Table of Contents
1
UI - 11950848
AU - de Jong MM; Nolte IM; te Meerman GJ; van der Graaf WT; Oosterwijk JC;
TI -
Kleibeuker JH; Schaapveld M; de Vries EG
Genes other than BRCA1 and BRCA2 involved in breast cancer
susceptibility.
SO - J Med Genet 2002 Apr;39(4):225-42
AD - Department of Medical Oncology, University Hospital, Groningen, The
Netherlands.
This review focuses on genes other than the high penetrance genes BRCA1
and BRCA2 that are involved in breast cancer susceptibility. The goal of
this review is the discovery of polymorphisms that are either associated
with breast cancer or that are in strong linkage disequilibrium with
breast cancer causing variants. An association with breast cancer at a
5% significance level was found for 13 polymorphisms in 10 genes
described in more than one breast cancer study. Our data will help focus
on the further analysis of genetic polymorphisms in populations of
appropriate size, and especially on the combinations of such
polymorphisms. This will facilitate determination of population
attributable risks, understanding of gene-gene interactions, and
improving estimates of genetic cancer risks.
2
UI - 11288710
AU - Maraschio P; Danesino C; Antoccia A; Ricordy R; Tanzarella C; Varon R;
TI -
Reis A; Besana D; Guala A; Tiepolo L
A novel mutation and novel features in Nijmegen breakage syndrome.
SO - J Med Genet 2001 Feb;38(2):113-7
3
UI - 11966322
AU - Nimura Y; Ismail SM; Kurimas A; Chen DJ; Stevens CW
TI -
DNA-PK and ATM are required for radiation-enhanced integration.
SO - Radiat Res 2002 May;157(5):562-7
AD - Department of Experimental Radiation Oncology, The University of Texas
M. D. Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, Texas
77030, USA.
Ionizing radiation is known to improve transfection of exogenous DNA, a
process we have termed radiation-enhanced integration. Previous
observations have demonstrated that Ku proteins are critical for
radiation-enhanced integration. Since Ku proteins form the DNA-binding
domain of DNA-PK and since DNA-PK is important in nonhomologous DNA end
joining, it was hypothesized that DNA-PK function might be important for
radiation-enhanced integration. The ATM protein has been shown to be
important in the recognition of a variety of types of DNA damage and to
associate with DNA-PK under certain conditions. It was thus hypothesized
that ATM might also play a role in radiation-enhanced integration. To
test these hypotheses, radiation-enhanced integration was measured in
hamster cells that are defective in the catalytic subunit of DNA-PK and
in human cells containing mutant ATM. Radiation-enhanced integration was
not detected in any of the cell lines with mutant PRKDC (also known as
DNA-PKcs), but it was present in cells of the same lineage with
wild-type PRKDC. Radiation-enhanced integration was defective in cells
lacking kinase activation. ATM-deficient cell lines also showed
defective radiation-enhanced integration. These data demonstrate that
DNA-PK and ATM must both be active for radiation-enhanced integration to
be observed.
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