Recommended Extension of Indication Criteria for Genetic Testing of BRCA1 and BRCA2 Mutations in Hereditary Breast and Ovarian Cancer Syndrome

Czech version

Authors: L. Foretová ¹; E. Macháčková ¹; M. Palacova ²; M. Navratilova ¹; M. Svoboda ^1,2; K. Petrakova ²
Authors‘ workplace: Oddělení epidemiologie a genetiky nádorů, Masarykův onkologický ústav, Brno ¹; Klinika komplexní onkologické péče, Masarykův onkologický ústav, Brno ²
Published in: Klin Onkol 2016; 29(Supplementum 1): 9-13
Category: Review
doi: https://doi.org/10.14735/amko2016S9

Overview

Genetic testing for hereditary breast and ovarian cancer syndrome is indicated by a genetic counselor on the basis of personal and family history evaluation, with regards to consensual criteria, reflecting the current knowledge. The latest recommendation accepted by Czech Oncology Society and Society of Medical Genetics was published in the supplement 22 to the Journal of Clinical Oncology in 2009. Since the availability of PARP inhibitors for treatment of ovarian cancer in BRCA1/ 2 mutation carriers, an update of these guidelines is urgently needed. Another reason is a higher incidence of other malignancies in high-risk families, such as prostate or pancreatic cancer. The goal is to refine the detection of mutations in selected families, to improve preventive care and collect data necessary for targeted cancer treatment.

Keywords:
hereditary breast and ovarian cancer syndrome – genetic testing – genetic counseling

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:
25. 8. 2015

Accepted:
20. 10. 2015

Sources

1. 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.

2. Wooster R, Bignell G, Lancaster J et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995; 378(6559): 789– 792.

3. Apostolou P, Fostira F. Hereditary breast cancer: the era of new susceptibility genes. Biomed Res Int 2013; 2013: ID747318. doi: 10.1155/ 2013/ 747318.

4. Lalloo F, Evans DG. Familial breast cancer. Clin Genet 2012; 82(2): 105– 114. doi: 10.1111/ j.1399-0004.2012.01859.x.

5. Gracia-Aznares FJ, Fernandez V, Pita G et al. Whole exome sequencing suggests much of non-BRCA1/ BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. PLoS One 2013; 8(2): e55681. doi: 10.1371/ journal.pone.0055681.

6. Kleibl Z, Novotny J, Bezdickova D et al. The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic. Breast Cancer Res Treat 2005; 90(2): 165– 167.

7. Bogdanova N, Helvit S, Dörk T. Hereditary breast cancer: ever more pieces to the polygenic puzzle. Hered Cancer Clin Pract 2013; 11(1): 12. doi: 10.1186/ 1897-4287-11-12.

8. Balmaňa J, Diez O, Rubio IT et al. BRCA in breast cancer: ESMO Clinical Practice Guidelines. Ann Oncol 2011; 22 (Suppl 6): vi31– vi34. doi: 10.1093/ annonc/ mdr373.

9. Matějů M, Stribrna J, Zikan M et al. Population-based study of BRCA1/ 2 mutations: family history based criteria identify minority of mutation carriers. Neoplasma 2010; 57(3): 280– 285.

10. Evans DG, Shenton A, Woodward E et al. Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical cancer genetics service setting: risks of breast/ ovarian cancer quoted should reflect the cancer burden in the family. BMC Cancer 2008; 8: 155. doi: 10.1186/ 1471-2407-8-155.

11. Ford D, Easton DF, Stratton M et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet 1998; 62(3): 676– 689.

12. Thompson D, Easton DF. Breast Cancer Linkage Consortium. Cancer incidence in BRCA1 mutation carriers. J Nat Cancer Inst 2002; 94(18): 1358– 1365.

13. Brose MS, Rebbeck TR, Calzone KA et al. Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. J Natl Cancer Inst 2002; 94(18): 1365– 1372.

14. 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. J Hum Genet 2003; 72(5): 1117– 1130.

15. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 Penetrance. J Clin Oncol 2007; 25(11): 1329– 1333.

