Genetics of breast cancer

Sigurdur Ingvarsson*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

9 Citations (Scopus)


Breast cancer has all the hallmarks of a multistep genetic disease. Somatic and germ-line mutations have been described in several tumor suppressor genes, and oncogenes are found to be amplified. Genes in the ATM-CHK2-TP53 cell-cycle checkpoint pathway are mutated in relation to breast cancer, particularly TP53 at the somatic level. Germ-line mutations in BRCA1 and BRCA2, in which DNA repair function is interrupted, account for the majority of familial breast cancers. The mechanism behind the frequent instability of the genomes of breast cancer cells has been poorly understood, but recent functional findings on oncogenes and tumor suppressor genes have provided substantial information on the matter. Some recent developments in drug therapy are based on molecular and genomic findings about breast cancer pathogenesis.

Original languageEnglish
Pages (from-to)991-1002
Number of pages12
JournalDrugs of Today
Issue number12
Publication statusPublished - Dec 2004

Bibliographical note

Funding Information:
This study was supported in part by the Milan Ilich Foundation.


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