Research progress of BRCA1 and breast cancer_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

ZHA Guosong ¹ ,  ZUO Wenshu ²

1. School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Sciences, Jinan 250000, P.R.China;
2. The Second Department of Surgery, Shandong Tumor Hospital, Jinan 250000, P.R.China;

Corresponding?author：

ZUO Wenshu, Email: cjcptzws@126.com

Keywords：

breast cancer; BRCA1 gene; medication therapy; targeted therapy

DOI：

10.7507/1007-9424.201610040

Video：

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Objective To understand breast cancer 1 (BRCA1) gene and relationship between BRCA1 gene and breast cancer, and analyze its effect on clinical comprehensive therapy of breast cancer. Method The domestic and international studies relevant BRCA1 and breast cancer in recent years were reviewed and summarized. Results BRCA1, a tumor suppressor gene, its mutations caused structural changes and functional abnormalities, which were closely related to breast cancer. And the expression situation and mutation of BRCA1 were associated with the therapeutic effect. Conclusions Mutation of BRCA1 is closely related to occurrence and development of breast cancer in female. Comprehensive therapy ideas should be found in clinical therapy according to expression or mutation of BRCA1. Further research on BTCA1 is beneficial to explore gold standard for treatment of breast cancer.

Citation： ZHA Guosong, ZUO Wenshu. Research progress of BRCA1 and breast cancer. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2017, 24(7): 900-904. doi: 10.7507/1007-9424.201610040 Copy

