BRCA1 and TP53 mutations in ovarian cancer: Molecular genetic insights and updated situations in Thailand
DOI:
https://doi.org/10.14456/gag.2018.4Keywords:
ovarian cancer; BRCA1; TP53; mutations; ThailandAbstract
Ovarian cancer is the sixth most common cancer among Thai women. It is the most lethal gynecologic cancer worldwide. The incident rate increases in women over 45 years old. Several genetic factors linked to ovarian cancer have been identified. Previous reports showed that women with deleterious mutations in BRCA1 gene have a high risk of developing ovarian tumors during their lifetime. TP53 mutation is also recognized as one of genetic factors associated with ovarian cancer. Around 50% of ovarian cancer patients contain various mutations in the TP53 gene resulting in the overexpression of the mutated proteins. Additionally, mutations of BRCA1 together with TP53 were found in the most aggressive subtype high-grade serous ovarian cancer (HGSOC). The prevalence of BRCA1 and TP53 mutations in breast and ovarian cancers has been reported in many population groups. However, the mutation types seem to be different depending on ethnicity. In Thailand, the significance of both BRCA1 and TP53 gene mutations on ovarian cancer initiation and progression has not been completely elucidated. This review points out the incidence and association between BRCA1 as well as TP53 mutations and ovarian cancer. Cumulative data obtained from Thai population are shown. The knowledge may help for improvement of genetic screening, prognosis and treatment selection for ovarian cancers in our country in the near future.
References
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Catteau A, Morris JR (2002) BRCA1 methylation: a significant role in tumour development? Semin Cancer Biol 12: 359–371.
Cavallone L, Arcand SL, Maugard C, Ghadirian P, Mes-Masson AM, Provencher D, Tonin PN (2008) Haplotype analysis of TP53 polymorphisms, Arg72Pro and Ins16, in BRCA1 and BRCA2 mutation carriers of French Canadian descent. BMC Cancer 8: 96.
Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25: 1329–1333.
Chirasophon S, Manchana T, Teerapakpinyo C (2017) High-risk epithelial ovarian cancer patients for hereditary ovarian cancer. J Obstet Gynaecol Res 43: 929–934.
Cole AJ, Dwight T, Gill AJ, Dickson KA, Zhu Y, Clarkson A, Gard GB, Maidens J, Valmadre S, Clifton-Bligh R, et al. (2016) Assessing mutant p53 in primary high-grade serous ovarian cancer using immunohistochemistry and massively parallel sequencing. Sci Rep 6: 26191.
Dann RB, DeLoia JA, Timms KM, Zorn KK, Potter J, Flake DD 2nd, Lanchbury JS, Krivak TC (2012) BRCA1/2 mutations and expression: response to platinum chemotherapy in patients with advanced stage epithelial ovarian cancer. Gynecol Oncol 125: 677–682.
De Jaeghere E, Vandecasteele K, Claes K, Makar A, Tummers P, Cocquyt V, Denys H (2017) Incorporating PARP-inhibitors into clinical routine: a tailored treatment strategy to tackle ovarian cancer. Acta Clin Belg 72: 6–11.
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Lane DP, Cheok CF, Lain S (2010) p53-based cancer therapy. Cold Spring Harb Perspect Biol 2: a001222.
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Liede A, Narod SA (2002) Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2. Hum Mutat 20: 413–424.
Liu L, Segura A, Hagemann AR (2015) Obesity education strategies for cancer prevention in women's health. Curr Obstet Gynecol Rep 4: 249–258.
Lixia M, Zhijian C, Chao S, Chaojiang G, Congyi Z (2007) Alternative splicing of breast cancer associated gene BRCA1 from breast cancer cell line. J Biochem Mol Biol 40: 15–21.
Luan NN, Wu QJ, Gong TT, Vogtmann E, Wang YL, Lin B (2013) Breastfeeding and ovarian cancer risk: a meta-analysis of epidemiologic studies. Am J Clin Nutr 98: 1020–1031.
Ma X, Hui Y, Lin L, Wu Y, Zhang X, Qin X (2016) Possible relevance of tumor-related genes mutation to malignant transformation of endometriosis. Eur J Gynaecol Oncol 37: 89–94.
May P, May E (1999) Twenty years of p53 research: structural and functional aspects of the p53 protein. Oncogene 18: 7621–7636.
Narod SA, Foulkes WD (2004) BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 4: 665–676.
