A Proposed Model to Establish the PGD Technique for Carriers of BRCA1/2 Gene Mutations in a Diagnostic Laboratory
-
Elmira Ebrahimi
,
Reza Shirkoohi
,
Maryam Abiri
,
Solmaz Sabeghi
,
Kiyana Sadat Fatemi
,
Samira Dabagh Bagheri
,
Sirous Zeinali
,
Saeid Amanpour
Abstract
Background: Pre-implantation Genetic Diagnosis (PGD) has recently been introduced as a reproductive choice for individuals who carry a disease-causing BRCA1/2 mutation. Since this technology has not yet been launched for patients at the Cancer Institute of Imam Khomeini Hospital harboring gene mutations that predispose patients to breast cancer, this study aimed to introduce a PGD-based model using a single cell lymphocyte instead of an embryonic blastomere. Methods: Two affected and unrelated women with a known mutation in BRCA1/2 were enrolled in this study. Each patient (together with her siblings) was considered as an embryo derived from a hypothetical couple. Blood samples were collected from these individuals as well as their parents. Linkage analysis was performed. Following this process, a mutation-free individual and a mutation carrier was selected from the first and second family, respectively. A single lymphocyte was then extracted from their freshly taken peripheral blood, and afterwards Nested Multiplex PCR was performed. Results: PGD confirmed that the individual from the first family is free of a mutation and the second one is a pathogenic mutation carrier. Conclusions: Our results suggested that PGD is a viable choice to offer to families with "Hereditary Breast Cancer Syndrome", who have been diagnosed with a known pathogenic mutation. Our introduced model can be used as a possible option by other laboratories that are planning to launch this technology.
1. Paluch-Shimon S, Cardoso F, Sessa C, Balmana J, Cardoso M, Gilbert F, et al. Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO Clinical Practice Guidelines for cancer prevention and screening. Annals of Oncology. 2016;27(suppl 5):v103-v10.
2. Davies AA, Masson J-Y, McIlwraith MJ, Stasiak AZ, Stasiak A, Venkitaraman AR, et al. Role of BRCA2 in control of the RAD51 recombination and DNA repair protein. Molecular cell. 2001;7(2):273-82.
3. Easton DF. How many more breast cancer predisposition genes are there? Breast Cancer Research. 1999;1(1):1.
4. Campeau PM, Foulkes WD, Tischkowitz MD. Hereditary breast cancer: new genetic developments, new therapeutic avenues. Human genetics. 2008;124(1):31-42.
5. Pal T, Permuth‐Wey J, Betts JA, Krischer JP, Fiorica J, Arango H, et al. BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer. 2005;104(12):2807-16.
6. Antoniou A, Pharoah P, Narod S, Risch HA, Eyfjord JE, Hopper J, 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. The American Journal of Human Genetics. 2003;72(5):1117-30.
7. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. Journal of clinical oncology. 2007;25(11):1329-33.
8. Roy R, Chun J, Powell SN. BRCA1 and BRCA2: different roles in a common pathway of genome protection. Nature Reviews Cancer. 2012;12(1):68-78.
9. Derks-Smeets I, Gietel-Habets J, Tibben A, Tjan-Heijnen V, Meijer-Hoogeveen M, Geraedts J, et al. Decision-making on preimplantation genetic diagnosis and prenatal diagnosis: a challenge for couples with hereditary breast and ovarian cancer. Human Reproduction. 2014:deu034.
10. Derks-Smeets IA, de Die-Smulders CE, Mackens S, van Golde R, Paulussen AD, Dreesen J, et al. Hereditary breast and ovarian cancer and reproduction: an observational study on the suitability of preimplantation genetic diagnosis for both asymptomatic carriers and breast cancer survivors. Breast cancer research and treatment. 2014;145(3):673-81.
11. Pruthi S, Gostout BS, Lindor NM, editors. Identification and management of women with BRCA mutations or hereditary predisposition for breast and ovarian cancer. Mayo Clinic Proceedings; 2010: Elsevier.
12. Werner-Lin A, Rubin LR, Doyle M, Stern R, Savin K, Hurley K, et al. “My funky genetics”: BRCA1/2 mutation carriers' understanding of genetic inheritance and reproductive merger in the context of new reprogenetic technologies. Families, Systems, & Health. 2012;30(2):166.
