Appendix A8. Characteristics of Literature Included in the Systematic Review Evaluating the Association Between XRCC1 Arg399Gln Polymorphism and Breast Cancer a.
| First Author | Date | Country | Ethnicity | Study Design | Control Source | Genotyping Methods | Analyzed Sample Size (Case Number) | Minor Allele Frequency (Case/Control) | Considered Confounders b |
|---|---|---|---|---|---|---|---|---|---|
| Duell, E. J. | 2001 | USA | African-Americans | population based | population based | multiplex PCR-RFLP and 59-exoncuclease (Taqman) | 519(253) | (0.19/0.14) | age |
| Duell, E. J. | 2001 | USA | Whites | population based | population based | multiplex PCR-RFLP and 59-exoncuclease (Taqman) | 767(386) | (0.35/0.36) | AGE |
| Kim, S. U. | 2002 | Korea | NS | hospital based | hospital based | PCR-RFLP | 410(205) | (0.35/0.31) | breast feeding, family history of breast cancer and menopausal status at baseline |
| Han, J. | 2003 | USA | Caucasian, Southern European, Scandinavian, Asians, Hispanics, and African Americans | population based | population based | pyrosequencing, RFLP, and the 5 nuclease assay (TaqMan) | 2323(986) | (0.37/0.36) | age; menopausal status; postmenopausal hormone use; date of blood draw; time of blood draw; fasting status, body mass index at age 18 years, weight gain since age 18 years, age at menarche, age at menopause, parity/age at first birth, first-degree family history of breast cancer, history of benign breast disease, alcohol intake, during smoking, and duration of postmenopausal hormone use |
| Moullan, N. | 2003 | France | NS | hospital based | population based | TaqMan technology or variant specific restriction enzyme digestion | 566(254) | (0.34/0.35) | age |
| Shu, X. O. | 2003 | China | Han Chinese | population based | population based | PCR-based RFLP | 2270(1088) | (0.28/0.27) | age, education, family history of breast cancer, menopausal status, age at menarche, age at menopause, body mass index, waist: hip ratio, and physical activity |
| Smith, T. R. | 2003 | USA | Caucasian | hospital based | hospital based | PCR-RFLP | 518(251) | (0.36/0.33) | age, family history, age at menarche, age at first live birth, and body mass index |
| Smith, T. R. | 2003 | USA | Caucasian | hospital based | hospital based | PCR-RFLP | 462(162) | (0.34/0.35) | age |
| Deligezer, U. | 2004 | Turkey | NS | NS | NS | multiplex PCR | 284(151) | (0.39/0.37) | - |
| Figueiredo, J. C. | 2004 | Canada | Caucasian-Native or Caucasian-Asian or Caucasian-Black | population based | population based | matrix-assisted laser desorption ionization time of flight (MALDI-TOF) mass spectrometry | 804(402) | (0.35/0.37) | ethnicity, age, and family history of breast cancer |
| Forsti, A. | 2004 | Finland | NS | NS | population based | PCR-RFLP | 521(223) | (0.32/0.32) | - |
| Huang, C. S. | 2004 | Taiwan | NS | hospital based | hospital based | PCR-RFLP | 368(136) | (0.27/0.23) | - |
| Chacko, P. | 2005 | India | NS | hospital based | hospital based | PCR-RFLP and DNA sequencing techniques | 246 (123) | (0.34/0.21) | age and menopausal status |
| Dufloth, R. M. | 2005 | Brazil | NS | hospital based | volunteers (among hospital personnel) | PCR-RFLP | 205(86) | (0.27/0.29) | - |
| Metsola, K. | 2005 | Finland | Caucasian | hospital based | population based | PCR-RFLP | 957(479) | (0.30/0.27) | age, age at menarche, age at first full term pregnancy, number of pregnancies, history of benign breast disease, first degree family history of breast cancer, waist-to-hip ratio, smoking and use of alcohol. |
| Patel, A. V. | 2005 | USA | White, African-American, Hispanic, Asian, other/unknown | population based | population based | Taqman | 904(452) | (0.35/0.34) | matched pairs, body mass index, age at menopause, age at menarche, alcohol intake, education, parity, age at first live birth, physical activity, history of breast cysts, family history of breast cancer in mother or sister, use of hormone replacement therapy, and smoking status |
