Prospective Enterprise-Level Molecular Genotyping of a Cohort of Cancer Patients

被引：74

作者：

MacConaill, Laura E. ^{[1
,2
]}

Garcia, Elizabeth ^{[1
]}

Shivdasani, Priyanka ^{[1
]}

Ducar, Matthew ^{[2
]}

Adusumilli, Ravali ^{[2
]}

Breneiser, Marc ^{[2
]}

Byrne, Mark ^{[1
]}

Chung, Lawrence ^{[1
]}

Conneely, Jodie ^{[1
]}

Crosby, Lauren ^{[1
]}

Garraway, Levi A. ^{[2
,3
]}

Gong, Xin ^{[1
]}

Hahn, William C. ^{[2
,3
]}

Hatton, Charlie ^{[2
]}

Kantoff, Philip W. ^{[3
]}

Kluk, Michael ^{[1
]}

Kuo, Frank ^{[1
]}

Jia, Yonghui ^{[1
]}

Joshi, Ruchi ^{[1
]}

Longtine, Janina ^{[1
]}

Manning, Allison ^{[1
]}

Palescandolo, Emanuele ^{[2
]}

Sharaf, Nematullah ^{[1
]}

Sholl, Lynette ^{[1
]}

van Hummelen, Paul ^{[2
]}

Wade, Jacqueline ^{[1
]}

Wollinson, Bruce M. ^{[2
]}

Zepf, Dimity ^{[1
]}

Rollins, Barrett J. ^{[3
]}

Lindeman, Neal I. ^{[1
]}

机构：

[1] Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA

[2] Dana Farber Canc Inst, Ctr Canc Genome Discovery, Boston, MA 02115 USA

[3] Harvard Univ, Sch Med, Dept Med Oncol, Boston, MA USA

来源：

JOURNAL OF MOLECULAR DIAGNOSTICS | 2014年 / 16卷 / 06期

关键词：

METASTATIC COLORECTAL-CANCER; BRAF MUTATIONS; GENE-MUTATIONS; SOMATIC MUTATIONS; LUNG-CANCER; LEUKEMIA; TUMORS; EGFR; RAS; CHEMOTHERAPY;

D O I：

10.1016/j.jmoldx.2014.06.004

中图分类号：

R36 [病理学];

学科分类号：

100103 [病原生物学];

摘要：

Ongoing cancer genome characterization studies continue to elucidate the spectrum of genomic abnormalities that drive many cancers, and in the clinical arena assessment of the driver genetic alterations in patients is playing an increasingly important diagnostic and/or prognostic rote for many cancer types. However, the landscape of genomic abnormalities is still unknown for less common cancers, and the influence of specific genotypes on clinical behavior is often still unclear. To address some of these deficiencies, we developed Profile, a prospective cohort study to obtain genomic information on all patients at a large tertiary care medical center for cancer-related care. We enrolled patients with any cancer diagnosis, and, for each patient (unselected for cancer site or type) we applied mass spectrometric genotyping (OncoMap) of 471 common recurrent mutations in 41 cancer-related genes. We report the results of the first 5000 patients, of which 26% exhibited potentially actionable somatic mutations. These observations indicate the utility of genotyping in advancing the field of precision oncology.

引用

页码：660 / 672

页数：13

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