centers for Early Detection and Interception at DFCI. Her research involves development of research, clinical and training programmes for genetics, screening, and prevention of gastrointestinal malignancies.

Professor Timothy Rebbeck.

Timothy Rebbeck

DFCI ACED Centre Director

Inherited cancers research theme Co-lead

Inequalities research theme Co-lead

Timothy is the Vincent L Gregory Professor of Cancer Prevention and Director of the Zhu Family Center for Global Cancer Prevention at the Harvard TH Chan School of Public Health and DFCI. His primary research interests are in cancer genetics and molecular epidemiology, prevention, early detection, and addressing health disparities in high-risk populations.

Lydia Conley.

Lydia Conley

DFCI ACED Centre Programme Manager

Lydia plays a key role in both the inequalities and inherited research themes and provides operational support for the ACED centre at DFCI.

Martin Bone.

Martin Bone

The University of Manchester ACED Centre Programme Manager

Martin oversees both the inequalities and inherited research themes, and provides operational support for the ACED centre at The University of Manchester.

Contact Martin about this research theme

People with inherited cancer predisposition have high risks of cancer, often in multiple organs. Our group focuses on developing new strategies to identify these groups, stratify risk and understand the biology of cancer progression. We want to apply these strategies where they can have the highest impact, to detect cancer early and prevent it in these high-risk individuals.

- Sapna Syngal, ACED inherited cancers research theme Co-lead and DFCI ACED Centre Deputy Director

OUR RESEARCH PRIORITIES

Our research focuses on improving how inherited cancer risk is understood and predicted. We study HCP across diverse ages, backgrounds and presentations to ensure personalised risk predictions are accurate and inclusive.

The theme brings together expertise from a wide range of disciplines including clinical cancer genetics, risk prediction, data science, bioinformatics, clonal evolution and cell biology.

OUR APPROACH

How we deliver this research

Our research draws on shared hereditary cancer datasets, samples and expertise from across the Alliance, enabling robust, diverse and harmonised studies. Cohort and data‑linkage approaches allow us to follow individuals with HCP over time, combining healthcare, clinical and genomic information to refine risk models and deepen understanding of early cancer development.

To reveal the earliest biological changes that contribute to tumour initiation, we're using a combination of genomic, spatial and immunological analyses. Alongside this, we will assess promising biomarkers, liquid biopsies and emerging early detection tools in real‑world HCP populations to understand their performance, acceptability and potential impact.

Patient and public involvement and engagement (PPIE)

Our research is guided by patients and the public, ensuring that our approaches remain practical and appropriate for all participants. Our PPIE champions support this work, helping to guide the design and delivery of the inherited cancers research theme.

EXPLORE OUR OTHER RESEARCH THEMES