13. Mohagheghi AM-J, Amanpour S. Systematic review of available guidelines on fertility preservation of young patients with breast cancer. Asian Pacific Journal of Cancer Prevention. 2015;16(3):1057-62.
14. Van der Aa N, Esteki MZ, Vermeesch JR, Voet T. Preimplantation genetic diagnosis guided by single-cell genomics. Genome medicine. 2013;5(8):1.
15. Sermon K, Van Steirteghem A, Liebaers I. Preimplantation genetic diagnosis. The Lancet. 2004;363(9421):1633-41.
16. Karimi AY, Davoudi-Dehaghani E, Rabbani MA, Fouladi P, Ebrahimi E, Sabeghi S, et al. The first successful application of preimplantation genetic diagnosis for hearing loss in Iran. Cellular and molecular biology (Noisy-le-Grand, France). 2018;64(9):1718-.
17. Geraedts J, De Wert G. Preimplantation genetic diagnosis. Clinical genetics. 2009;76(4):315-25.
18. Chang L-J, Huang C-C, Tsai Y-Y, Hung C-C, Fang M-Y, Lin Y-C, et al. Blastocyst biopsy and vitrification are effective for preimplantation genetic diagnosis of monogenic diseases. Human Reproduction. 2013:det048.
19. McCarthy A. Preimplantation genetic diagnosis. BMJ. 2001;322:1008-9.
20. Sagi M, Weinberg N, Eilat A, Aizenman E, Werner M, Girsh E, et al. Preimplantation genetic diagnosis for BRCA1/2—a novel clinical experience. Prenatal diagnosis. 2009;29(5):508-13.
21. Jasper MJ, Liebelt J, Hussey ND. Preimplantation genetic diagnosis for BRCA1 exon 13 duplication mutation using linked polymorphic markers resulting in a live birth. Prenatal diagnosis. 2008;28(4):292-8.
22. Spits C, De Rycke M, Van Ranst N, Verpoest W, Lissens W, Van Steirteghem A, et al. Preimplantation genetic diagnosis for cancer predisposition syndromes. Prenatal diagnosis. 2007;27(5):447-56.
23. Offit K, Kohut K, Clagett B, Wadsworth EA, Lafaro KJ, Cummings S, et al. Cancer genetic testing and assisted reproduction. Journal of Clinical Oncology. 2006;24(29):4775-82.
24. Miller S, Dykes D, Polesky H. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic acids research. 1988;16(3):1215.
25. Schover LR, Rybicki LA, Martin BA, Bringelsen KA. Having children after cancer. Cancer. 1999;86(4):697-709.
26. Fragouli E. Preimplantation genetic diagnosis: present and future. Journal of assisted reproduction and genetics. 2007;24(6):201-7.
27. Garcia-Herrero S, Cervero A, Mateu E, Mir P, Póo M, Rodrigo L, et al. Genetic Analysis of Human Preimplantation Embryos. Current Topics in Developmental Biology. 2016.
28. Rahimi AA, Shahhosseiny MH, Ahangari G, Izadi Mobarakeh J. Prenatal sex determination in suspicious cases of X-linked recessive diseases by the amelogenin gene. Iranian Journal of Basic Medical Sciences. 2014;17(2):134-7.
29. Ben‐Nagi J, Serhal P, SenGupta S, Doye K, Wells D. Preimplantation genetic diagnosis: an overview and recent advances. The Obstetrician & Gynaecologist. 2016;18(2):99-106.
30. Ao A, Wells D, Handyside AH, Winston RM, Delhanty JD. Preimplantation genetic diagnosis of inherited cancer: familial adenomatous polyposis coli. Journal of assisted reproduction and genetics. 1998;15(3):140-4.
31. Verlinsky Y, Rechitsky S, Verlinsky O, Xu K, Schattman G, Masciangelo C, et al. Preimplantation diagnosis for p53 tumour suppressor gene mutations. Reproductive biomedicine online. 2001;2(2):102-5.
32. Verlinsky Y, Rechitsky S, Schoolcraft W, Strom C, Kuliev A. Preimplantation diagnosis for Fanconi anemia combined with HLA matching. Jama. 2001;285(24):3130-3.
33. Rechitsky S, Verlinsky O, Chistokhina A, Sharapova T, Ozen S, Masciangelo C, et al. Preimplantation genetic diagnosis for cancer predisposition. Reproductive biomedicine online. 2002;5(2):148-55.
