Hereditary Breast and Ovarian Cancer Syndrome
Authors:
K. Petrakova 1; M. Palacova 1; M. Schneiderová 2; M. Standara 2
Authors place of work:
Klinika komplexní onkologické péče, Masarykův onkologický ústav, Brno
1; Oddělení radiologie, Masarykův onkologický ústav, Brno
2
Published in the journal:
Klin Onkol 2016; 29(Supplementum 1): 14-21
Category:
Review
doi:
https://doi.org/10.14735/amko2016S14
Summary
Population with hereditary breast and ovarian cancer syndrome, i.e. BRCA1/2 mutation carriers, are at higher risk of developing breast and ovarian cancer as well as other solid tumours such as pancreatic cancer, prostate cancer and melanoma. With the increasing experience, screening recommendations and preventive strategies including prophylactic surgery are being settled. Surveillance of women with hereditary breast cancer syndrome comprises clinical breast examination every six months, breast ultrasound and MRI in patients aged 25 to 29 and MRI and mammography in women aged 30 to 65. Screening of pancreatic cancer should be considered in BRCA1/2 mutation carriers, who have two cases of pancreatic cancer in their family lineage or one first-degree relative with pancreatic cancer. Prostate cancer screening should be recommended to BRCA2 carriers from the age of 40 onwards and it should be considered in BRCA1 carriers as well. Screening for melanoma should be recommended on an individual basis with regards to a family history.
Key words:
hereditary breast and ovarian cancer syndrome – BRCA1 gene – BRCA2 gene – breast cancer – pancreatic cancer – prostate cancer – malignant melanoma
The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.
The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers.
Submitted:
14. 8. 2015
Accepted:
6. 10. 2015
Zdroje
1. Plevova P, Novotny J, Petrakova K et al. Syndrom hereditárního karcinomu prsu a ovarií. Klin Onkol 2009; 22 (Suppl): S8–S11.
2. Simon R, Zhang X. On the dynamics of breast tumor development in women carrying germline BRCA1 and BRCA2 mutations. Int J Cancer 2008; 122(8): 1916–1967.
3. Ford D, Easton DF, Stratton M et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1998; 62(3): 676–689.
4. Engel C, Fischer C. Breast cancer risks and risk prediction models. Breast Care (Basel) 2015; 10(1): 7–12. doi: 10.1159/ 000376600.
5. Tun NM, Villani G, Ong K et al. Risk of having BRCA1 mutation in high-risk women with triple-negative breast cancer: a meta-analysis. Clin Genet 2014; 85(1): 43–48. doi: 10.1111/ cge.12270.
6. 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. doi: 10.1093/ jnci/ djt095.
7. Tai YC, Domchek S, Parmigiani G et al. Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 2007; 99(23): 1811–1814.
8. Song H, Cicek MS, Dicks E et al. The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. Hum Mol Genet 2014; 23(17): 4703–4709. doi: 10.1093/ hmg/ ddu172.
9. Alsop K, Fereday S, Meldrum C et al. BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. J Clin Oncol 2012; 30(21): 2654–2663. doi: 10.1200/ JCO.2011.39.8545.
10. Powell CB, Kenley E, Chen LM et al. Risk-reducing salpingo-oophorectomy in BRCA mutation carriers: role of serial sectioning in the detection of occult malignancy. J Clin Oncol 2005; 23(1): 127–132.
11. Shu CA, Pike M, Jotwani AR et al. Risk of developing uterine corpus cancer (Ut Ca) following risk-reduction salpingo-oophorectomy (RrSO) in woman with BRCA mutations. Society of Gynecologic Oncology Annual Meeting 2014; abstr. LBA5.
12. Beiner ME, Finch A, Rosen B et al. The risk of endometrial cancer in women with BRCA1 and BRCA2 mutations. A prospective study. Gynecol Oncol 2007; 104(1): 7–10.
13. Kote-Jarai Z, Leongamornlert D, Saunders E et al. BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients. Br J Cancer 2011; 105(8): 1230–1234. doi: 10.1038/ bjc.2011.383.
14. Edwards SM, Kote-Jarai Z, Meitz J et al. Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene. Am J Hum Genet 2003; 72(1): 1–12.
15. Tryggvadóttir L, Vidarsdóttir L, Thorgeirsson T et al. Prostate cancer progression and survival in BRCA2 mutation carriers. J Natl Cancer Inst 2007; 99(12): 929–935.
16. Consortium TB. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst 1999; 91(15): 1310–1316.
17. Amin Al Olama A, Dadaev T, Hazelett DJ et al. Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans. Hum Mol Genet 2015; 24(19): 5589–5602. doi: 10.1093/ hmg/ ddv203.
18. Goggins M, Schutte M, Lu J et al. Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas. Cancer Res 1996; 56(23): 5360–5364.
19. Thompson D, Easton DF. Cancer Incidence in BRCA1 mutation carriers. J Natl Cancer Inst 2002; 94(18): 1358–1365.
20. Mersch J, Jackson MA, Park M et al. Cancers associated with BRCA1 and BRCA2 mutations other than breast and ovarian. Cancer 2015; 121(14): 269–275.
