DNA repair proficiency: a potential marker for identification of high risk members in breast cancer families

B, Jyothish; Ankathil, Ravindran; Chandini, R; Vinodkumar, B.; Nayar, G.S.; Roy, Dinesh; Madhavan, Jayaprakash; Nair, Manjusha

doi:10.1016/s0304-3835(97)00419-9

Cited by 24 publications

(19 citation statements)

References 18 publications

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“…Increasing evidence suggests that insufficient or faulty repair of DNA damage plays an important role in the carcinogenesis of breast cancer (Parshad et al, 1996;Jyothish et al, 1998). Several well established risk factors, including UV light, smoking, dietary factors, exposure to reactive oxygen species and endogenous or exogenous estrogens are thought to be associated with DNA damage.…”

Section: Discussionmentioning

confidence: 99%

Single Nucleotide Polymorphisms of DNA Base-excision Repair Genes (APE1, OGG1 and XRCC1) Associated with Breast Cancer Risk in a Chinese Population

Luo¹,

Li²,

Qu³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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Altered DNA repair capacity can result in increased susceptibility to cancer. The base excision repair (BER) pathway effectively removes DNA damage caused by ionizing radiation and reactive oxidative species (ROS). In the current study, we analyzed the possible relation of polymorphisms in BER genes, including 8-oxoguanine DNA glycosylase (OGG1), apurinic/apyrimidinic endonuclease 1 (APE1), and X-ray repair cross-complementing group 1 protein (XRCC1), with breast cancer risk in Chinese Han women. This case-control study examined 194 patients with breast cancer and 245 cancer-free hospitalized control subjects. Single nucleotide polymorphisms (SNPs) of OGG1 (Ser326Cys), XRCC1 (Arg399Gln), and APE1 (Asp148Glu and -141T/G) were genotyped and analyzed for their association with breast cancer risk using multivariate logistic regression models. We found that XRCC1 Arg399Gln was significantly associated with an increased risk of breast cancer. Similarly, the XRCC1 Gln allele was significantly associated with an elevated risk in postmenopausal women and women with a high BMI (≥ 24 kg/m 2 ). The OGG1 Cys allele provided a significant protective effect against developing cancer in women with a low BMI (< 24 kg/m 2 ). When analyzing the combined effects of these alleles on the risk of breast cancer, we found that individuals with ≥ 2 adverse genotypes (XRCC1 399Gln, APE1 148Asp, and OGG1 326Ser) were at a 2.18-fold increased risk of breast cancer (P = 0.027). In conclusion, our data indicate that Chinese women with the 399Gln allele of XRCC1 have an increased risk of breast cancer, and the combined effects of polymorphisms of BER genes may contribute to tumorigenesis.

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Section: Discussionmentioning

confidence: 99%

Single Nucleotide Polymorphisms of DNA Base-excision Repair Genes (APE1, OGG1 and XRCC1) Associated with Breast Cancer Risk in a Chinese Population

Luo¹,

Li²,

Qu³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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“…Reduced DNA repair capacity among breast cancer cases has been observed in mutagen (X-rays, bleomycin, and BPDE [benzopyrene dihydrodiol epoxide]) sensitivity assays conducted in human peripheral blood lymphocytes [5][6][7][8][9] and in host cell reactivation assays with BPDE-or UV-induced damage [10,11]. The wide range of carcinogens used in these assays suggests that defects in global DNA repair capacity, rather than a single substrate-specific DNA repair pathway, underlie cancer risk.…”

Section: Introductionmentioning

confidence: 99%

Genetic variation in DNA repair pathway genes and premenopausal breast cancer risk

Han

Haiman

Niu

et al. 2008

Breast Cancer Res Treat

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Purpose-We comprehensively evaluated genetic variants in DNA repair genes with premenopausal breast cancer risk.Methods-In this nested case-control study of 239 prospectively ascertained premenopausal breast cancer cases and 477 matched controls within the Nurses' Health Study II, we evaluated 1,463 genetic variants in 60 candidate genes across 5 DNA repair pathways, along with DNA polymerases, Fanconi Anemia complementation groups, and other related genes.Results-Four variants were associated with breast cancer risk with a significance level of <0.01; two in the XPF gene and two in the XRCC3 gene. An increased risk was found in those harboring a greater number of missense putative risk alleles (a priori defined in an independent study) in the non-homologous end-joining repair pathway of double-strand breaks (odds ratio per risk allele, 1.37 (95%confidence interval, 1.03-1.82), P trend, 0.03).Conclusions-This study implicates variants of genes in the double-strand break repair pathway in the etiology of premenopausal breast cancer.