34. Girardet A, Hamamah S, Anahory T, Dechaud H, Sarda P, Hedon B, et al. First preimplantation genetic diagnosis of hereditary retinoblastoma using informative microsatellite markers. Molecular human reproduction. 2003;9(2):111-6.
35. Xu K, Rosenwaks Z, Beaverson K, Cholst I, Veeck L, Abramson DH. Preimplantation genetic diagnosis for retinoblastoma: the first reported liveborn. American journal of ophthalmology. 2004;137(1):18-23.
36. Abou‐Sleiman P, Apessos A, Harper J, Serhal P, Winston R, Delhanty J. First application of preimplantation genetic diagnosis to neurofibromatosis type 2 (NF2). Prenatal diagnosis. 2002;22(6):519-24.
37. Spits C, De Rycke M, Van Ranst N, Joris H, Verpoest W, Lissens W, et al. Preimplantation genetic diagnosis for neurofibromatosis type 1. Molecular human reproduction. 2005;11(5):381-7.
38. Daum H, Peretz T, Laufer N. BRCA mutations and reproduction. Fertility and Sterility.109(1):33-8.
39. Drüsedau M, Dreesen JC, Derks-Smeets I, Coonen E, van Golde R, van Echten-Arends J, et al. PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers. European Journal of Human Genetics. 2013;21(12):1361-8.
40. Sermon K, Viville S. Textbook of Human Reproductive Genetics: Cambridge University Press; 2014.
41. Quinn GP, Vadaparampil ST, Tollin S, Miree CA, Murphy D, Bower B, et al. BRCA carriers' thoughts on risk management in relation to preimplantation genetic diagnosis and childbearing: when too many choices are just as difficult as none. Fertility and sterility. 2010;94(6):2473-5.
42. Hall M, Obeid E, Schwartz S, Mantia-Smaldone G, Forman A, Daly M. Genetic testing for hereditary cancer predisposition: BRCA1/2, Lynch syndrome, and beyond. Gynecologic oncology. 2016;140(3):565-74.
43. Breastcancer.org. Preimplantation Genetic Diagnosis for BRCA Mutation Carriers 2016 [Available from: https://www.breastcancer.org/symptoms/testing/genetic/preimplantation-genetic-diag.
44. van Hoogenhuijze NE, Torrance HL, Mol F, Laven JSE, Scheenjes E, Traas MAF, et al. Endometrial scratching in women with implantation failure after a first IVF/ICSI cycle; does it lead to a higher live birth rate? The SCRaTCH study: a randomized controlled trial (NTR 5342). BMC Women's Health. 2017;17(1):47.
45. Wu P, Whiteford ML, Cameron AD. Preimplantation genetic diagnosis. Obstetrics, Gynaecology & Reproductive Medicine. 2014;24(3):67-73.
2. Davies AA, Masson J-Y, McIlwraith MJ, Stasiak AZ, Stasiak A, Venkitaraman AR, et al. Role of BRCA2 in control of the RAD51 recombination and DNA repair protein. Molecular cell. 2001;7(2):273-82.
3. Easton DF. How many more breast cancer predisposition genes are there? Breast Cancer Research. 1999;1(1):1.
4. Campeau PM, Foulkes WD, Tischkowitz MD. Hereditary breast cancer: new genetic developments, new therapeutic avenues. Human genetics. 2008;124(1):31-42.
5. Pal T, Permuth‐Wey J, Betts JA, Krischer JP, Fiorica J, Arango H, et al. BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer. 2005;104(12):2807-16.
6. Antoniou A, Pharoah P, Narod S, Risch HA, Eyfjord JE, Hopper J, 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. The American Journal of Human Genetics. 2003;72(5):1117-30.
7. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. Journal of clinical oncology. 2007;25(11):1329-33.
8. Roy R, Chun J, Powell SN. BRCA1 and BRCA2: different roles in a common pathway of genome protection. Nature Reviews Cancer. 2012;12(1):68-78.
9. Derks-Smeets I, Gietel-Habets J, Tibben A, Tjan-Heijnen V, Meijer-Hoogeveen M, Geraedts J, et al. Decision-making on preimplantation genetic diagnosis and prenatal diagnosis: a challenge for couples with hereditary breast and ovarian cancer. Human Reproduction. 2014:deu034.