Narod SA, Salmena L (2011) BRCA1 and BRCA2 mutations and breast cancer. Discov Med 12: 445–453.
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Petitjean A, Mathe E, Kato S, Ishioka C, Tavtigian SV, Hainaut P, Olivier M (2007) Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. Hum Mutat 28: 622–629.
Petrucelli N, Daly MB, Feldman GL (2010) Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2. Genet Med 12: 245–259.
Pongsavee M, Yamkamon V, Dakeng S, O-charoenrat P, Smith DR, Saunders GF, Patmasiriwat P (2009) The BRCA1 3'-UTR: 5711+421T/T_5711+1286T/T genotype is a possible breast and ovarian cancer risk factor. Genet Test Mol Biomarkers 13: 307–317.
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Rivlin N, Brosh R, Oren M, Rotter V (2011) Mutations in the p53 tumor suppressor gene: important milestones at the various steps of tumorigenesis. Genes Cancer 2: 466–474.
Rudaitis V, Zvirblis T, Kanopiene D, Janulynaite D, Griskevicius L, Janavicius R (2014) BRCA1/2 mutation status is an independent factor of improved survival for advanced (stage III-IV) ovarian cancer. Int J Gynecol Cancer 24: 1395–1400.
Saha T, Kar RK, Sa G (2015) Structural and sequential context of p53: a review of experimental and theoretical evidence. Prog Biophys Mol Biol 117: 250–263.
Scully R, Xie A, Nagaraju G (2004) Molecular functions of BRCA1 in the DNA damage response. Cancer Biol Ther 3: 521–527.
Smith HJ, Walters Haygood CL, Arend RC, Leath CA 3rd, Straughn JM Jr (2015) PARP inhibitor maintenance therapy for patients with platinum-sensitive recurrent ovarian cancer: a cost-effectiveness analysis. Gynecol Oncol 139: 59–62.
Stratton JF, Pharoah P, Smith SK, Easton D, Ponder BA (1998) A systematic review and meta-analysis of family history and risk of ovarian cancer. Br J Obstet Gynaecol 105: 493–499.
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Surget S, Khoury MP, Bourdon JC (2013) Uncovering the role of p53 splice variants in human malignancy: a clinical perspective. Onco Targets Ther 7: 57–68.
Talos F, Moll UM (2010) Role of the p53 family in stabilizing the genome and preventing polyploidization. Adv Exp Med Biol 676: 73–91.
Tan DS, Kaye SB (2015) Chemotherapy for patients with BRCA1 and BRCA2-mutated ovarian cancer: same or different? Am Soc Clin Oncol Educ Book: 114–121.
Tutt A, Ashworth A (2002) The relationship between the roles of BRCA genes in DNA repair and cancer predisposition. Trends Mol Med 8: 571–576.
Venkitaraman AR (2002) Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell 108: 171–182.
Wang Z, Sun Y (2010) Targeting p53 for novel anticancer therapy. Transl Oncol 3: 1–12.
Welcsh PL, Owens KN, King MC (2000) Insights into the functions of BRCA1 and BRCA2. Trends Genet 16: 69–74.
Wilailak S, Lertchaipattanakul N (2016) The epidemiologic status of gynecologic cancer in Thailand. J Gynecol Oncol 27: e65.
Yarden RI, Friedman E, Metsuyanim S, Olender T, Ben-Asher E, Papa MZ (2010) Single-nucleotide polymorphisms in the p53 pathway genes modify cancer risk in BRCA1 and BRCA2 carriers of Jewish-Ashkenazi descent. Mol Carcinog 49: 545–555.
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Bernards SS, Norquist BM, Harrell MI, Agnew KJ, Lee MK, Walsh T, Swisher EM (2016) Genetic characterization of early onset ovarian carcinoma. Gynecol Oncol 140: 221–225.
Catteau A, Morris JR (2002) BRCA1 methylation: a significant role in tumour development? Semin Cancer Biol 12: 359–371.
Cavallone L, Arcand SL, Maugard C, Ghadirian P, Mes-Masson AM, Provencher D, Tonin PN (2008) Haplotype analysis of TP53 polymorphisms, Arg72Pro and Ins16, in BRCA1 and BRCA2 mutation carriers of French Canadian descent. BMC Cancer 8: 96.
Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25: 1329–1333.
Chirasophon S, Manchana T, Teerapakpinyo C (2017) High-risk epithelial ovarian cancer patients for hereditary ovarian cancer. J Obstet Gynaecol Res 43: 929–934.
