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Breast cancer and genetics.

ABSTRACT: Familiar aggregation of breast cancer has been known since Roman times, but it has been discussed in practical terms only from the 19th century. Most of the studies dealing with this issue suggest that the risk is higher in relatives of patients with early onset and that the risk also increases as a function of the bilaterality of the disease or the simultaneous presence of breast cancer and ovarian cancer.A series of epidemiological studies consistently suggest hereditary autosomal dominant transmission with reduced penetrance. Previous epidemiological research and collection of data from families has been used only from the 1990s in order to identify disease genes. The BRCA1 gene was identified as the first gene responsible for hereditary forms of breast cancer and subsequently BRCA2. In 1995 both genes were identified and cloned, and they demonstrated to have only minimal homology. The conclusions deal with genetic counseling and the evaluation of the risk of developing cancer.

SUBMITTER: Boeri L

PROVIDER: S-EPMC3558052 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature

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Breast cancer and genetics.

Boeri L L Canzonieri C C Cagioni C C Ornati F F Danesino C C

Journal of ultrasound 20111020 4

Familiar aggregation of breast cancer has been known since Roman times, but it has been discussed in practical terms only from the 19th century. Most of the studies dealing with this issue suggest that the risk is higher in relatives of patients with early onset and that the risk also increases as a function of the bilaterality of the disease or the simultaneous presence of breast cancer and ovarian cancer.A series of epidemiological studies consistently suggest hereditary autosomal dominant tra ...[more]

PMID: 23397024

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Project description:IntroductionRemodeling of cellular metabolism appears to be a consequence and possibly a cause of oncogenic transformation in human cancers. Specific aspects of altered tumor metabolism may be amenable to therapeutic intervention and could be coordinated with other targeted therapies. In breast cancer, the genetic landscape has been defined most comprehensively in efforts such as The Cancer Genome Atlas (TCGA). However, little is known about how alterations of tumor metabolism correlate with this landscape.MethodsIn total 25 cancers (23 fully analyzed by TCGA) and 5 normal breast specimens were analyzed by gas chromatography/mass spectrometry and liquid chromatography/mass spectrometry, quantitating 399 identifiable metabolites.ResultsWe found strong differences correlated with hormone receptor status with 18% of the metabolites elevated in estrogen receptor negative (ER-) cancers compared to estrogen receptor positive (ER+) including many glycolytic and glycogenolytic intermediates consistent with increased Warburg effects. Glutathione (GSH) pathway components were also elevated in ER- tumors consistent with an increased requirement for handling higher levels of oxidative stress. Additionally, ER- tumors had high levels of the oncometabolite 2-hydroxyglutarate (2-HG) and the immunomodulatory tryptophan metabolite kynurenine. Kynurenine levels were correlated with the expression of tryptophan-degrading enzyme (IDO1). However, high levels of 2-HG were not associated with somatic mutations or expression levels of IDH1 or IDH2. BRCA1 mRNA levels were positively associated with coenzyme A, acetyl coenzyme A, and GSH and negatively associated with multiple lipid species, supporting the regulation of ACC1 and NRF2 by BRCA1. Different driver mutations were associated with distinct patterns of specific metabolites, such as lower levels of several lipid-glycerophosphocholines in tumors with mutated TP53. A strong metabolomic signature associated with proliferation rate was also observed; the metabolites in this signature overlap broadly with metabolites that define ER status as receptor status and proliferation rate were correlated.ConclusionsThe addition of metabolomic profiles to the public domain TCGA dataset provides an important new tool for discovery and hypothesis testing of the genetic regulation of tumor metabolism. Particular sets of metabolites may reveal insights into the metabolic dysregulation that underlie the heterogeneity of breast cancer.

Dataset Information

Breast cancer and genetics.

Publications

Breast cancer and genetics.

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