10. Derks-Smeets IA, de Die-Smulders CE, Mackens S, van Golde R, Paulussen AD, Dreesen J, et al. Hereditary breast and ovarian cancer and reproduction: an observational study on the suitability of preimplantation genetic diagnosis for both asymptomatic carriers and breast cancer survivors. Breast cancer research and treatment. 2014;145(3):673-81.
11. Pruthi S, Gostout BS, Lindor NM, editors. Identification and management of women with BRCA mutations or hereditary predisposition for breast and ovarian cancer. Mayo Clinic Proceedings; 2010: Elsevier.
12. Werner-Lin A, Rubin LR, Doyle M, Stern R, Savin K, Hurley K, et al. “My funky genetics”: BRCA1/2 mutation carriers' understanding of genetic inheritance and reproductive merger in the context of new reprogenetic technologies. Families, Systems, & Health. 2012;30(2):166.
13. Mohagheghi AM-J, Amanpour S. Systematic review of available guidelines on fertility preservation of young patients with breast cancer. Asian Pacific Journal of Cancer Prevention. 2015;16(3):1057-62.
14. Van der Aa N, Esteki MZ, Vermeesch JR, Voet T. Preimplantation genetic diagnosis guided by single-cell genomics. Genome medicine. 2013;5(8):1.
15. Sermon K, Van Steirteghem A, Liebaers I. Preimplantation genetic diagnosis. The Lancet. 2004;363(9421):1633-41.
16. Karimi AY, Davoudi-Dehaghani E, Rabbani MA, Fouladi P, Ebrahimi E, Sabeghi S, et al. The first successful application of preimplantation genetic diagnosis for hearing loss in Iran. Cellular and molecular biology (Noisy-le-Grand, France). 2018;64(9):1718-.
17. Geraedts J, De Wert G. Preimplantation genetic diagnosis. Clinical genetics. 2009;76(4):315-25.
18. Chang L-J, Huang C-C, Tsai Y-Y, Hung C-C, Fang M-Y, Lin Y-C, et al. Blastocyst biopsy and vitrification are effective for preimplantation genetic diagnosis of monogenic diseases. Human Reproduction. 2013:det048.
19. McCarthy A. Preimplantation genetic diagnosis. BMJ. 2001;322:1008-9.
20. Sagi M, Weinberg N, Eilat A, Aizenman E, Werner M, Girsh E, et al. Preimplantation genetic diagnosis for BRCA1/2—a novel clinical experience. Prenatal diagnosis. 2009;29(5):508-13.
21. Jasper MJ, Liebelt J, Hussey ND. Preimplantation genetic diagnosis for BRCA1 exon 13 duplication mutation using linked polymorphic markers resulting in a live birth. Prenatal diagnosis. 2008;28(4):292-8.
22. Spits C, De Rycke M, Van Ranst N, Verpoest W, Lissens W, Van Steirteghem A, et al. Preimplantation genetic diagnosis for cancer predisposition syndromes. Prenatal diagnosis. 2007;27(5):447-56.
23. Offit K, Kohut K, Clagett B, Wadsworth EA, Lafaro KJ, Cummings S, et al. Cancer genetic testing and assisted reproduction. Journal of Clinical Oncology. 2006;24(29):4775-82.
24. Miller S, Dykes D, Polesky H. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic acids research. 1988;16(3):1215.
25. Schover LR, Rybicki LA, Martin BA, Bringelsen KA. Having children after cancer. Cancer. 1999;86(4):697-709.
26. Fragouli E. Preimplantation genetic diagnosis: present and future. Journal of assisted reproduction and genetics. 2007;24(6):201-7.
27. Garcia-Herrero S, Cervero A, Mateu E, Mir P, Póo M, Rodrigo L, et al. Genetic Analysis of Human Preimplantation Embryos. Current Topics in Developmental Biology. 2016.
28. Rahimi AA, Shahhosseiny MH, Ahangari G, Izadi Mobarakeh J. Prenatal sex determination in suspicious cases of X-linked recessive diseases by the amelogenin gene. Iranian Journal of Basic Medical Sciences. 2014;17(2):134-7.
29. Ben‐Nagi J, Serhal P, SenGupta S, Doye K, Wells D. Preimplantation genetic diagnosis: an overview and recent advances. The Obstetrician & Gynaecologist. 2016;18(2):99-106.
