Xin Li

Name: Xin Li

Nationality: Chinese

Academic Background: Cancer

Project Title: Unravelling familial breast cancer factors: New genes, variants and functions

Project Background: Yesterday, 2 women with age of 35 died due to breast cancer. In addition, the clinician claim that these two patients were diagnosed of different mutations. Same thing happens among other patients with breast cancer; they do not always show same mutations or code error in their genome. If human beings are highly sophisticated instruments, genes are the codes that ensure the accurate operation of all parts. This instrument could talk, running, thinking, communicating and breathing happily with help of correct coding.

However, unfortunately, the instrument faces many challenges everyday based on hard core challenging from the damage of the code, the DNA damage from both instrument itself and environment, such as irradiation radiation, UV from sun, alcohol and smoking. As one example, Breast cancer is one of the main causes of cancer-related deaths among women worldwide. About one in eight women will have breast cancer. Moreover, this is a disease could happen in men, breast cancer related deaths were observed among men as well. Unexpectedly, although the tumor happens in breast tissue and could metastasis to other places in human body, it is not a tissue disease; instead, it is a genetic disease or so called code error. To find the original error of this disease, the most important thing is finding the code error and either prevent it from very beginning or treat the suffering patients by correcting these error.

Therefore, what we could do now is, we sequence the patients’ samples and map the error information of their code, and we would study how these errors happen and how to prevent or correct them.

Project Aim: One of the main aim of my project is to study potential novel familial breast cancer gene and to characterize its function and molecular mechanism. The other aim of my project to invent novel tools that can efficiently address and re-classify the variants of unknown significance observed in familial breast cancer patients.

Expected Outcome:  Characterize the new gene functions in breast cancer and develop novel tools to classify varians pathogenicity in familial breast cancer patients.

Contact: Xin.Li@bric.ku.dk