2012
DOI: 10.1038/nature11154
|View full text |Cite
|
Sign up to set email alerts
|

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 alone1. This malignancy represents a heterogeneous group of tumours with characteristic molecular features, prognosis, and responses to available therapy2–4. 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 a… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1
1
1

Citation Types

43
925
3
5

Year Published

2013
2013
2021
2021

Publication Types

Select...
5
1
1

Relationship

0
7

Authors

Journals

citations
Cited by 1,062 publications
(976 citation statements)
references
References 28 publications
43
925
3
5
Order By: Relevance
“…The panel was selected to represent frequently mutated breast fresh-frozen tumor specimens, but this study shows that interrogation of formalin-fixed paraffin embedded-derived DNA can now be applied to a variety of DCIS cases from hospital-based series, including cases archived for up to nine years at the time of DNA extraction. The rate of variants in DCIS samples was higher (5.6 mutations/Mb) than that previously reported for DCIS (1.61 mutations/Mb) 14 and invasive breast cancer (1.66 mutations/Mb) 4 and is likely to be due to the use of a panel focussed on genes known to be mutated in breast cancer. Although potential germline variants might have contributed to this (these were unable to be completely excluded as few cases had matched normal DNA available), the number of these germline variants is expected to be small, as stringent population filters based on large public databases were applied.…”
Section: Discussioncontrasting
confidence: 63%
See 3 more Smart Citations
“…The panel was selected to represent frequently mutated breast fresh-frozen tumor specimens, but this study shows that interrogation of formalin-fixed paraffin embedded-derived DNA can now be applied to a variety of DCIS cases from hospital-based series, including cases archived for up to nine years at the time of DNA extraction. The rate of variants in DCIS samples was higher (5.6 mutations/Mb) than that previously reported for DCIS (1.61 mutations/Mb) 14 and invasive breast cancer (1.66 mutations/Mb) 4 and is likely to be due to the use of a panel focussed on genes known to be mutated in breast cancer. Although potential germline variants might have contributed to this (these were unable to be completely excluded as few cases had matched normal DNA available), the number of these germline variants is expected to be small, as stringent population filters based on large public databases were applied.…”
Section: Discussioncontrasting
confidence: 63%
“…4,5,30,31 We therefore evaluated GATA3 mutation status in a further 91 pure DCIS cases using Sanger sequencing of exons 5 and 6 (as DNA was limited). Nonsynonymous or splice region mutations were identified in 21/91 cases (23%, Supplementary Table 1), for a final frequency of 30/111 cases (27%).…”
Section: Mutated Genes In Dcismentioning
confidence: 99%
See 2 more Smart Citations
“…The most commonly mutated gene in breast cancer is p53 [62]. P53 is a major regulator of apoptosis, senescence, and cell cycle arrest.…”
Section: Genetic Alterations In Breast Cancer and Their Connection Tomentioning
confidence: 99%