참고문헌
- Abeliovich D, Kaduri L, Lerer I, et al (1997). The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet, 60, 505-14.
- Adank MA, Jonker MA, Kluijt I, et al (2011). CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women. J Med Genet, 48, 860-3. https://doi.org/10.1136/jmedgenet-2011-100380
- Backe J, Hofferbert S, Skawran B, et al (1999). Frequency of BRCA1 mutation 5382insC in German breast cancer patients. Gynecol Oncol, 72, 402-6. https://doi.org/10.1006/gyno.1998.5270
- Balci A, Huusko P, Pääkkonen K, et al (1999). Mutation analysis of BRCA1 and BRCA2 in Turkish cancer families: a novel mutation BRCA2 3414del4 found in male breast cancer. Eur J Cancer, 35, 707-10. https://doi.org/10.1016/S0959-8049(99)00014-3
- Bartek J, Falck J, Lukas J (2001). Chk2 kinase [mdash] a busy messenger. Nature Reviews Molecular Cell Biology 2, 877-86. https://doi.org/10.1038/35103059
- Berman DB, Costalas J, Schultz DC, et al (1996). A common mutation in BRCA2 that predisposes to a variety of cancers is found in both Jewish Ashkenazi and non-Jewish individuals. Cancer Res, 56, 3409-14.
- CHEK2 Breast Cancer Case-Control Consortium (2004). CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet, 74, 1175-82. https://doi.org/10.1086/421251
- Cybulski C, Gorski B, Huzarski T, et al (2004). CHEK2 Is a Multiorgan Cancer Susceptibility Gene. Am J Hum Genet, 75, 131-5.
- Cybulski C, Gliniewicz B, Sikorski A, et al (2007). Epistatic relationship between the cancer susceptibility genes CHEK2 and p27. Cancer Epidemiol Biomarkers Prev, 16, 572-6. https://doi.org/10.1158/1055-9965.EPI-06-0566
- Desrichard A, Bidet Y, Uhrhammer N, Bignon YJ (2011). CHEK2 contribution to hereditary breast cancer in non-BRCA families. Breast Cancer Res, 13, 19.
- Diez O, Domenech M, Alonso MC, et al (1998). Identification of the 185delAG BRCA1 mutation in a Spanish Gypsy population. Hum Genet, 103, 707-8. https://doi.org/10.1007/s004390050895
- Domagala P, Wokolorczyk D, Cybulski C, et al (2012). Different CHEK2 germline mutations are associated with distinct immunophenotypic molecular subtypes of breast cancer. Breast Cancer Res Treat, 132, 937-45. https://doi.org/10.1007/s10549-011-1635-7
- Dong X, Wang L, Taniguchi K, et al (2003). Mutations in CHEK2 associated with prostate cancer risk. Am J Hum Genet, 72, 270-80. https://doi.org/10.1086/346094
- Einarsdottir K, Humphreys K, Bonnard C, et al (2006). Linkage Disequilibrium Mapping of CHEK2: Common Variation and Breast Cancer Risk. PLoS Med, 3, 168. https://doi.org/10.1371/journal.pmed.0030168
- Gabrovska PN, Smith RA, O'Leary G, et al (2011). Investigation of the 1758G>C and 2880A>G variants within the NCOA3 gene in a breast cancer affected Australian population. Gene 482, 68-72. https://doi.org/10.1016/j.gene.2011.05.001
- Gorski B, Byrski T, Huzarski T, et al (2000). Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. Am J Hum Genet, 66, 963-8.
- Gudmundsdottir K, Ashworth A (2006). The roles of BRCA1 and BRCA2 and associated proteins in the maintenance of genomic stability. Oncogene, 25, 5864-74. https://doi.org/10.1038/sj.onc.1209874
- Hansmann T, Pliushch G, Leubner M, et al (2012). Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancer. Hum Mol Genet, 21, 4669-79. https://doi.org/10.1093/hmg/dds308
- Health Statistics Yearbook (2010). The Ministry of Health of Turkey. Available at http://www.tusak.saglik.gov.tr/saglik_istatistikleri_yilligi_2010.pdf.
- Iniesta MD, Gorin MA, Chien LC, et al (2010). Absence of CHEK2*1100delC mutation in families with hereditary breast cancer in North America. Cancer Genet Cytogenet , 202, 136-40. https://doi.org/10.1016/j.cancergencyto.2010.07.124
- Ishitobi M, Miyoshi Y, Ando A, et al (2003). Association of BRCA2 polymorphism at codon 784 (Met/Val) with breast cancer risk and prognosis. Clin Cancer Res, 9, 1376-80.
- Konstantopoulou I, Kroupis C, Ladopoulou A, et al (2000). BRCA1 mutation analysis in breast/ovarian cancer families from Greece. Hum Mutat, 16, 272-3. https://doi.org/10.1002/1098-1004(200009)16:3<272::AID-HUMU17>3.0.CO;2-4
- Krupa R, Sliwinski T, Morawiec Z, et al (2009). Association between polymorphisms of the BRCA2 gene and clinical parameters in breast cancer. Exp Oncol, 31, 250-1.