1.	Kotsopoulos J, Lubinski J, Salmena L, et al. Breastfeeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res, 2012, 14(2): R42.
2.	Miki Y, Swensen J, Shattuck-Eidens D, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science, 1994, 266(5182): 66-71.
3.	Hall JM, Lee MK, Newman B, et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science, 1990, 250(4988): 1684-1689.
4.	Jing F, Zhang J, Tao J, et al. Hypermethylation of tumor suppressor genes BRCA1, p16 and 14-3-3s in serum of sporadic breast cancer patients. Onkologie, 2007, 30: 14-19.
5.	Hashizume R, Fukuda M, Maeda I, et al. The RING heterodimer BRCA1-BARD1 is a ubiquitin ligase inactivated by a breast cancer-derived mutation. J Biol Chem, 2001, 276(18): 14537-14540.
6.	許奕. BRCA1 的研究進展. 北京醫學, 2005, 27(1): 50-52.
7.	Somasundaram K. Breast cancer gene 1 (BRCA1): role in cell cycle regulation and DNA repair-perhaps through transcription. J Cell Biochem, 2003, 88(6): 1084-1091.
8.	Shiozaki EN, Gu L, Yan N, et al. Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling. Mol Cell, 2004, 14(3): 405-412.
9.	Wang RH, Yu H, Deng CX. A requirement for breast-cancer-associated gene 1 (BRCA1) in the spindle checkpoint. Proc Natl Acad Sci U S A, 2004, 101(49): 17108-17113.
10.	Gowen LC, Avrutskaya AV, Latour AM, et al. BRCA1 required for transcription-coupled repair of oxidative DNA damage. Science, 1998, 281(5379): 1009-1012.
11.	Wu J, Lu LY, Yu X. The role of BRCA1 in DNA damage response. Protein Cell, 2010, 1(2): 117-123.
12.	Lou Z, Chini CC, Minter-Dykhouse K, et al. Mediator of DNA damage checkpoint protein 1 regulates BRCA1 localization and phosphorylation in DNA damage checkpoint control. J Biol Chem, 2003, 278(16): 13599-13602.
13.	Lee JH, Goodarzi AA, Jeggo PA, et al. 53BP1 promotes ATM activity through direct interactions with the MRN complex. EMBO J, 2010, 29(3): 574-585.
14.	Zhu Q, Pao GM, Huynh AM, et al. BRCA1 tumour suppression occurs via heterochromatin-mediated silencing. Nature, 2011, 477(7363): 179-184.
15.	Park JY, Zhang F, Andreassen PR. PALB2: the hub of a network of tumor suppressors involved in DNA damage responses. Biochim Biophys Acta, 2014, 1846(1): 263-275.
16.	Scully R, Puget N, Vlasakova K. DNA polymerase stalling, sister chromatid recombination and the BRCA genes. Oncogene, 2000, 19(53): 6176-6183.
17.	Furlan D, Sahnane N, Bernasconi B, et al. APC alterations are frequently involved in the pathogenesis of acinar cell carcinoma of the pancreas, mainly through gene loss and promoter hypermethylation. Virchows Arch, 2014, 464(5): 553-564.
18.	郭媛媛, 李俊芝, 張巍. 新疆漢族、維吾爾族散發性乳腺癌患者 BRCA1 基因甲基化及其臨床意義的研究. 新疆醫科大學學報, 016, 39(2): 155-159.
19.	張楠, 孫剛, 馬斌林. 散發性乳腺癌患者乳腺癌易感基因 1 mRNA 與蛋白的表達變化差異及意義. 中華實驗外科雜志, 2016, 33(4): 884-887.
20.	Saelee P, Chaiwerawattana A, Ogawa K, et al. Clinicopathological significance of BRCA1 promoter hypermethylation in Thai breast cancer patients. Asian Pac J Cancer Prev, 2014, 15(24): 10585-10589.