30. Ao A, Wells D, Handyside AH, Winston RM, Delhanty JD. Preimplantation genetic diagnosis of inherited cancer: familial adenomatous polyposis coli. Journal of assisted reproduction and genetics. 1998;15(3):140-4.
31. Verlinsky Y, Rechitsky S, Verlinsky O, Xu K, Schattman G, Masciangelo C, et al. Preimplantation diagnosis for p53 tumour suppressor gene mutations. Reproductive biomedicine online. 2001;2(2):102-5.
32. Verlinsky Y, Rechitsky S, Schoolcraft W, Strom C, Kuliev A. Preimplantation diagnosis for Fanconi anemia combined with HLA matching. Jama. 2001;285(24):3130-3.
33. Rechitsky S, Verlinsky O, Chistokhina A, Sharapova T, Ozen S, Masciangelo C, et al. Preimplantation genetic diagnosis for cancer predisposition. Reproductive biomedicine online. 2002;5(2):148-55.
34. Girardet A, Hamamah S, Anahory T, Dechaud H, Sarda P, Hedon B, et al. First preimplantation genetic diagnosis of hereditary retinoblastoma using informative microsatellite markers. Molecular human reproduction. 2003;9(2):111-6.
35. Xu K, Rosenwaks Z, Beaverson K, Cholst I, Veeck L, Abramson DH. Preimplantation genetic diagnosis for retinoblastoma: the first reported liveborn. American journal of ophthalmology. 2004;137(1):18-23.
36. Abou‐Sleiman P, Apessos A, Harper J, Serhal P, Winston R, Delhanty J. First application of preimplantation genetic diagnosis to neurofibromatosis type 2 (NF2). Prenatal diagnosis. 2002;22(6):519-24.
37. Spits C, De Rycke M, Van Ranst N, Joris H, Verpoest W, Lissens W, et al. Preimplantation genetic diagnosis for neurofibromatosis type 1. Molecular human reproduction. 2005;11(5):381-7.
38. Daum H, Peretz T, Laufer N. BRCA mutations and reproduction. Fertility and Sterility.109(1):33-8.
39. Drüsedau M, Dreesen JC, Derks-Smeets I, Coonen E, van Golde R, van Echten-Arends J, et al. PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers. European Journal of Human Genetics. 2013;21(12):1361-8.
40. Sermon K, Viville S. Textbook of Human Reproductive Genetics: Cambridge University Press; 2014.
41. Quinn GP, Vadaparampil ST, Tollin S, Miree CA, Murphy D, Bower B, et al. BRCA carriers' thoughts on risk management in relation to preimplantation genetic diagnosis and childbearing: when too many choices are just as difficult as none. Fertility and sterility. 2010;94(6):2473-5.
42. Hall M, Obeid E, Schwartz S, Mantia-Smaldone G, Forman A, Daly M. Genetic testing for hereditary cancer predisposition: BRCA1/2, Lynch syndrome, and beyond. Gynecologic oncology. 2016;140(3):565-74.
43. Breastcancer.org. Preimplantation Genetic Diagnosis for BRCA Mutation Carriers 2016 [Available from: https://www.breastcancer.org/symptoms/testing/genetic/preimplantation-genetic-diag.
44. van Hoogenhuijze NE, Torrance HL, Mol F, Laven JSE, Scheenjes E, Traas MAF, et al. Endometrial scratching in women with implantation failure after a first IVF/ICSI cycle; does it lead to a higher live birth rate? The SCRaTCH study: a randomized controlled trial (NTR 5342). BMC Women's Health. 2017;17(1):47.
45. Wu P, Whiteford ML, Cameron AD. Preimplantation genetic diagnosis. Obstetrics, Gynaecology & Reproductive Medicine. 2014;24(3):67-73.
| Files | ||
| Issue | Vol 11 No 1 (2019) | |
| Section | Original Articles | |
| DOI | https://doi.org/10.18502/bccr.v11i1.1647 | |
| Keywords | ||
| Hereditary Breast Cancer Syndrome BRCA1/2 Pre-implantation Genetic Diagnosis | ||
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How to Cite
1.
Ebrahimi E, Shirkoohi R, Abiri M, Sabeghi S, Fatemi KS, Dabagh Bagheri S, Zeinali S, Amanpour S. A Proposed Model to Establish the PGD Technique for Carriers of BRCA1/2 Gene Mutations in a Diagnostic Laboratory. Basic Clin Cancer Res. 2019;11(1):16-26.
