DESCRIPTION:

This translocation was obtained by sequencing breast cancer tumors. It is conserved in other tumor types and was shown to be involved in cell transformation in rat fibroblasts.

LABEL:

Translocated in Breast Cancer

SCORE TYPE:

Binary

DATE ADDED:

2018-08-08

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

Shantanu Banerji, Kristian Cibulskis, Claudia Rangel-Escareno, Kristin K Brown, Scott L Carter, Abbie M Frederick, Michael S Lawrence, Andrey Y Sivachenko, Carrie Sougnez, Lihua Zou, Maria L Cortes, Juan C Fernandez-Lopez, Shouyong Peng, Kristin G Ardlie, Daniel Auclair, Veronica Bautista-Piña, Fujiko Duke, Joshua Francis, Joonil Jung, Antonio Maffuz-Aziz, Robert C Onofrio, Melissa Parkin, Nam H Pho, Valeria Quintanar-Jurado, Alex H Ramos, Rosa Rebollar-Vega, Sergio Rodriguez-Cuevas, Sandra L Romero-Cordoba, Steven E Schumacher, Nicolas Stransky, Kristin M Thompson, Laura Uribe-Figueroa, Jose Baselga, Rameen Beroukhim, Kornelia Polyak, Dennis C Sgroi, Andrea L Richardson, Gerardo Jimenez-Sanchez, Eric S Lander, Stacey B Gabriel, Levi A Garraway, Todd R Golub, Jorge Melendez-Zajgla, Alex Toker, Gad Getz, Alfredo Hidalgo-Miranda, Matthew Meyerson

TITLE:

Sequence analysis of mutations and translocations across breast cancer subtypes.

JOURNAL:

Nature Jun 2012, Vol 486, pp. 405-9

ABSTRACT:

Breast carcinoma is the leading cause of cancer-related mortality in women worldwide, with an estimated 1.38 million new cases and 458,000 deaths in 2008 alone. This malignancy represents a heterogeneous group of tumours with characteristic molecular features, prognosis and responses to available therapy. Recurrent somatic alterations in breast cancer have been described, including mutations and copy number alterations, notably ERBB2 amplifications, the first successful therapy target defined by a genomic aberration. Previous DNA sequencing studies of breast cancer genomes have revealed additional candidate mutations and gene rearrangements. Here we report the whole-exome sequences of DNA from 103 human breast cancers of diverse subtypes from patients in Mexico and Vietnam compared to matched-normal DNA, together with whole-genome sequences of 22 breast cancer/normal pairs. Beyond confirming recurrent somatic mutations in PIK3CA, TP53, AKT1, GATA3 and MAP3K1, we discovered recurrent mutations in the CBFB transcription factor gene and deletions of its partner RUNX1. Furthermore, we have identified a recurrent MAGI3-AKT3 fusion enriched in triple-negative breast cancer lacking oestrogen and progesterone receptors and ERBB2 expression. The MAGI3-AKT3 fusion leads to constitutive activation of AKT kinase, which is abolished by treatment with an ATP-competitive AKT small-molecule inhibitor. PUBMED: 22722202
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