Identifying genetic factors in  young women with breast cancer

The challenge:

Early-onset breast cancers, often defined as breast cancer occurring in women aged 18-45 years, account for about 7% of all new female breast cancer cases and approximately 15% of breast cancer deaths. Among early-onset breast cancers, a proportion are diagnosed during or within one year after pregnancy, referred to as pregnancy-associated breast cancer. Treatment for women with a pregnancy-associated breast cancer may be delayed due to fears around the effects on the foetus.

The prognosis for women diagnosed with breast cancer under 45 years can be poor. Despite the discovery of inherited breast cancer risk genes in many breast cancer types, there is limited genetic information about early-onset breast cancer.

Project description:

Prior research led by Professor Ian Campbell at the Peter MacCallum Cancer Centre revealed that individuals with early-onset breast cancer represent a different biological group and their cancers are not just typical breast cancers but are driven by unique genetic factors.

With NBCF funding support, Professor Ian Campbell and his team will use the latest whole genome sequencing technologies (reading the complete DNA code) to analyse and study the DNA of blood samples from over 300 women diagnosed with early-onset and pregnancy-associated breast cancers. This information will be integrated with people’s clinical data to discover new genes that contribute to an increased risk of early-onset breast cancers.

The team will also compare tumour DNA from these younger women with tumours from women diagnosed after age 55 to better understand key differences in how these cancers grow, the genetic changes driving them, and potential weaknesses that could be targeted with more effective treatments.

Potential impact:

Successful outcomes of this study will reveal new genetic factors that are particularly prevalent in early-onset and pregnancy-associated breast cancers. This information will be valuable for improving genetic testing to identify women at risk of breast cancer to improve risk management and uncover potential new therapeutic targets.

Grant code: 2023IIRS0032
Active years: 2024-2027
Scientific project title: Poor outcome breast cancer: Identifying genetic risk factors and new treatments