Prevalence and clinical impact of TP53 germline mutations in Chinese women with breast cancer

2019 ◽  
Vol 146 (2) ◽  
pp. 487-495 ◽  
Author(s):  
Shuyan Sheng ◽  
Ye Xu ◽  
Yonghai Guo ◽  
Lu Yao ◽  
Li Hu ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Chinese Women ◽  
Germline Mutations ◽  
Clinical Impact ◽  
Tp53 Germline Mutations

TP53 germline mutations in young females with early onset breast cancer in a Mexican population.

2016 ◽  
Vol 34 (15_suppl) ◽  
pp. e13027-e13027
Author(s):  
Lenny Nadia Gallardo ◽  
Teresa Tusie-Luna ◽  
Maria Isabel Tusie-Luna ◽  
José Díaz-Chávez ◽  
Enrique Macario Herrera Medina ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Early Onset ◽  
Germline Mutations ◽  
Mexican Population ◽  
Early Onset Breast Cancer ◽  
Young Females ◽  
Tp53 Germline Mutations

BRCA1 germline mutations and tumor characteristics in Chinese women with familial or early-onset breast cancer

2008 ◽  
Vol 117 (1) ◽  
pp. 55-60 ◽  
Author(s):  
Weiqiu Chen ◽  
Kaifeng Pan ◽  
Tao Ouyang ◽  
Jinfeng Li ◽  
Tianfeng Wang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Early Onset ◽  
Chinese Women ◽  
Germline Mutations ◽  
Tumor Characteristics ◽  
Early Onset Breast Cancer

Somatic and germline mutation profiles of Chinese breast cancer patients younger than 35.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 554-554
Author(s):  
Ning Liao ◽  
Guo-Chun Zhang ◽  
Xiaoqing Chen ◽  
Weikai Xiao ◽  
Jianguo Lai ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cell Cycle ◽  
Cancer Patients ◽  
Germline Mutation ◽  
Early Onset ◽  
Chinese Women ◽  
Germline Mutations ◽  
Breast Cancer Patients ◽  
Early Onset Breast Cancer ◽  
Younger Women

554 Background: Limited studies have investigated the molecular underpinnings driving breast cancer development in Chinese younger women. Based from our previous data, more Chinese women are diagnosed with early-onset breast cancer than in the West. In our study, we aim to investigate the comprehensive mutational profile of Chinese women 35 years old and younger (≤35y) diagnosed with breast cancer. Methods: Targeted sequencing was performed on surgically-removed tumor tissues and blood samples collected from 589 women diagnosed with stage I-III breast cancer of various molecular subtypes at the Guangdong Provincial People’s Hospital (GPDH) using a gene panel interrogating 520 cancer-related genes. We compared the data of 53 women aged ≤35y from our cohort to the data from 33 breast cancer patients aged ≤35y included in The Cancer Genome Atlas (TCGA) dataset. Results: Among the women aged ≤35y with early-stage breast cancer from both cohorts, our cohort had more number of hormone receptor-positive (HR+) patients (GPDH, 72% vs. TCGA, 61%, P< 0.001). Analysis revealed an overall mutation detection rate of 98% in our cohort, with mutations affecting genes involved in the PI3K pathway (47%) and cell cycle pathway (23%). TP53 and PIK3CA were the most commonly mutated genes, with mutation rates of 51% and 25% from our cohort. No statistical difference in mutation profile was found between GPDH and TCGA cohorts. Moreover, germline mutations considered as pathogenic and likely pathogenic (P/LP) in breast cancer susceptibility genes including BRCA1 (n = 4), BRCA2 (n = 2), PALB2 (n = 1), PMS2 (n = 1), PTEN (n = 1), and ATM (n = 1) were detected from 18.9% (10/53) of the patients from our cohort. Women aged ≤35y had significantly more germline BRCA1 mutations than patients > 35y from our cohort (7.5%, 4/53 vs. 2.1%, 11/536 P= 0.049). Conclusions: Our study has identified the involvement of PI3K and cell cycle as the two key pathways in the early development of breast tumors in younger women. In addition, our results also support the role of P/LP germline mutations in breast oncogenesis in Chinese patients with early-onset breast cancer, indicating the need to include a more comprehensive germline mutation screening in our population.

Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer

2011 ◽  
Vol 132 (2) ◽  
pp. 421-428 ◽  
Author(s):  
Juan Zhang ◽  
Renguang Pei ◽  
Zhiyuan Pang ◽  
Tao Ouyang ◽  
Jinfeng Li ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Familial Breast Cancer ◽  
Chinese Women ◽  
Germline Mutations ◽  
Brca1 And Brca2

RAD51C germline mutations in Chinese women with familial breast cancer

2011 ◽  
Vol 129 (3) ◽  
pp. 1019-1020 ◽  
Author(s):  
Zhiyuan Pang ◽  
Lu Yao ◽  
Juan Zhang ◽  
Tao Ouyang ◽  
Jinfeng Li ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Familial Breast Cancer ◽  
Chinese Women ◽  
Germline Mutations

scholarly journals Germline mutations of DICER1 in Chinese women with BRCA1/BRCA2-negative familial breast cancer

2014 ◽  
Vol 13 (4) ◽  
pp. 10754-10760 ◽  
Author(s):  
W.-M. Cao ◽  
Y. Gao ◽  
H.-J. Yang ◽  
S.-N. Xie ◽  
X.-L. Meng ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Familial Breast Cancer ◽  
Chinese Women ◽  
Germline Mutations ◽  
Brca1 Brca2

scholarly journals Breast cancer phenotype in women with TP53 germline mutations: a Li-Fraumeni syndrome consortium effort

2012 ◽  
Vol 133 (3) ◽  
pp. 1125-1130 ◽  
Author(s):  
Serena Masciari ◽  
Deborah A. Dillon ◽  
Michelle Rath ◽  
Mark Robson ◽  
Jeffrey N. Weitzel ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Germline Mutations ◽  
Li Fraumeni Syndrome ◽  
Cancer Phenotype ◽  
Li Fraumeni ◽  
Tp53 Germline Mutations
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