Therapeutic landscape in mutational triple negative breast cancer

被引：70

作者：

Shi, Yaqin ^{[1
]}

Jin, Juan ^{[1
]}

Ji, Wenfei ^{[2
]}

Guan, Xiaoxiang ^{[1
,2
,3
]}

机构：

[1] Nanjing Univ, Sch Med, Jinling Hosp, Dept Med Oncol, Nanjing 210002, Jiangsu, Peoples R China

[2] Nanjing Med Univ, Dept Med Oncol, Jinling Clin Coll, Nanjing 210002, Jiangsu, Peoples R China

[3] Nanjing Med Univ, Affiliated Hosp 1, Dept Oncol, Nanjing 210029, Jiangsu, Peoples R China

来源：

MOLECULAR CANCER | 2018年 / 17卷

基金：

中国国家自然科学基金;

关键词：

Somatic; Germline; Mutation; Therapeutic; TNBC; GROWTH-FACTOR RECEPTOR; PATHOLOGICAL COMPLETE RESPONSE; BRCA2 GERMLINE MUTATIONS; NEOADJUVANT CHEMOTHERAPY; SUSCEPTIBILITY GENES; 1ST-LINE TREATMENT; PROSPECTIVE COHORT; DOUBLE-BLIND; WOMEN; COMBINATION;

D O I：

10.1186/s12943-018-0850-9

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Triple negative breast cancer (TNBC) is a heterogeneous disease with aggressive behavior and poor prognosis. Genomic sequencing has detected a distinctive mutational portrait of both the germline and somatic alterations in TNBC, which is staggeringly different from other breast cancer subtypes. The clinical utility of sequencing germline BRCA1/2 genes has been well established in TNBC. However, for other predisposition genes, studies concerning the risk and penetrance to TNBC are relatively scarce. Very few recurrent mutations, including TP53 and PI3KCA mutations, together with a long tail of individually rare mutations occur in TNBC. These combined effects of genomic alterations drive TNBC progression. Given the complexity and heterogeneity of TNBC, clinical interpretation of the genomic alterations in TNBC may pave a new way for the treatment of TNBC. In this review, we summarized the germline and somatic mutation profiles of TNBC and discussed the current and upcoming therapeutic strategies targeting the mutant proteins or pathways to enable tailored-therapeutics.

引用

页数：11

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