The prognostic effects of somatic mutations in ER-positive breast cancer

被引：107

作者：

Griffith, Obi L. ^{[1
,2
,3
,4
]}

Spies, Nicholas C. ^{[1
]}

Anurag, Meenakshi ^{[5
,6
,7
,8
]}

Griffith, Malachi ^{[1
,2
,3
,4
]}

Luo, Jingqin ^{[3
,9
]}

Tu, Dongsheng ^{[10
]}

Yeo, Belinda ^{[11
]}

Kunisaki, Jason ^{[1
]}

Miller, Christopher A. ^{[1
,2
]}

Krysiak, Kilannin ^{[1
,2
]}

Hundal, Jasreet ^{[1
]}

Ainscough, Benjamin J. ^{[1
]}

Skidmore, Zachary L. ^{[1
]}

Campbell, Katie ^{[1
]}

Kumar, Runjun ^{[2
]}

Fronick, Catrina ^{[1
]}

Cook, Lisa ^{[1
]}

Snider, Jacqueline E. ^{[2
]}

Davies, Sherri ^{[2
]}

Kavuri, Shyam M. ^{[5
,6
,7
,8
]}

Chang, Eric C. ^{[5
,6
,7
,8
]}

Magrini, Vincent ^{[1
,4
,12
,13
]}

Larson, David E. ^{[1
]}

Fulton, Robert S. ^{[1
,4
]}

Liu, Shuzhen ^{[10
]}

Leung, Samuel ^{[10
]}

Voduc, David ^{[10
]}

Bose, Ron ^{[2
]}

Dowsett, Mitch ^{[11
]}

Wilson, Richard K. ^{[1
,3
,4
]}

Nielsen, Torsten O. ^{[10
]}

Mardis, Elaine R. ^{[1
,3
,4
,12
,13
]}

Ellis, Matthew J. ^{[5
,6
,7
,8
]}

机构：

[1] Washington Univ, Sch Med, McDonnell Genome Inst, St Louis, MO 63108 USA

[2] Washington Univ, Sch Med, Dept Med, Div Oncol, St Louis, MO 63110 USA

[3] Washington Univ, Sch Med, St Louis, MO 63110 USA

[4] Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA

[5] Baylor Coll Med, Lester & Sue Smith Breast Ctr, Houston, TX 77030 USA

[6] Baylor Coll Med, Dan L Duncan Canc Ctr, Houston, TX 77030 USA

[7] Baylor Coll Med, Dept Med, Houston, TX 77030 USA

[8] Baylor Coll Med, Dept Mol & Cellular Biol, Houston, TX 77030 USA

[9] Washington Univ, Sch Med, Div Biostat, St Louis, MO 63110 USA

[10] Univ British Columbia, Genet Pathol Evaluat Ctr, Vancouver, BC V6H 3Z6, Canada

[11] Inst Canc Res, London SM2 5NG, England

[12] Ohio State Univ, Coll Med, Nationwide Childrens Hosp, Columbus, OH 43205 USA

[13] Ohio State Univ, Dept Pediat, Coll Med, Columbus, OH 43205 USA

来源：

NATURE COMMUNICATIONS | 2018年 / 9卷

关键词：

ACUTE MYELOID-LEUKEMIA; FALSE DISCOVERY RATES; POSTMENOPAUSAL WOMEN; LUNG ADENOCARCINOMA; SEQUENCE-ANALYSIS; HER2; MUTATIONS; PD-1; BLOCKADE; TAMOXIFEN; VARIANTS; GENOME;

D O I：

10.1038/s41467-018-05914-x

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Here we report targeted sequencing of 83 genes using DNA from primary breast cancer samples from 625 postmenopausal (UBC-TAM series) and 328 premenopausal (MA12 trial) hormone receptor-positive (HR+) patients to determine interactions between somatic mutation and prognosis. Independent validation of prognostic interactions was achieved using data from the METABRIC study. Previously established associations between MAP3K1 and PIK3CA mutations with luminal A status/favorable prognosis and TP53 mutations with Luminal B/non-luminal tumors/poor prognosis were observed, validating the methodological approach. In UBC-TAM, NF1 frame-shift nonsense (FS/NS) mutations were also a poor outcome driver that was validated in METABRIC. For MA12, poor outcome associated with PIK3R1 mutation was also reproducible. DDR1 mutations were strongly associated with poor prognosis in UBC-TAM despite stringent false discovery correction (q = 0.0003). In conclusion, uncommon recurrent somatic mutations should be further explored to create a more complete explanation of the highly variable outcomes that typifies ER+ breast cancer.

引用

页数：16

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