Professor Xie Yuntao's team published a contralateral breast cancer risk prediction model for BRCA mutation patients in JCO

On December 8, 2022, the team of Professor Xie Yuntao of Peking University Cancer Hospital was published in the internationally renowned Journal of Clinical Oncology Published online titled "BRCA-CRisk: A contralateral breast cancer risk prediction model for BRCA carriers.
" Research papers
.
The study established a clinical predictive model for assessing the risk of contralateral breast cancer in patients with BRCA1/2 mutant breast cancer.

Dr.
Sun Jie of the Family Hereditary Cancer Center of Peking University Cancer Hospital is the first author of the study, and Professor Xie Yuntao is the corresponding author
.

BRCA1/2 is a susceptibility gene with high penetrance rate of breast cancer, and healthy women with BRCA1/2 germline mutations have a high lifetime risk of breast cancer.
Patients with breast cancer with BRCA1/2 mutations are also at higher risk
of the contralateral breast gland.
Previous studies by Professor Xie Yuntao's team showed that the cumulative risk of 10-year contralateral breast cancer in breast cancer patients carrying BRCA1 and BRCA2 mutations in China was 15.
5% and 15.
5%, respectively 17.
5%, which is 4-5 times that of non-mutation carriers, but there are significant differences
between different BRCA1/2 mutant individuals.
As the most effective breast cancer risk intervention, contralateral prophylactic total mastectomy can reduce the risk of breast cancer by at least 90%, but it is an invasive and irreversible intervention, and the loss of breasts may affect the mental, physical and sensory function and quality of life of the intervention subject.
Especially in younger patients
.
Clinically, patients with BRCA1/2 mutations and physicians often face difficult choices
about whether to perform contralateral breast prophylactic resection.
Therefore, it is important to accurately predict the risk of contralateral breast cancer in patients with BRCA1/2 mutations.

To date, no methods or models
have been reported globally to predict the absolute risk of contralateral breast cancer in individual BRCA-mutant breast cancer patients.

With the support of the National Natural Science Foundation of China, Professor Xie's team first included BRCA mutation sites in a cohort of 491 BRCA1/2 mutant breast cancer patients with long-term follow-up 18 potential related factors such as mutation type, age of first diagnosis, age of first birth, breast density, family history, hormonal status, tumor pathological type, endocrine therapy, etc.
, were finally screened for the age of first diagnosis, first-class family history of breast and/or ovarian cancer, The BRCA-CRisk prediction model was established for predicting the risk of contralateral breast cancer in patients with BRCA1/2 mutation breast cancer, four variables significantly related to the risk of
contralateral breast cancer.
The model predicts with good predictive ability (5-year and 10-year AUC of 0.
775, respectively 0.
702), the model was applied to 205 cases from the team of Professor Cao Wenming from the Familial Hereditary Cancer Center of Peking University Cancer Hospital, Peking University International Hospital and University of Chinese Academy of Sciences Cancer Hospital It was well validated
in an independent cohort of patients with BRCA1/2 mutant breast cancer.
Chu Futao of Peking University International Hospital and Pan Jiani of the Cancer Hospital of the University of Chinese Academy of Sciences are co-first authors of the study, and Professor Cao Wenming of the University of Chinese Academy of Sciences Cancer Hospital is the co-corresponding author
.

This model provides a useful tool for assessing the cumulative risk of contralateral breast cancer in patients with BRCA1/2 mutation breast cancer, and is easy
to use.
Through our predictive model, we found that some individuals with BRCA1/2 mutations have a 10-year cumulative risk of contralateral breast cancer of more than 50%; In other cases, the cumulative risk of 10 years in other mutated individuals is only about
5-10%.
For some BRCA1/2 individuals at high risk of contralateral breast cancer, contralateral prophylactic total mastectomy may be an option; For some low-risk individuals, close monitoring
can be used.
Therefore, our predictive model provides a useful reference
for patients with BRCA1/2 mutations and clinicians in deciding whether to perform contralateral mastectomy.

(Cancer Hospital)