21.	Al-Moghrabi N, Nofel A, Al-Yousef N, et al. The molecular significance of methylated BRCA1 promoter in white blood cells of cancer-free females. BMC Cancer, 2014, 14: 830.
22.	Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet, 2003, 72(5): 1117-1130.
23.	Pennington KP, Swisher EM. Hereditary ovarian cancer: beyond the usual suspects. Gynecol Oncol, 2012, 124(2): 347-353.
24.	Maillet P, Chappuis PO, Khoshbeen-Boudal M, et al. Twenty-three novel BRCA1 and BRCA2 sequence variations identified in a cohort of Swiss breast and ovarian cancer families. Cancer Genet Cytogenet, 2006, 169(1): 62-68.
25.	Foulkes WD, Stefansson IM, Chappuis PO, et al. Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer. J Natl Cancer Inst, 2003, 95(19): 1482-1485.
26.	Mavaddat N, Peock S, Frost D, et al. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst, 2013, 105(11): 812-822.
27.	Evers B, Schut E, van der Burg E, et al. A high-throughput pharmaceutical screen identifies compounds with specific toxicity against BRCA2-deficient tumors. Clin Cancer Res, 2010, 16(1): 99-108.
28.	Wang L, Wei J, Qian X, et al. ERCC1 and BRCA1 mRNA expression levels in metastatic malignant effusions is associated with chemosensitivity to cisplatin and/or docetaxel. BMC Cancer, 2008, 8: 97.
29.	Lafarge S, Sylvain V, Ferrara M, et al. Inhibition of BRCA1 leads to increased chemoresistance to microtubule-interfering agents, an effect that involves the JNK pathway. Oncogene,2001, 20(45): 6597-6606.
30.	Byrski T, Dent R, Blecharz P, et al. Results of a phase Ⅱ open-label, non-randomized trial of cisplatin chemotherapy in patients with BRCA1-positive metastatic breast cancer. Breast Cancer Res, 2012, 14(4): R110.
31.	Byrski T, Huzarski T, Dent R, et al. Pathologic complete response to neoadjuvant cisplatin in BRCA1-positive breast cancer patients. Breast Cancer Res Treat, 2014, 147(2): 401-405.
32.	von Minckwitz G, Schneeweiss A, Loibl S, et al. Neoadjuvant carboplatin in patients with triple-negative and HER2-positive early breast cancer (GeparSixto; GBG 66): a randomised phase 2 trial. Lancet Oncol, 2014, 15(7): 747-756.
33.	馬金柱. 乳腺癌與 BRCA1 及 BRCA2 基因相關性研究進展. 內蒙古醫學雜志, 2012, 44(10): 1212-1214.
34.	吳晟, 王立夫. 人類腫瘤中常見的基因突變與分子靶向治療的意義. 內科理論與實踐, 2015, 10(3): 221-225.
35.	劉笑然, 李慧平. BRCA1、BRCA2 基因突變與乳腺癌風險預測及治療. 癌癥進展, 2015, 13(2): 114-119.
36.	Curtin N. PARP inhibitors for anticancer therapy. Biochem Soc Trans, 2014, 42(1): 82-88.
37.	Phillips KA, Milne RL, Rookus MA, et al. Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. J Clin Oncol, 2013, 31(25): 3091-3099.
38.	Gronwald J , Robidoux A , Kim-Sing C, et al. Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat, 2014, 146(2): 421-427.
39.	曹路路, 孫子家, 管曉翔. BRCA1/2 突變型乳腺癌的治療策略. 癌癥進展, 2015, 13(5): 466-470.
40.	Lee JH, Paull TT. ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex. Science, 2005, 308(5721): 551-554.
41.	Pristauz G, Petru E, Stacher E, et al. Androgen receptor expression in breast cancer patients tested for BRCA1 and BRCA2 mutations. Histopathology, 2010, 57(6): 877-884.

