PGD for hereditary breast and ovarian cancer: The route to universal tests for BRCA1 and BRCA2 mutation carriers

European Journal of Human Genetics

Volumn 21, Issue 12, 2013, Pages 1361-1368

  Drüsedau, Marion ^a   Dreesen, Jos C ^a,b   Derks Smeets, Inge ^a,b   Coonen, Edith ^a   Van Golde, Ron ^a,b   Van Echten Arends, Jannie ^c   Kastrop, Peter M M ^d   Blok, Marinus J ^a,b   Gómez García, Encarna ^a,b   Geraedts, Joep P ^a,b   Smeets, Hubert J ^a,b   De Die Smulders, Christine E ^a,b   Paulussen, Aimée D ^a,b  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

BRCA1; BRCA2; HBOC; microsatellites; mutation; PGD

Indexed keywords

ADULT; ARTICLE; BRCA2 GENE; BREAST CANCER; CLINICAL ARTICLE; DIAGNOSTIC PROCEDURE; EMBRYO; EMBRYO TRANSFER; FEMALE; FERTILIZATION IN VITRO; GENE MUTATION; HAPLOTYPE; HEART BEAT; HETEROZYGOTE; HUMAN; MALE; MICROSATELLITE MARKER; MULTIPLEX POLYMERASE CHAIN REACTION; OOCYTE RETRIEVAL; OVARY CANCER; PREGNANCY; PREIMPLANTATION GENETIC DIAGNOSIS; PRIORITY JOURNAL; QUALITY CONTROL; TUMOR SUPPRESSOR GENE;

ADULT; BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; FEMALE; HUMANS; MALE; MICROSATELLITE REPEATS; MUTATION; OVARIAN NEOPLASMS; PEDIGREE; PREGNANCY; PREIMPLANTATION DIAGNOSIS; PRENATAL DIAGNOSIS;

EID: 84887626602     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.50     Document Type: Article

References (25)

1. Devilee P, Tollenaar RA, Cornelisse CJ: [From gene to disease; from BRCA1 or BRCA2 to breast cancer]. Ned Tijdschr Geneeskd 2000; 144: 2549-2551.
2. Tutt A, Ashworth A: The relationship between the roles of BRCA genes in DNA repair and cancer predisposition. Trends Mol Med 2002; 8: 571-576.
3. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE: Risks of cancer in BRCA1- mutation carriers. Breast Cancer Linkage Consortium. Lancet 1994; 343: 692-695.
4. Wooster R, Bignell G, Lancaster J et al: Identification of the breast cancer susceptibility gene BRCA2. Nature 1995; 378: 789-792.
5. Abeliovich D, Kaduri L, Lerer I et al: The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of earlyonset breast cancer patients among Ashkenazi women. Am J Human Genet 1997; 60: 505-514.
6. Borg A, Dorum A, Heimdal K, Maehle L, Hovig E, Moller P: BRCA1 1675delA and 1135insA account for one third of Norwegian familial breast-ovarian cancer and are associated with later disease onset than less frequent mutations. Dis Markers 1999; 15: 79-84.
7. Gorski B, Jakubowska A, Huzarski T et al: A high proportion of founder BRCA1 mutations in Polish breast cancer families. IntJ Cancer 2004; 110: 683-686.
8. Khoo US, Chan KY, Cheung AN et al: Recurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: a founder mutation of BRCA1 identified in the Chinese population. HumanMmutat 2002; 19: 307-308.
9. Verhoog LC, van den Ouweland AM, Berns E et al: Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families. Eur J Cancer 2001; 37: 2082-2090.
10. de Die-Smulders CE, Land JA, Dreesen JC, Coonen E, Evers JL, Geraedts JP: [Results from 10 years of preimplantation-genetic diagnostics in The Netherlands]. Ned Tijdschr Geneeskd 2004; 148: 2491-2496.
11. Menon U, Harper J, Sharma A et al: Views of BRCA gene mutation carriers on preimplantation genetic diagnosis as a reproductive option for hereditary breast and ovarian cancer. Hum Reprod 2007; 22: 1573-1577.
12. Sagi M, Weinberg N, Eilat A et al: Preimplantation genetic diagnosis for BRCA1/2-a novel clinical experience. Prenat Diagn 2009; 29: 508-513.
13. Spits C, De Rycke M, Van Ranst N et al: Preimplantation genetic diagnosis for cancer predisposition syndromes. Prenat Diagn 2007; 27: 447-456.
14. Kotsopoulos J, Librach CL, Lubinski J et al: Infertility, treatment of infertility, and the risk of breast cancer among women with BRCA1 and BRCA2 mutations: a case-control study. Cancer Causes Control 2008; 19: 1111-1119.
15. Moutou C, Gardes N, Nicod JC, Viville S: Strategies and outcomes of PGD of familial adenomatous polyposis. Mol Hum Reprod 2007; 13: 95-101.
16. Harton GL, De Rycke M, Fiorentino F et al: ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod 2011; 26: 33-40.
17. Dumoulin JC, Land JA, Van Montfoort AP et al: Effect of in vitro culture of human embryos on birthweight of newborns. Hum Reprod 2010; 25: 605-612.
18. Van Steirteghem AC, Nagy Z, Joris H et al: High fertilization and implantation rates after intracytoplasmic sperm injection. Hum Reprod 1993; 8: 1061-1066.
19. Dumoulin JC, Coonen E, Bras M et al: Comparison of in-vitro development of embryos originating from either conventional in-vitro fertilization or intracytoplasmic sperm injection. Hum Reprod 2000; 15: 402-409.
20. Thornhill AR, deDie-Smulders CE, Geraedts JP et al: ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'. Hum Reprod 2005; 20: 35-48.
21. Handyside AH: Preimplantation genetic diagnosis after 20 years. Reprod Biomed Online 2010; 21: 280-282.
22. Robertson JA: Extending preimplantation genetic diagnosis: the ethical debate. Ethical issues in new uses of preimplantation genetic diagnosis. Hum Reprod 2003; 18: 465-471.
23. Jasper MJ, Liebelt J, Hussey ND: Preimplantation genetic diagnosis for BRCA1 exon 13 duplication mutation using linked polymorphic markers resulting in a live birth. Prenat Diagn 2008; 28: 292-298.
24. Ramon YCT, Polo A, Martinez O et al: Preimplantation genetic diagnosis for inherited breast cancer: first clinical application and live birth in Spain. Familial Cancer 2012; 11: 175-179.
25. Renwick PJ, Trussler J, Ostad-Saffari E et al: Proof of principle and first cases using preimplantation genetic haplotyping-a paradigm shift for embryo diagnosis. Reprod Biomed Online 2006; 13: 110-119.