| Shen, J. | 2005 | USA | White or non-White | population based | population based | fluorescence polarization method | 2177(1067) | ( 0.36/0.35) | age at menarche, parity, lactation, months of lactation, age at first birth, number of miscarriages, history of fertility problems, body mass index at reference, body mass index at age 20, first-degree family history of breast cancer, history of benign breast disease, menopausal status, oral contraceptive use, hormone replacement use, race, education, religion, and marital status |
| Brewster, A. M. | 2006 | USA | mostly Caucasian | population based | population based | patented fluorogenic method for nucleic acid analysis(Taqman or 5’nuclease assay) and PCR-RFLP | 615(305) | (0.38/0.37) | family history |
| Bu, D. | 2006 | USA | Caucasian, Black, Hispanic, Ashkenazi Jewish | hospital based | hospital based | multiplex primer extension PCR | 285(190) | (0.34/0.33) | - |
| Pachkowski, B. F. | 2006 | USA | African Americans | population based | population based | the ABI 7700 Sequence Detection System or ‘‘Taqman’’ assay | 1437(761) | (0.16/0.14) | offsets and age |
| Pachkowski, B. F. | 2006 | USA | Whites | population based | population based | the ABI 7700 sequence detection system or ‘‘Taqman’’ assay | 2366(1244) | (0.36/0.35) | offsets and age |
| Thyagarajan, B. | 2006 | USA | NS | population based | population based | PCR-RFLP, PCR-invader, or Sequenom | 515(193) | (0.50/0.36) | age, family history of breast cancer among first degree relatives, physical activity, body mass index |
| Zhai, X. | 2006 | China | Han Chinese | hospital based | population based | PCR-RFLP | 941(302) | ( 0.25/0.26) | age, age at menarche and menopausal |
| status | |||||||||
| Zhang, Y. | 2006 | USA | Caucasian | population based | population based | TaqMan | 5626(3039) | (0.36/0.36) | age and study site |
| Zhang, Y. | 2006 | Poland | Caucasian | population based | population based | TaqMan | 4275(1985) | (0.37/0.35) | age and study site |
| Costa, S. | 2007 | Portugal | NS | hospital based | population based | PCR-RFLP | 917(256) | (0.34/0.39) | age |
| Silva, S. N. | 2007 | Portugal | Caucasian Portuguese | hospital based | hospital based | PCR-RFLP | 697(241) | (0.31/0.34) | age at diagnosis; alcohol consumption and smoking habits |
| Ali, M. F. | 2008 | USA | NS | hospital based | hospital based | PCR-RFLP | 88(40) | (0.52/0.53) | - |
| Kipikasova, L. | 2008 | Slovakia | Caucasian | hospital based | volunteers | PCR with confronting two pair primers (PCR-CTPP) | 227(114) | (0.35/0.34) | - |
| Loizidou, M. A. | 2008 | Greece | Greek Cypriots | population based | volunteers | PCR-RFLP | 2283(1107) | ( 0.32/0.33) | - |
| Mitra, A. K. | 2008 | India | Caucasians of Indo-Europeans | hospital based | volunteers | PCR-RFLP | 375(150) | (0.39/0.53) | - |
| Saadat, M. | 2008 | Iran | Persian Muslims | hospital based | NS | PCR-RFLP | 373(186) | (0.36/0.32) | family history of breast cancer in first-degree relatives and cigarette smoking |
| Sangrajrang, S. | 2008 | Thailand | NS | hospital based | hospital based | rapid capillary PCR followed by melting curve analysis using fluorescence labeled hybridization probes in a Light Cycler | 931(507) | (0.27/0.23) | age, body mass index, age at menarche, family history of breast cancer, reproduction parameters, use of contraceptives, menopausal status, hazardous lifestyle, and education |
| Smith, T. R. | 2008 | USA | Caucasian | hospital based | hospital based | mass ARRAY system | 718(312) | (0.34/0.33) | age, family history of breast cancer, smoking history, age at menarche, age at first live birth and body mass index |