Cole AJ, Dwight T, Gill AJ, Dickson KA, Zhu Y, Clarkson A, Gard GB, Maidens J, Valmadre S, Clifton-Bligh R, et al. (2016) Assessing mutant p53 in primary high-grade serous ovarian cancer using immunohistochemistry and massively parallel sequencing. Sci Rep 6: 26191.
Dann RB, DeLoia JA, Timms KM, Zorn KK, Potter J, Flake DD 2nd, Lanchbury JS, Krivak TC (2012) BRCA1/2 mutations and expression: response to platinum chemotherapy in patients with advanced stage epithelial ovarian cancer. Gynecol Oncol 125: 677–682.
De Jaeghere E, Vandecasteele K, Claes K, Makar A, Tummers P, Cocquyt V, Denys H (2017) Incorporating PARP-inhibitors into clinical routine: a tailored treatment strategy to tackle ovarian cancer. Acta Clin Belg 72: 6–11.
Duffy MJ, Synnott NC, Crown J (2017) Mutant p53 as a target for cancer treatment. Eur J Cancer 83: 258–265.
Gadducci A, Di Cristofano C, Zavaglia M, Giusti L, Menicagli M, Cosio S, Naccarato AG, Genazzani AR, Bevilacqua G, Cavazzana AO (2006) P53 gene status in patients with advanced serous epithelial ovarian cancer in relation to response to paclitaxel- plus platinum-based chemotherapy and long-term clinical outcome. Anticancer Res 26: 687–693.
Harris SL, Levine AJ (2005) The p53 pathway: positive and negative feedback loops. Oncogene 24: 2899–2908.
He C, Li L, Guan X, Xiong L, Miao X (2016) Mutant p53 gain of function and chemoresistance: the role of mutant p53 in response to clinical chemotherapy. Chemotherapy 62: 43–53.
Hoffman BL, Schorge JO, Schaffer JI, Halvorson LM, Bradshaw KD, Cunningham FG (eds) (2012) Epithelial ovarian cancer. In: Williams Gynecology. 2nd ed. McGraw Hill Medical, New York, pp 853–878.
Hollstein M, Sidransky D, Vogelstein B, Harris CC (1991) p53 mutations in human cancers. Science 253: 49–53.
Huszno J, Budryk M, Kołosza Z, Nowara E (2013) The influence of BRCA1/BRCA2 mutations on toxicity related to chemotherapy and radiotherapy in early breast cancer patients. Oncology 85: 278–282.
Imsamran W, Chaiwerawattana A, Waingnon S, Pongnikorn D, Suwanrungrung K, Sangrajrang S, Buasom R (2015) Cancer in Thailand Volume VIII, 2010-2012. National Cancer Institute of Thailand, Bangkok, pp 5–12.
Ingvarsson S (1999) Molecular genetics of breast cancer progression. Semin Cancer Biol 9: 277–288.
Isobe M, Emanuel BS, Givol D, Oren M, Croce CM (1986) Localization of gene for human p53 tumour antigen to band 17p13. Nature 320: 84–85.
Janavičius R (2010) Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. EPMA J 1: 397–412.
Karakasis K, Burnier JV, Bowering V, Oza AM, Lheureux S (2016) Ovarian cancer and BRCA1/2 testing: opportunities to improve clinical care and disease prevention. Front Oncol 6: 119.
Khuhaprema T, Attasara P, Sriplung H, Waingnon S, Sangrajrang (2013) Cancer in Thailand Volume VII, 2007-2009. National Cancer Institute of Thailand, Bangkok, pp 8–14.
Khuhaprema T, Attasara P, Sriplung H, Waingnon S, Sumitsawan Y, Sangrajrang S (2012) Cancer in Thailand Volume VI, 2004-2006. National Cancer Institute of Thailand, Bangkok, pp 3–9.
Khuhaprema T, Srivatanakul P, Attasara P, Sriplung H, Waingnon S, Sumitsawan Y (2010) Cancer in Thailand Volume V, 2001-2003. National Cancer Institute of Thailand, Bangkok, pp 3–9.
Köbel M, Huntsman D, Gilks CB (2008) Critical molecular abnormalities in high-grade serous carcinoma of the ovary. Expert Rev Mol Med 10: e22.
Kotsopoulos J, Lubinski J, Gronwald J, Cybulski C, Demsky R, Neuhausen SL, Kim-Sing C, Tung N, Friedman S, Senter L, et al. (2015) Factors influencing ovulation and the risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. Int J Cancer 137: 1136–1146.