21. Axilbund JE, Argani P, Kamiyama M et al. Absence of germline BRCA1 mutations in familial pancreatic cancer patients. Cancer Biol Ther 2009; 8(2): 1–5.
22. Brand RE, Lerch Mm, Rubinstein WS et al. Advances in counselling and surveillance of patients at risk for pancreatic cancer. Gut 2007; 56(10): 1460–1469.
23. Maisonneuve P, Lowenfels AB. Risk factors for pancreatic cancer: a summary review of meta-analytical studies. Int J Epidemiol 2015; 44(1): 186–198. doi: 10.1093/ ije/ dyu240.
24. Becker AE, Hernandez YG, Frucht H et al. Pancreatic ductal adenocarcinoma: risk factors, screening, and early detection. World J Gastroenterol 2014; 20(32): 11182–11198. doi: 10.3748/ wjg.v20.i32.11182.
25. Golan T, Kanji ZS, Epelbaum R et al. Overall survival and clinical characteristics of pancreatic cancer in BRCA mutation carriers. Br J Cancer 2014; 111(6): 1132–1138. doi: 10.1038/ bjc.2014.418.
26. Phelan CM, Iqbal J, Lynch HT et al. Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study. Br J Cancer 2014; 110(2): 530–534. doi: 10.1038/ bjc.2013.741.
27. Lowry KP, Lee JM, Kong CY et al. Annual screening strategies in BRCA1 and BRCA2 gene mutation carriers: a comparative effectiveness analysis. Cancer 2012; 118(8): 2021–2030. doi: 10.1002/ cncr.26424.
28. Cott Chubiz JE, Lee JM, Gilmore ME et al. Cost-effectiveness of alternating MRI and digital mammography screening in BRCA1 and BRCA2 gene mutation carriers. Cancer 2013; 119(6): 1266–1276. doi: 10.1002/ cncr.27864.
29. Le-Petross HT, Whitman GJ, Atchley DP et al. Effectiveness of alternating mammographyand magnetic resonance imaging for screening women with deleterious BRCA mutations at high risk of breast cancer. Cancer 2011; 117(17): 3900–3907. doi: 10.1002/ cncr.25971.
30. Bick U. Intensified surveillance for early detection of breast cancer in high-risk patients. Breast Care (Basel) 2015; 10(1): 13–20. doi: 10.1159/ 000375390.
31. Warner E, Messersmith H, Causer P et al. Systematic review: using magnetic resonance imaging to screen women at high risk for breast cancer. Ann Intern Med 2008; 148(9): 671–679.
32. Phi XA, Houssami N, Obdeijn M et al. Magnetic resonance imaging improves breast screening sensitivity in BRCA mutation carriers age ≥ 50 years: evidence from an individual patient data meta-analysis. J Clin Oncol 2015; 33(4): 349–356. doi: 10.1200/ JCO.2014.56.6232.
33. Kauff ND, Domchek SM, Friebel TM et al. Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. J Clin Oncol 2008; 26(8): 1331–1337. doi: 10.1200/ JCO.2007.13.9626.
34. Rebbeck TR, Lynch HT, Neuhausen SL et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 2002; 346(21): 1616–1622.
35. Kim ER, Bae SY, Lee KH et al. Is health screening beneficial for early detection and prognostic improvement in pancreatic cancer? Gut Liver 2011; 5(2): 194–199. doi: 10.5009/ gnl.2011.5.2.194.
36. Gurusamy KS, Kumar S, Davidson BR et al. Resection versus other treatments for locally advanced pancreatic cancer. Cochrane Database Syst Rev 2014; 2: CD010244. doi: 10.1002/ 14651858.CD010244.pub2.
37. Lu C, Xu CF, Wan XY et al. Screening for pancreatic cancer in familial high-risk individuals: a systematic review. World J Gastroenterol 2015; 21(28): 8678–8686. doi: 10.3748/ wjg.v21.i28.8678.
38. Kim JE, Lee KT, Lee JK et al. Clinical usefulness of carbohydrate antigen 19-9 as a screening test for pancreatic cancer in an asymptomatic population. J Gastroenterol Hepatol 2004; 19(2): 182–186.
39. Canto MI, Harinck F, Hruban RH et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut 2013; 62(3): 339–347. doi: 10.1136/ gutjnl-2012-303108.
40. Castro E, Goh C, Olmos D et al. Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer. J Clin Oncol 2013; 31(14): 1748–1757. doi: 10.1200/ JCO.2012.43.1882.
41. Leongamornlert D, Mahmud N, Tymrakiewicz M et al.Germline BRCA1 mutations increase prostate cancer risk. Br J Cancer 2012; 106(10): 1697–1701. doi: 10.1038/ bjc.2012.146.
42. Mitra A, Fisher C, Foster CS et al. Prostate cancer in male BRCA1 and BRCA2 mutation carriers has a more aggressive phenotype. Br J Cancer 2008; 98(2): 502–507. doi: 10.1038/ sj.bjc.6604132.