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“…Dosadašnja istraživanja upućuju na povezanost između rezultata bleomicin-testa i pojavnosti premalignih lezija (18)(19)(20)9). Do danas je proveden velik broj istraživanja sa svrhom procjene osjetljivosti na bleomicin i procjene rizika od razvoja zloćudnih (malignih) bolesti.…”

Section: Epidemiološke Studijeunclassified

Genome Instability and Bleomycin Sensitivity Test

Milić

2010

Archives of Industrial Hygiene and Toxicology

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Procjena individualne osjetljivosti na mutagene često je dio istraživanja u epidemiološkim studijama koje prate pojavnost zloćudnih bolesti u populacijama. Posljedica djelovanja mutagena u genomu izloženih osoba jest nastanak određene, manje ili veće, količine oštećenja, uvjetovane individualnim razlikama u osjetljivosti. Viša razina takve genomske nestabilnosti znači opasnost (rizik) od razvoja zloćudnih bolesti. Interindividualne razlike u odgovoru na mutagene obično se povezuju i s promijenjenom (većinom smanjenom) sposobnosti (kapacitetom) za popravak DNA. Citogenetičke studije su pokazale da je genom tumorskih stanica nestabilniji od normalnih, a time i skloniji akumuliranju oštećenja, bilo da je nestabilnost uzrokovana nasljeđem, izloženošću ili kombinacijom tih dvaju učinaka. U oboljelih ispitanika utvrđena je povećana učestalost kromatidnih i kromosomskih aberacija naspram normalne populacije te sklonost razvoju određenih vrsta neoplazija. U praćenju povezanosti promijenjenog odgovora i pojavnosti tumora služe nam različiti biomarkeri. Kao indirektni pokazatelji uspješnosti popravka DNA često se rabe testovi osjetljivosti na mutagene u kulturama limfocita periferne krvi. Jedan od takvih testova je i bleomicinski test. Radiomimetik i citostatik, a po strukturi glikopeptid, bleomicin se u stanici prevodi u aktivni oblik sposoban cijepati molekulu DNA što uzrokuje brojne jednolančane i dvolančane lomove. Kao jednostavna i jeftina metoda, zasniva se na utvrđivanju ukupnog broja jednolančanih lomova u kromosomima limfocita uzgajanih u staničnoj kulturi koji su u uvjetima in vitro tijekom kasne G 2 -faze staničnog ciklusa bili izloženi bleomicinu. Ovaj revijalni rad daje pregled utjecaja raznih faktora na rezultate samog testa i pokazuje njegovu široku primjenu u proučavanju genomske nestabilnosti koju najčešće uzrokuje kombinacija raznih faktora. Arh Hig Rada Toksikol 2010;61:257-266 KLJUČNE RIJEČI: DNA-popravak, jednolančani lomovi, kromatidni lomovi, polimorfi zam, translokacije, tumorske stanice Milić M. BLEOMYCIN SENSITIVITY TEST Bleomicin-testProcjena individualne osjetljivosti na mutagene često je dio epidemioloških istraživanja koja prate pojavnost zloćudnih bolesti u populacijama. Naime, kao posljedica djelovanja mutagena u genomu izloženih osoba nastaje određena, manja ili veća, količina oštećenja, koja je uvjetovana individualnim razlikama u osjetljivosti. Viša razina takve genomske nestabilnosti znači opasnost (rizik) od razvoja zloćudnih bolesti. Interindividualne razlike u odgovoru na mutagene obično se povezuju i s promijenjenom (većinom smanjenom) sposobnosti (kapacitetom) za popravak DNA. Citogenetičke studije su pokazale da je genom tumorskih stanica nestabilniji od normalnih (1-3), a time i skloniji akumuliranju oštećenja, bilo da je nestabilnost uzrokovana nasljeđem, izloženošću ili kombinacijom tih dvaju učinaka (4). Nasljedna kromosomska nestabilnost opisana je u raznim sindromima povezanim s lomovima kromosoma, kao što su Bloomov sindrom, Fanconijeva anemija, Ataxia telangiectasia i ...

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DNA repair proficiency: a potential marker for identification of high risk members in breast cancer families

Cited by 24 publications

References 18 publications

Single Nucleotide Polymorphisms of DNA Base-excision Repair Genes (APE1, OGG1 and XRCC1) Associated with Breast Cancer Risk in a Chinese Population

Single Nucleotide Polymorphisms of DNA Base-excision Repair Genes (APE1, OGG1 and XRCC1) Associated with Breast Cancer Risk in a Chinese Population

Genetic variation in DNA repair pathway genes and premenopausal breast cancer risk

Genome Instability and Bleomycin Sensitivity Test

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