| Smith, T. R. | 2008 | USA | African-American | hospital based | hospital based | mass ARRAY system | 126(52) | (0.14/0.11) | age, family history of breast cancer, smoking history, age at menarche, age at first live birth and body mass index |
| Sobczuk, A. | 2009 | Poland | NS | NS | NS | PCR-RFLP | 256(150) | (0.55/0.57) | - |
| Syamala, V. S. | 2009 | India | NS | hospital based | hospital based | PCR-RFLP | 726(359) | (0.37/0.30) | age |
| Jakubowska, A. | 2010 | Poland | NS | NS | NS | PCR-based fragment analyses using the CEQTM 8000 Genetic DNA Analysis System and/or ethidium bromide-stained agarose gels | 607(317) | (0.35/0.39) | index, year of birth and BRCA1 mutation |
| Jelonek, K. | 2010 | Poland | Caucasian | hospital based | hospital based | PCR-RFLP | 645(94) | (0.35/0.37) | - |
| Ming-Shiean, H. | 2010 | Taiwan | NS | hospital based | hospital based | real-time PCR with the TaqMan assay system | 926(395) | (0.31/0.29) | age, age at first full-term pregnancy, cigarette smoking, body mass index, and family history |
| Romanowicz, H. | 2010 | Poland | NS | hospital based | NS | PCR-RFLP | 440(220) | (0.44/0.34) | - |
| Santos, R. A. | 2010 | Brazil | NS | NS | volunteers | PCR-RFLP | 150(65) | (0.33/0.40) | - |
| Sterpone, S. | 2010 | Italy | Caucasian | hospital based | volunteers | PCR-RFLP | 74(43) | (0.53/0.32) | - |
| Zipprich, J. | 2010 | USA | NS | population based | population based | fluorescence polarization method | 555(254) | (0.30/0.34) | menopause and age and age at menarche |
| Liu, L. | 2011 | China | Han Chinese | hospital based | population based | PCR-RFLP | 1999(995) | (0.26/0.28) | age |
| Roberts, M. R. | 2011 | USA | NS | hospital based | population based | matrix-assisted laser desorption ionization time-of-flightmass spectrometry | 2752(982) | (0.34/0.32) | age, education, race, smoking status, age at first birth, family history of breast cancer, history of benign breast disease, age at menarche and hormone therapy use |
| Hussien, Y. M. | 2012 | Egypt | NS | hospital based | hospital based | PCR-CTPP method | 200(100) | (0.37/0.30) | age |
| Al Mutairi, F. M. | 2013 | Saudi Arabia | NS | hospital based | hospital based | TaqMan SNP genotype analysis technique | 200(100) | (0.26/0.25) | - |
| Przybylowska-Sygut, K. | 2013 | Poland | NS | hospital based | population based | PCR-RFLP | 390(185) | (0.36/0.37) | - |
| Sapkota, Y. | 2013 | Canada | Caucasian | population based | population based | sequenom iPLEX Gold platform | 7225(2720) | NC | body mass index |
| Ding, p. | 2014 | China | Han Chinese | hospital based | hospital based | polymerase chain reaction-ligase detection reaction (PCR-LDR) | 1239(606) | (0.30/0.25) | Age |
| Luo, H. | 2014 | China | Han Chinese | hospital based | hospital based | PCR-CTPP | 439(194) | (0.34/0.25) | age, age at menarche, pregnancy, menopausal status, body mass index, and family history of cancer |
| McCullough, L. E. | 2014 | USA | White and Black | population based | population based | fluorescence polarization (FP) method | 1163(597) | NC | age |
| Ramadan, R. A. | 2014 | Egypt | NS | hospital based | hospital based | PCR-RFLP | 175(100) | (0.44/0.29) | age, body mass index, parity, menopausal status, age at menarche, family history of breast cancer, |
| smoking, or physical activity | |||||||||
| Shadrina, A. S | 2014 | Russia | Caucasian | NS | hospital based | real-time PCR allelic discrimination with TaqMan probes | 1222(658) | (0.36/0.31) | age |
| Macias-Gomez, N. M. | 2015 | Mexico | NS | hospital based | NS | PCR-RFLP | 686(345) | (0.29/0.23) | - |
a Definitions: Date, year of publication; NS, not state; NC, not calculable; USA, United State of America.
b Confounders in multivariate analysis.