NDLI: Contribution of XPD (Lys751Gln) and XRCC1 (Arg399Gln) Polymorphisms in Familial and Sporadic Breast Cancer Predisposition and Survival: An Indian Report

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Contribution of XPD (Lys751Gln) and XRCC1 (Arg399Gln) Polymorphisms in Familial and Sporadic Breast Cancer Predisposition and Survival: An Indian Report

Content Provider	Springer Nature Link
Author	Syamala, Volga S. Syamala, Vani Sreedharan, Hariharan Raveendran, Praveenkumar B. Kuttan, Ratheesan Ankathil, Ravindran
Copyright Year	2008
Abstract	The etiology of a significant proportion of familial breast cancers is still poorly understood, with known high penetrance gene mutations accounting for only a small proportion of the cases. The increased risk of breast cancer for the majority of women with a family history likely reflects shared minor low penetrant genetic factors. In the present case-control study undertaken to examine the influence of DNA damage repair gene polymorphisms in familial and sporadic breast cancer susceptibility, 219 Sporadic and 140 familial breast cancer patients and 367 controls were genotyped using PCRRFLP. Odds Ratios (ORs) and 95% Confidence Intervals (95%CIs) were calculated by unconditional logistic regression adjusted to age. Variant genotypes XRCC1 Arg/Gln or Gln/Gln and XPD Lys/Gln or Gln/Gln increased both familial and sporadic breast cancer susceptibility. However, when the intra group risk was compared, the risk due to the XPD polymorphic genotypes Lys/Gln or Gln/Gln was significantly lower among familial breast cancer patients compared to sporadic breast cancer patients [OR = 0.61; 95%CI = 0.39–0.94; p value = 0.024) whereas the risk implied by XRCC1 variant genotype was not significantly different between the familial and nonfamilial groups of breast cancer patients [OR = 0.97; 95%CI = 0.63–1.49; p value = 0.882]. Both these variant genotypes were not associated with the disease characteristics or survival of either familial or sporadic breast cancer patients. This study represents an addition to previous published work on GSTs from the same study population and substantiates the hypothesis that the impact of the low penetrance gene polymorphisms differ by family history of the disease.
Starting Page	389
Ending Page	397
Page Count	9
File Format	PDF
ISSN	12194956
Journal	Pathology & Oncology Research
Volume Number	15
Issue Number	3
e-ISSN	15322807
Language	English
Publisher	Springer Netherlands
Publisher Date	2008-12-04
Publisher Place	Dordrecht
Access Restriction	Subscribed
Subject Keyword	Familial breast cancer Low penetrance genes Single nucleotide polymorphisms Survival XRCC1 XPD Biomedicine general Immunology Pathology Oncology Cancer Research
Content Type	Text
Resource Type	Article
Subject	Cancer Research Pathology and Forensic Medicine Oncology

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DOI:http://dx.doi.org/10.7314/APJCP.2012.13.11.5721 XRCC1 Arg399Gln and XPD Lys751Gln and Prognosis of Colorectal Cancer in a Chinese Population

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Contribution of XPD (Lys751Gln) and XRCC1 (Arg399Gln) Polymorphisms in Familial and Sporadic Breast Cancer Predisposition and Survival: An Indian Report

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