1. Kotsopoulos J, Lubinski J, Salmena L, et al. Breastfeeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res, 2012, 14(2): R42.
2. Miki Y, Swensen J, Shattuck-Eidens D, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science, 1994, 266(5182): 66-71.
3. Hall JM, Lee MK, Newman B, et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science, 1990, 250(4988): 1684-1689.
4. Jing F, Zhang J, Tao J, et al. Hypermethylation of tumor suppressor genes BRCA1, p16 and 14-3-3s in serum of sporadic breast cancer patients. Onkologie, 2007, 30: 14-19.
5. Hashizume R, Fukuda M, Maeda I, et al. The RING heterodimer BRCA1-BARD1 is a ubiquitin ligase inactivated by a breast cancer-derived mutation. J Biol Chem, 2001, 276(18): 14537-14540.
6. 許奕. BRCA1 的研究進展. 北京醫學, 2005, 27(1): 50-52.
7. Somasundaram K. Breast cancer gene 1 (BRCA1): role in cell cycle regulation and DNA repair-perhaps through transcription. J Cell Biochem, 2003, 88(6): 1084-1091.
8. Shiozaki EN, Gu L, Yan N, et al. Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling. Mol Cell, 2004, 14(3): 405-412.
9. Wang RH, Yu H, Deng CX. A requirement for breast-cancer-associated gene 1 (BRCA1) in the spindle checkpoint. Proc Natl Acad Sci U S A, 2004, 101(49): 17108-17113.
10. Gowen LC, Avrutskaya AV, Latour AM, et al. BRCA1 required for transcription-coupled repair of oxidative DNA damage. Science, 1998, 281(5379): 1009-1012.
11. Wu J, Lu LY, Yu X. The role of BRCA1 in DNA damage response. Protein Cell, 2010, 1(2): 117-123.
12. Lou Z, Chini CC, Minter-Dykhouse K, et al. Mediator of DNA damage checkpoint protein 1 regulates BRCA1 localization and phosphorylation in DNA damage checkpoint control. J Biol Chem, 2003, 278(16): 13599-13602.
13. Lee JH, Goodarzi AA, Jeggo PA, et al. 53BP1 promotes ATM activity through direct interactions with the MRN complex. EMBO J, 2010, 29(3): 574-585.
14. Zhu Q, Pao GM, Huynh AM, et al. BRCA1 tumour suppression occurs via heterochromatin-mediated silencing. Nature, 2011, 477(7363): 179-184.
15. Park JY, Zhang F, Andreassen PR. PALB2: the hub of a network of tumor suppressors involved in DNA damage responses. Biochim Biophys Acta, 2014, 1846(1): 263-275.
16. Scully R, Puget N, Vlasakova K. DNA polymerase stalling, sister chromatid recombination and the BRCA genes. Oncogene, 2000, 19(53): 6176-6183.
17. Furlan D, Sahnane N, Bernasconi B, et al. APC alterations are frequently involved in the pathogenesis of acinar cell carcinoma of the pancreas, mainly through gene loss and promoter hypermethylation. Virchows Arch, 2014, 464(5): 553-564.
18. 郭媛媛, 李俊芝, 張巍. 新疆漢族、維吾爾族散發性乳腺癌患者 BRCA1 基因甲基化及其臨床意義的研究. 新疆醫科大學學報, 016, 39(2): 155-159.
19. 張楠, 孫剛, 馬斌林. 散發性乳腺癌患者乳腺癌易感基因 1 mRNA 與蛋白的表達變化差異及意義. 中華實驗外科雜志, 2016, 33(4): 884-887.
20. Saelee P, Chaiwerawattana A, Ogawa K, et al. Clinicopathological significance of BRCA1 promoter hypermethylation in Thai breast cancer patients. Asian Pac J Cancer Prev, 2014, 15(24): 10585-10589.
21. Al-Moghrabi N, Nofel A, Al-Yousef N, et al. The molecular significance of methylated BRCA1 promoter in white blood cells of cancer-free females. BMC Cancer, 2014, 14: 830.
22. Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet, 2003, 72(5): 1117-1130.
23. Pennington KP, Swisher EM. Hereditary ovarian cancer: beyond the usual suspects. Gynecol Oncol, 2012, 124(2): 347-353.
24. Maillet P, Chappuis PO, Khoshbeen-Boudal M, et al. Twenty-three novel BRCA1 and BRCA2 sequence variations identified in a cohort of Swiss breast and ovarian cancer families. Cancer Genet Cytogenet, 2006, 169(1): 62-68.
25. Foulkes WD, Stefansson IM, Chappuis PO, et al. Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer. J Natl Cancer Inst, 2003, 95(19): 1482-1485.
26. Mavaddat N, Peock S, Frost D, et al. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst, 2013, 105(11): 812-822.
27. Evers B, Schut E, van der Burg E, et al. A high-throughput pharmaceutical screen identifies compounds with specific toxicity against BRCA2-deficient tumors. Clin Cancer Res, 2010, 16(1): 99-108.
28. Wang L, Wei J, Qian X, et al. ERCC1 and BRCA1 mRNA expression levels in metastatic malignant effusions is associated with chemosensitivity to cisplatin and/or docetaxel. BMC Cancer, 2008, 8: 97.
29. Lafarge S, Sylvain V, Ferrara M, et al. Inhibition of BRCA1 leads to increased chemoresistance to microtubule-interfering agents, an effect that involves the JNK pathway. Oncogene,2001, 20(45): 6597-6606.
30. Byrski T, Dent R, Blecharz P, et al. Results of a phase Ⅱ open-label, non-randomized trial of cisplatin chemotherapy in patients with BRCA1-positive metastatic breast cancer. Breast Cancer Res, 2012, 14(4): R110.
31. Byrski T, Huzarski T, Dent R, et al. Pathologic complete response to neoadjuvant cisplatin in BRCA1-positive breast cancer patients. Breast Cancer Res Treat, 2014, 147(2): 401-405.
32. von Minckwitz G, Schneeweiss A, Loibl S, et al. Neoadjuvant carboplatin in patients with triple-negative and HER2-positive early breast cancer (GeparSixto; GBG 66): a randomised phase 2 trial. Lancet Oncol, 2014, 15(7): 747-756.
33. 馬金柱. 乳腺癌與 BRCA1 及 BRCA2 基因相關性研究進展. 內蒙古醫學雜志, 2012, 44(10): 1212-1214.
34. 吳晟, 王立夫. 人類腫瘤中常見的基因突變與分子靶向治療的意義. 內科理論與實踐, 2015, 10(3): 221-225.
35. 劉笑然, 李慧平. BRCA1、BRCA2 基因突變與乳腺癌風險預測及治療. 癌癥進展, 2015, 13(2): 114-119.
36. Curtin N. PARP inhibitors for anticancer therapy. Biochem Soc Trans, 2014, 42(1): 82-88.
37. Phillips KA, Milne RL, Rookus MA, et al. Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. J Clin Oncol, 2013, 31(25): 3091-3099.
38. Gronwald J , Robidoux A , Kim-Sing C, et al. Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat, 2014, 146(2): 421-427.
39. 曹路路, 孫子家, 管曉翔. BRCA1/2 突變型乳腺癌的治療策略. 癌癥進展, 2015, 13(5): 466-470.
40. Lee JH, Paull TT. ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex. Science, 2005, 308(5721): 551-554.
41. Pristauz G, Petru E, Stacher E, et al. Androgen receptor expression in breast cancer patients tested for BRCA1 and BRCA2 mutations. Histopathology, 2010, 57(6): 877-884.

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