16. Finch A, Evans G, Narod SA. BRCA carriers, prophylactic salpingo-oophorectomy and menopause: clinical management considerations and recommendations. Womens Health 2012; 8(5): 543– 555. doi: 10.2217/ whe.12.41.

17. Liu Y, West SC. Distinct functions of BRCA1 and BRCA2 in double-strand break repair. Breast Cancer Res 2002; 4(1): 9– 13.

18. Yoshida K, Miki Y. Role of BRCA1 and BRCA2 as regulators of DNA repair, transcription, and cell cycle in response to DNA damage. Cancer Sci 2004; 95(11): 866– 871.

19. Machackova E, Foretova L, Lukesova M et al. Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/ or ovarian cancer. BMC Cancer 2008; 8: 140. doi: 10.1186/ 1471-2407-8-140.

20. Claes K, Poppe B, Machackova E et al. Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2. Genes Chromosomes Cancer 2003; 37(3): 314– 320.

21. Easton DF, Deffenbaugh AM, Pruss D et al. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer susceptibility genes. Am J Hum Genet 2007; 81(5): 873– 883.

22. Lindor NM, Guidugli L, Wang X et al. A review of a multifactorial probability based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). Hum Mutat 2012; 33(1): 8– 21. doi: 10.1002/ humu.21627.

23. Plon SE, Eccles DM, Easton D et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 2008; 29(11): 1282– 1291. doi: 10.1002/ humu.20880.

24. Ledermann J, Harter P, Gourley C et al. 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 2014; 15(8): 852– 861. doi: 10.1016/ S1470-2045(14)70228-1.

25. Ledermann J, Harter P, Gourley C et al. Olaparib maintenance therapy in platinum-sensitive relapsed ovarian cancer. N Eng J Med 2012; 366(15): 1382– 1392. doi: 10.1056/ NEJMoa1105535.

26. Reinbolt RE, Hays JL. The role of PARP inhibitors in the treatment of gynecologic malignancies. Front Oncol 2013; 3: 237. doi: 10.3389/ fonc.2013.00237.

27. Telli ML, Ford J. PARP Inhibitors in breast cancer. Clin Adv Hematol Oncol 2010; 8(9): 629– 635.

28. Plevová P, Novotný J, Petráková K et al. Syndrom hereditárního karcinomu prsu a ovarií. Klin Onkol 2009; 22 (Suppl): S8– S11.

29. Newman B, Mu H, Butler LM et al. Frequency of breast cancer attributable to BRCA1 in a population based series of American women. JAMA 1998; 279(12): 915– 921.

30. Minion LE, Dolinsky JS, Chase DM et al. Hereditary predisposition to ovarian cancer, looking beyond BRCA1/ BRCA2. Gynecologic Oncology 2015; 137(1): 86– 92. doi: 10.1016/ j.ygyno.2015.01.537.

31. Song H, Cicek MS, Ficka 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.

32. Walsh T, Casadei S, Lee MK et al. Mutation in 12 genes for inherited ovarian, fallopian tube and peritoneal carcinoma indentified by massively paralel sequencing. Proc Natl Acad Sci U S A 2011; 108(44): 18032– 18037. doi: 10.1073/ pnas.1115052108.

33. NCCN Guidelines Version 2.2015 [online]. Hereditary breast and/ or ovarian cancer syndrome. National Comprehensive Cancer Network. Available from: http:/ / www.nccn.org/ professionals/ physician_gls/ f_guidelines.asp.

34. Smith A, Moran A, Boyd MC et al. Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening. J Med Genet 2007; 44(1): 10– 15.

35. Fischer C, Engel C, Sutter C et al. BRCA1/ 2 testing: uptake, phenocopies and strategies to improve detection rates in initially negative families. Clin Genet 2012; 82(5): 478– 483. doi: 10.1111/ j.1399-0004.2011.01788.x.

36. Pohlreich P, Kleibl Z, Kleiblová P. Klinický význam analýz genů středního rizika pro hodnocení vzniku karcinomu prsu a dalších nádorů v České republice. Klin onkol 2012; 25 (Suppl): S59– S66. doi: 10.14735/ amko2012S59.

37. Vasickova P, Machackova E, Lukesova M et al. High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic. BMC Med Genet 2007; 8: 32.