Kuusisto KM, Bebel A, Vihinen M, Schleutker J, Sallinen SL (2011) Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals. Breast Cancer Res 13: R20.
Laframboise S, Chapman W, McLaughlin J, Andrulis IL (2000) p53 mutations in epithelial ovarian cancers: possible role in predicting chemoresistance. Cancer J 6: 302–308.
Lane DP, Cheok CF, Lain S (2010) p53-based cancer therapy. Cold Spring Harb Perspect Biol 2: a001222.
Ledermann JA (2016) PARP inhibitors in ovarian cancer. Ann Oncol 27: i40–i44.
Ledermann J, Harter P, Gourley C, Friedlander M, Vergote I, Rustin G, Scott CL, Meier W, Shapira-Frommer R, Safra T, et al. (2014) Olaparib maintenance therapy in patients with platinum-sensitive relapsed serous ovarian cancer: a preplanned retrospective analysis of outcomes by BRCA status in a randomised phase 2 trial. Lancet Oncol 15: 852–861.
Levine AJ, Momand J, Finlay CA (1991) The p53 tumour suppressor gene. Nature 351: 453–456.
Liede A, Narod SA (2002) Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2. Hum Mutat 20: 413–424.
Liu L, Segura A, Hagemann AR (2015) Obesity education strategies for cancer prevention in women's health. Curr Obstet Gynecol Rep 4: 249–258.
Lixia M, Zhijian C, Chao S, Chaojiang G, Congyi Z (2007) Alternative splicing of breast cancer associated gene BRCA1 from breast cancer cell line. J Biochem Mol Biol 40: 15–21.
Luan NN, Wu QJ, Gong TT, Vogtmann E, Wang YL, Lin B (2013) Breastfeeding and ovarian cancer risk: a meta-analysis of epidemiologic studies. Am J Clin Nutr 98: 1020–1031.
Ma X, Hui Y, Lin L, Wu Y, Zhang X, Qin X (2016) Possible relevance of tumor-related genes mutation to malignant transformation of endometriosis. Eur J Gynaecol Oncol 37: 89–94.
May P, May E (1999) Twenty years of p53 research: structural and functional aspects of the p53 protein. Oncogene 18: 7621–7636.
Narod SA, Foulkes WD (2004) BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 4: 665–676.
Narod SA, Salmena L (2011) BRCA1 and BRCA2 mutations and breast cancer. Discov Med 12: 445–453.
Neungton N, Neungton S, Leelaphatanadit C, Dangrat C, Soiampornkul R (2002) p53 tumor suppressor gene mutation in ovarian cancer in Thai patients. J Med Assoc Thai 85: 658–667.
Norquist BM, Harrell MI, Brady MF, Walsh T, Lee MK, Gulsuner S, Bernards SS, Casadei S, Yi Q, Burger RA, et al. (2016) Inherited mutations in women with ovarian carcinoma. JAMA Oncol 2: 482–490.
Olivier M, Hollstein M, Hainaut P (2010) TP53 mutations in human cancers: origins, consequences, and clinical use. Cold Spring Harb Perspect Biol 2: a001008.
Osorio A, Martínez-Delgado B, Pollán M, Cuadros M, Urioste M, Torrenteras C, Melchor L, Díez O, De La Hoya M, Velasco E, et al. (2006) A haplotype containing the p53 polymorphisms Ins16bp and Arg72Pro modifies cancer risk in BRCA2 mutation carriers. Hum Mutat 27: 242–248.
Oza AM, Cibula D, Benzaquen AO, Poole C, Mathijssen RH, Sonke GS, Colombo N, Špaček J, Vuylsteke P, Hirte H, et al. (2015) Olaparib combined with chemotherapy for recurrent platinum-sensitive ovarian cancer: a randomised phase 2 trial. Lancet Oncol 16: 87–97.
Paik ES, Lee YY, Lee EJ, Choi CH, Kim TJ, Lee JW, Bae DS, Kim BG (2015) Survival analysis of revised 2013 FIGO staging classification of epithelial ovarian cancer and comparison with previous FIGO staging classification. Obstet Gynecol Sci 58: 124–134.
