Genetics of Breast Cancer: A Topic in Evolution.
Seattle, United States. In Ann Oncol, Feb 2015
An additional 2-3% of cases are due to a mutation in a rare, moderate-penetrance gene (e.g., CHEK2, BRIP1, ATM, and PALB2), each associated with a two-fold increase in risk.
The spectrum of genetic mutations in breast cancer.
Karāchi, Pakistan. In Asian Pac J Cancer Prev, Dec 2014
However, the great majority of breast cancer cases are not related to a mutated gene of high penetrance, but to genes of low penetrance such as CHEK2, CDH1, NBS1, RAD50, BRIP1 and PALB2, which are frequently mutated in the general population.
Genetic and epigenetic control of RKIP transcription.
Kuwait, Kuwait. In Crit Rev Oncog, 2013
We also review the genetic and epigenetic modulation of RKIP transcription through EZH2, a component of the polycomb repressive complex 2 (PRC2) and sequence specific transcription factors (TFs) BACH1 and Snail.
Mutations in BRIP1 confer high risk of ovarian cancer.
Reykjavík, Iceland. In Nat Genet, 2011
We discovered a rare (0.41% allelic frequency) frameshift mutation, c.2040_2041insTT, in the BRIP1 (FANCJ) gene that confers an increase in ovarian cancer risk (odds ratio (OR) = 8.13, P = 2.8 × 10(-14)).
Structure of the DNA repair helicase XPD.
Saint Andrews, United Kingdom. In Cell, 2008
The XPD helicase (Rad3 in Saccharomyces cerevisiae) is a component of transcription factor IIH (TFIIH), which functions in transcription initiation and Nucleotide Excision Repair in eukaryotes, catalyzing DNA duplex opening localized to the transcription start site or site of DNA damage, respectively.