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Three-year study to enhance cancer genetics testing for Asian women
Joint study between cancer researchers and genomic medicine company to expand clinical database that classifies breast and gynaecological cancer mutations in Asian women across all ethnicities.

The National Cancer Centre Singapore (NCCS) and Lucence Diagnostics will collaborate on a three-year study involving 300 patients to improve genetic testing of breast and gynaecological cancers for Asian women.

This study aims to develop a comprehensive database of genetic mutations, or variants, that are associated with hereditary breast and gynaecological cancers across all ethnicities in the region. This will help doctors to more accurately identify women who may be predisposed to breast or gynaecological cancer through genetic testing. It will also lead to enhanced clinical diagnosis and more precise treatments.

This clinical database will be the first to focus on the Asian populations and will be an invaluable resource for doctors and genetic counsellors attending to high-risk individuals of two of the most common women’s cancers in Singapore. Breast cancer is the leading cancer among women across all ethnic groups. It is diagnosed in almost one in three women here and is the leading cause of cancer deaths. Ovarian cancer, a type of gynaecological cancer, accounts for the fifth most common cancer among women.

The partnership will leverage on NCCS’ expertise in expanding the database for classification of variants for clinical use, and Lucence’s expertise in DNA sequencing and genomic data analysis. This study is supported by the A*STAR Industry Alignment Fund – Industry Collaboration Projects (IAF-ICP) grant of close to S$1.5 million.

In this collaboration, Lucence will obtain blood samples from 300 patients with a personal or family history of breast and/or gynaecological cancer, or early onset of breast cancer. Upon extracting the DNA from the samples, a DNA sequencing technology known as “next-generation sequencing” (NGS) will be performed. Genetic variants that are identified from NGS will be evaluated for cancer risks. NCCS will then construct a database of all the identified variants incorporating information from its existing database, for the classification of variants for clinical use. This study is expected to be completed in three years’ time.

The team hopes to use these data to develop better services for the early detection and prevention of cancer among women who are at high risk due to their family history. The data would also be helpful to determine if a patient may respond better to specific targeted therapy rather than standard chemotherapy which has undesirable side effects.

There is also great potential to use the same pipelines for other Asian hereditary cancers, such as colorectal cancer.

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