- Levy-Lahad E, Catane R, Eisenberg S, et al (1997). Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families. Am J Hum Genet, 60, 1059-67.
- Machackova E, Foretova L, Navratilova M, et al (2000). A high occurrence of BRCA1 and BRCA2 mutations among Czech hereditary breast and breast-ovarian cancer families. Cas Lek Cesk, 139, 635-7.
- Manguoglu AE, Luleci G, Ozçelik T, et al (2003). Germline mutations in the BRCA1 and BRCA2 genes in Turkish breast/ovarian cancer patients. Hum Mutat, 21, 444-5.
- Manguoğlu E, Guran S, Yamaç D, et al (2011). Genomic large rearrangement screening of BRCA1 and BRCA2 genes in high-risk Turkish breast/ovarian cancer patients by using multiplex ligation-dependent probe amplification assay. Cancer Invest, 29, 73-7. https://doi.org/10.3109/07357907.2010.512599
- Meijers-Heijboer H, van den Ouweland A, Klijn J, et al (2002). Low-penetrance susceptibility to breast cancer due to CHEK2-1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31, 55-9. https://doi.org/10.1038/ng879
- Miki Y, Swensen J, Shattuck-Eidens D, et al (1994). A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science, 266, 66-71. https://doi.org/10.1126/science.7545954
- Ozdag H, Tez M, Sayek I, et al (2000). Germ line BRCA1 and BRCA2 gene mutations in Turkish breast cancer patients. Eur J Cancer, 36, 2076-82. https://doi.org/10.1016/S0959-8049(00)00277-X
- Rohlfs EM, Learning WG, Friedman KJ, et al (1997). Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis. Clin Chem, 43, 24-9.
- Saxena S, Chakraborty A, Kaushal M, et al (2006). Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India. BMC Med Genet, 4, 75.
- Serrano-Fernandez P, Debniak T, Gorski B, et al (2009). Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk. Breast Cancer Res Treat, 117, 161-5. https://doi.org/10.1007/s10549-008-0249-1
- Shuen AY, Foulkes WD (2011). Inherited mutations in breast cancer genes--risk and response. J Mammary Gland Biol Neoplasia, 16, 3-15. https://doi.org/10.1007/s10911-011-9213-5
- Sodha N, Mantoni TS, Tavtigian SV, et al (2006). Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation. Cancer Res, 66, 8966-70. https://doi.org/10.1158/0008-5472.CAN-06-1990
- Tereschenko IV, Basham VM, Ponder BA, Pharoah PD (2002). BRCA1 and BRCA2 mutations in Russian familial breast cancer. Hum Mutat, 19, 184.
- Vahteristo P, Bartkova J, Eerola H, et al (2002). A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet, 71, 432-8. https://doi.org/10.1086/341943
- Walsh T, Casadei S, Coats KH, et al (2006). Spectrum of Mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA, 295, 1379-88. https://doi.org/10.1001/jama.295.12.1379
- Wasielewski M, Vasen H, Wijnen J, et al (2008). CHEK2 1100delC is a susceptibility allele for HNPCC-related colorectal cancer. Clin Cancer Res, 14, 4989-94. https://doi.org/10.1158/1078-0432.CCR-08-0389
- Weischer M, Bojesen SE, Ellervik C, et al (2008). CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls. J Clin Oncol, 26, 542-8. https://doi.org/10.1200/JCO.2007.12.5922
- Wooster R, Bignell G, Lancaster J, et al (1995). Identification of the breast cancer susceptibility gene BRCA2. Nature, 378, 789-92. https://doi.org/10.1038/378789a0
- Yazici H, Bitisik O, Akisik E, et al (2000). BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients. Br J Cancer, 83, 737-42. https://doi.org/10.1054/bjoc.2000.1332
- Yazici H, Glendon G, Yazici H, et al (2002). BRCA1 and BRCA2 mutations in Turkish familial and non-familial ovarian cancer patients: a high incidence of mutations in non-familial cases. Hum Mutat, 20, 28-34. https://doi.org/10.1002/humu.10090
- Zhang S, Phelan CM, Zhang P, et al (2008). Frequency of the CHEK2 1100delC mutation among women with breast cancer: an international study. Cancer Res, 68, 2154-7. https://doi.org/10.1158/0008-5472.CAN-07-5187
피인용 문헌
- Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients vol.15, pp.1, 2015, https://doi.org/10.1186/s12885-015-1516-2
- Absence of 185delAG and 6174delT Mutations among Breast Cancer Patients of Eastern India vol.16, pp.17, 2015, https://doi.org/10.7314/APJCP.2015.16.17.7929
- BRCA1 and BRCA2 Common Mutations in Iranian Breast Cancer Patients: a Meta Analysis vol.16, pp.3, 2015, https://doi.org/10.7314/APJCP.2015.16.3.1219
- Association of BRCA1, BRCA2, RAD51, and HER2 gene polymorphisms with the breast cancer risk in the Bangladeshi population vol.24, pp.2, 2017, https://doi.org/10.1007/s12282-016-0692-5
- Association Between CHEK2*1100delC and Breast Cancer: A Systematic Review and Meta-Analysis vol.22, pp.4, 2018, https://doi.org/10.1007/s40291-018-0344-x