TNBC는 최초 chemotherapy에 반응이 좋으나 곧 재발하고, 내성이 생긴다. TNBC 맞춤 치료가 시급하다. chemotherapy 전에 Deep sequencing하여, 반응 및 내성에 대한 예측 요소를 확인함.

56 pre-treatment TNBC-biopsies deep sequenced (1,977 genes, normal-tumor pairs)

이후, Doxorubicin과 Cyclophosphamide로 항암치료 시작.

Genetic alteration과 다음의 상관관계 분석

• chemotherapy response
• relapse-free survival
• BRCA proficiency

TP53, TTN, PIK3CA 변이가 가장 많이 발견되었으며, 화학요법 반응, 재발에 따른 차이는 없었다.

대신 재발 환자에게 TTK, TP53BP2 높은 CNA 빈도가 보이며 낮은 화학요법 반응과 연관됨

PIK3CA 변이가 BRCA proficiency와 연관됨

Summary #

Introduction #

The purpose of this study was twofold:

1. to find chemotherapy response-predictive biomarkers
2. to identify new treatment targets

Methods #

Patients and tumor biopsies #

Pathology #

BRCA analysis #

Library preparation #

Sequence data analysis #

Sanger sequencing for validation of PIK3CA mutations #

Statistics: association of sequencing data with clinical information #

Results #

Description of the dataset #

Few recurrent mutations in TNBC #

Association of mutations with clinical variables #

Pathway analysis #

Copy number analysis #

Discussion #

Conclusions #

Incoming Links #

Related Articles (Article 0) #

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