Patmasiriwat P, Bhothisuwan K, Sinilnikova OM, Chopin S, Methakijvaroon S, Badzioch M, Padungsutt P, Vattanaviboon P, Vattanasapt V, Szabo C, et al. (2002) Analysis of breast cancer susceptibility genes BRCA1 and BRCA2 in Thai familial and isolated early-onset breast and ovarian cancer. Hum Mutat 20: 230.
Petitjean A, Mathe E, Kato S, Ishioka C, Tavtigian SV, Hainaut P, Olivier M (2007) Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. Hum Mutat 28: 622–629.
Petrucelli N, Daly MB, Feldman GL (2010) Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2. Genet Med 12: 245–259.
Pongsavee M, Yamkamon V, Dakeng S, O-charoenrat P, Smith DR, Saunders GF, Patmasiriwat P (2009) The BRCA1 3'-UTR: 5711+421T/T_5711+1286T/T genotype is a possible breast and ovarian cancer risk factor. Genet Test Mol Biomarkers 13: 307–317.
Poole AJ, Li Y, Kim Y, Lin SC, Lee WH, Lee EY (2006) Prevention of Brca1-mediated mammary tumorigenesis in mice by a progesterone antagonist. Science 314: 1467–1470.
Prat J, Franceschi S (2014) Cancers of the female reproductive organs. In: Stewart BW, Wild CP (eds) World Cancer Report 2014. World Health Organization, Lyon, pp 465–481.
Rivlin N, Brosh R, Oren M, Rotter V (2011) Mutations in the p53 tumor suppressor gene: important milestones at the various steps of tumorigenesis. Genes Cancer 2: 466–474.
Rudaitis V, Zvirblis T, Kanopiene D, Janulynaite D, Griskevicius L, Janavicius R (2014) BRCA1/2 mutation status is an independent factor of improved survival for advanced (stage III-IV) ovarian cancer. Int J Gynecol Cancer 24: 1395–1400.
Saha T, Kar RK, Sa G (2015) Structural and sequential context of p53: a review of experimental and theoretical evidence. Prog Biophys Mol Biol 117: 250–263.
Scully R, Xie A, Nagaraju G (2004) Molecular functions of BRCA1 in the DNA damage response. Cancer Biol Ther 3: 521–527.
Smith HJ, Walters Haygood CL, Arend RC, Leath CA 3rd, Straughn JM Jr (2015) PARP inhibitor maintenance therapy for patients with platinum-sensitive recurrent ovarian cancer: a cost-effectiveness analysis. Gynecol Oncol 139: 59–62.
Stratton JF, Pharoah P, Smith SK, Easton D, Ponder BA (1998) A systematic review and meta-analysis of family history and risk of ovarian cancer. Br J Obstet Gynaecol 105: 493–499.
Suh DH, Kim TH, Kim JW, Kim SY, Kim HS, Lee TS, Chung HH, Kim YB, Park NH, Song YS (2013) Improvements to the FIGO staging for ovarian cancer: reconsideration of lymphatic spread and intraoperative tumor rupture. J Gynecol Oncol 24: 352–358.
Surget S, Khoury MP, Bourdon JC (2013) Uncovering the role of p53 splice variants in human malignancy: a clinical perspective. Onco Targets Ther 7: 57–68.
Talos F, Moll UM (2010) Role of the p53 family in stabilizing the genome and preventing polyploidization. Adv Exp Med Biol 676: 73–91.
Tan DS, Kaye SB (2015) Chemotherapy for patients with BRCA1 and BRCA2-mutated ovarian cancer: same or different? Am Soc Clin Oncol Educ Book: 114–121.
Tutt A, Ashworth A (2002) The relationship between the roles of BRCA genes in DNA repair and cancer predisposition. Trends Mol Med 8: 571–576.
Venkitaraman AR (2002) Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell 108: 171–182.
Wang Z, Sun Y (2010) Targeting p53 for novel anticancer therapy. Transl Oncol 3: 1–12.
Welcsh PL, Owens KN, King MC (2000) Insights into the functions of BRCA1 and BRCA2. Trends Genet 16: 69–74.
Wilailak S, Lertchaipattanakul N (2016) The epidemiologic status of gynecologic cancer in Thailand. J Gynecol Oncol 27: e65.
Yarden RI, Friedman E, Metsuyanim S, Olender T, Ben-Asher E, Papa MZ (2010) Single-nucleotide polymorphisms in the p53 pathway genes modify cancer risk in BRCA1 and BRCA2 carriers of Jewish-Ashkenazi descent. Mol Carcinog 49: 545–555.
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Published
2018-12-28
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Review Articles
