What is it about?
Neurofibromatosis type 1 (NF1) moderately increases lifetime risk for breast cancer to 18%. Other co-existing genetic factors may have helped to enhance the risk. This is a small sample sized study and is the first comprehensive genomic study exploring such factors. This study also illustrated the types of NF1 mutations found in these women.
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Why is it important?
The individualized cancer screening strategy is better designed according to the level of risk. Many genetic factors influence the real life risk of breast cancer. The type of the gene mutations and other genetic variants are the important factors. This study confirms the lifetime risk of 18% in women with NF1. This study did not identify any other high risk genetic factors coexisted with a defective NF1 gene in these women who developed breast cancer. However, a great variety of low influential factors may have enhanced the risk conferred by NF1 gene mutations.
Perspectives
Exploring the precise chance of developing a cancer and the comprehensive causes for certain type of cancer can be a daunting task. However, evidence needs to be searched and accumulated before a real breakthrough becomes possible. We should make the findings available to all the researchers and publics even though the study has a small sample size or has not found the target.
Xia Wang
H. Lee Moffitt Cancer & Research Insitute
Read the Original
This page is a summary of: Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer, Genes Chromosomes and Cancer, September 2017, Wiley,
DOI: 10.1002/gcc.22503.
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