43. Thorne H, Willems AJ, Niedermayr E et al. Decreased prostate cancer-specific survival of men with BRCA2 mutations from multiple breast cancer families. Cancer Prev Res (Phila) 2011; 4(7): 1002–1010. doi: 10.1158/ 1940-6207.CAPR-10-0397.
44. Moran A, O‘Hara C, Khan S et al. Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations. Fam Cancer 2012; 11(2): 235–242. doi: 10.1007/ s10689-011-9506-2.
45. Hartmann LC, Schaid DJ, Woods JE et al. Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med 1999; 340(2): 77–84.
46. Hartmann LC, Sellers TA, Schaid DJ el al. Efficacy of bilateral prophylactic mastectomy in BRCA 1 and BRCA2 gene station carriers. J Natl Cancer Inst 2001; 93(21): 1633–1637.
47. Meijers-Heijboer H, van Geel B, van Putten WL et al. Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 2001; 345(3): 159–164.
48. Heemskerk-Gerritsen BA, Menke-Pluijmers MB, Jager A et al. Substantial breast cancer risk reduction and potential survival benefit after bilateral mastectomy when compared with surveillance in healthy BRCA1 and BRCA2 mutation carriers: a prospective analysis. Ann Oncol; 24(8): 2029–2035. doi: 10.1093/ annonc/ mdt134.
49. Levine DA, Argenta PA, Yee CJ et al. Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations. J Clin Oncol 2003; 21(22): 4222–4227.
50. Pivers MS, Jishi MF, Tsukada Y et al. Primary peritoenal carcinoma after prophylactic oophorectomy in women with fanmily history of ovarian cancer. A report of the Gilda Radner Familial Ovarian Cancer Registry. Cancer 1993; 71(9): 2751–2755.
51. Rebbeck TR, Lynch HT, Neuhasen SL et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 2002; 346: 1616–1622.
52. Rebbeck TR, Kauff ND, Domchek SM. Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst 2009; 101(2): 80–87. doi: 10.1093/ jnci/ djn442.
53. Eisen A, Lubinski J, Klijn J et al. Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. J Clin Oncol 2005; 23(30): 7491–7496.
54. Rebbeck TR, Lynch HT, Neuhasen SL et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 2002; 346(21): 1616–1622.
55. Kemel Y, Kauff ND, Robson ME et al. Four-year follow-up of outcomes following risk-reducing salpingo-oophorectomy in BRCA station carriers. J Clin Oncol 2005; 23: abstr. 1013.
56. Rebbeck TR, Kauff ND, Domchek SM. Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst 2009; 101(2): 80–87. doi: 10.1093/ jnci/ djn442.
57. Kauff ND, Domchek SM, Friebel TM et al. Risk-reducing salpingo-oophorectomy for the prevention of BRCA1 and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. J Clin Oncol 2008; 26(8): 1331–1337. doi: 10.1200/ JCO.2007.13.9626.
58. Eisen A, Lubinski J, Klijn J et al. Breast cancer risk following bilatreal oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. J Clin Oncol 2005; 23(30): 7491–7496.
59. Eisen A, Lubinski J, Gronwald J et al. Hormone therapy and the risk of breast cancer in BRCA1 mutation carriers. J Natl Cancer Inst 2008; 100(19): 1361–1367. doi: 10.1093/ jnci/ djn313.
60. Metcalfe K, Lynch HT, Ghadirian P et al. Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 2004; 22(12): 2328–2335.
61. Narod SA, Brunet JS, Ghadirian P et al. Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Srudy Group. Lancet 2000; 356(9245): 1876–1881.
62. King MC, Wieand S, Hale K et al. Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP P1) Breast Cancer Prevention Trial. JAMA 2001; 286(18): 2251–2256.
63. Narod SA, Risch H, Moslehi R et al. Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Study Group. N Engl J Med 1998; 339(7): 424–428.
64. Moorman PG, Havrilesky LJ, Gierisch JM et al. Oral contraceptives and risk of ovarian cancer and breast cancer among high-risk women: a systematic review and meta-analysis. J Clin Oncol 2013; 31(33): 4188–4198. doi: 10.1200/ JCO.2013.48.9021.
Štítky
Paediatric clinical oncology Surgery Clinical oncologyČlánok vyšiel v časopise
Clinical Oncology
2016 Číslo Supplementum 1
- Metamizole at a Glance and in Practice – Effective Non-Opioid Analgesic for All Ages
- Metamizole vs. Tramadol in Postoperative Analgesia
- Spasmolytic Effect of Metamizole
- Possibilities of Using Metamizole in the Treatment of Acute Primary Headaches
- Current Insights into the Antispasmodic and Analgesic Effects of Metamizole on the Gastrointestinal Tract
Najčítanejšie v tomto čísle
- PALB2 as Another Candidate Gene for Genetic Testing in Patients with Hereditary Breast Cancer in Czech Republic
- Hepatoblastoma, Etiology, Case Reports
- Genetics of Colorectal Tumorigenesis (Possibilities of Testing and Screening Prediction of Hereditary Form of Colorectal Cancer – Lynch Syndrome)
- Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene – Case Report