Preimplantation genetic diagnosis for BRCA1 exon 13 duplication mutation using linked polymorphic markers resulting in a live birth

Jasper, Melinda J.; Liebelt, Jan; Hussey, N

doi:10.1002/pd.1925

Cited by 39 publications

(22 citation statements)

References 29 publications

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“…Given recent evidence to suggest that women are actively seeking PGD for BRCA, it becomes even more important to better understand these issues. [15][16][17] Thus, these findings may give some insight for providers about the baseline knowledge/ attitudes among high-risk women related to PGD that may inform both counseling and educational strategies.…”

Section: Discussionmentioning

confidence: 99%

“…6,17 The first case report of an Australian baby born after PGD for a BRCA1 mutation was published in 2008. 15 In a following report of a case series of 10 women seeking consultation about PGD for a BRCA mutations in Israel, five underwent the procedure, which resulted in three pregnancies with three live births (a set of twins and a singleton; the third pregnancy was ongoing). 16 Few studies have been conducted to assess high-risk women's interest in PGD.…”

mentioning

confidence: 99%

“…A viable alternative to these tests is preimplantation genetic diagnosis (PGD), a procedure used to test fertilized eggs for genetic disorders before uterine implantation, 6,9,[13][14][15] thereby avoiding the potential dangers associated with amniocentesis and CVS and the decision to terminate a pregnancy. 16 PGD involves the use of in vitro fertilization (IVF) in which eggs are fertilized and the embryos develop for 3 days until it reaches the eight-cell stage; then, one cell from each embryo is removed and examined using polymerase chain reaction or fluorescence in situ hybridization.…”

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confidence: 99%

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Factors associated with preimplantation genetic diagnosis acceptance among women concerned about hereditary breast and ovarian cancer

Vadaparampil

Quinn

Knapp

et al. 2009

Genetics in Medicine

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Purpose: To assess sociodemographic, clinical, awareness, and attitudinal factors associated with acceptance of preimplantation genetic diagnosis among women concerned about hereditary breast and ovarian cancer. Methods: Participants (n ϭ 962) were members of a national advocacy organization dedicated to empowering women at high risk for developing breast or ovarian cancer. Participants completed a webbased survey assessing factors associated with preimplantation genetic diagnosis acceptance. Factors significantly associated with acceptance in the bivariate analyses were used to build a logistic regression model. Results: Among the 962 respondents, 318 (33.1%) selected the option that they would consider preimplantation genetic diagnosis, 367 (38.2%) would not consider preimplantation genetic diagnosis, and 277 (28.8%) selected "don't know." Significant predictors of preimplantation genetic diagnosis acceptance were the desire to have more children, having had a prenatal genetic test, preimplantation genetic diagnosis awareness, belief that preimplantation genetic diagnosis is acceptable for individuals at risk for hereditary breast and ovarian cancer, belief that preimplantation genetic diagnosis information should be given to individuals at risk for hereditary breast and ovarian cancer, concerns about preimplantation genetic diagnosis, perceived benefits of preimplantation genetic diagnosis, and how preimplantation genetic diagnosis is considered. Conclusion: Women at increased risk for hereditary cancer may consider preimplantation genetic diagnosis as part of their reproductive decision making. Therefore, it is important to understand existing levels of awareness and attitudes toward this technology to provide optimal counseling and support. Genet Med 2009:11(10):757-765.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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confidence: 99%

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Factors associated with preimplantation genetic diagnosis acceptance among women concerned about hereditary breast and ovarian cancer

Vadaparampil

Quinn

Knapp

et al. 2009

Genetics in Medicine

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show abstract

“…These markers are both intragenic, making the protocol suitable only if both markers are informative and the mutation itself is located between the two intragenic markers. Jasper et al 23 have included one specific mutation in BRCA1 combined with two proximal markers but used two rounds of PCR. Sagi et al 12 have described one BRCA1 and two BRCA2 founder-mutation-specific protocols, including three or four markers flanking the BRCA loci, applied to 10 PGD couples from Israel, and finally Ramon et al 24 have described one mutation-specific BRCA1 protocol with two markers.…”

Section: Clinical Cyclesmentioning

confidence: 99%

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

et al. 2013

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Preimplantation Genetic Diagnosis (PGD) is a method of testing in vitro embryos as an alternative to prenatal diagnosis with possible termination of pregnancy in case of an affected child. Recently, PGD for hereditary breast and ovarian cancer caused by BRCA1 and BRCA2 mutations has found its way in specialized labs. We describe the route to universal single-cell PGD tests for carriers of BRCA1/2 mutations. Originally, mutation-specific protocols with one or two markers were set up and changed when new couples were not informative. This route of changing protocols was finalized after 2 years with universal tests for both BRCA1 and BRCA2 mutation carriers based on haplotyping of, respectively, 6 (BRCA1) and 8 (BRCA2) microsatellite markers in a multiplex PCR. Using all protocols, 30 couples had a total of 47 PGD cycles performed. Eight cycles were cancelled upon IVF treatment due to hypostimulation. Of the remaining 39 cycles, a total of 261 embryos were biopsied and a genetic diagnosis was obtained in 244 (93%). In 34 of the 39 cycles (84.6%), an embryo transfer was possible and resulted in 8 pregnancies leading to a fetal heart beat per oocyte retrieval of 20.5% and a fetal heart beat per embryonic transfer of 23.5%. The preparation time and costs for set-up and validation of tests are minimized. The informativity of microsatellite markers used in the universal PGD-PCR tests is based on CEPH and deCODE pedigrees, making the tests applicable in 90% of couples coming from these populations.

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“…PGD for BRCA mutations have been reported [10][11][12][13][14]. We report here our PGD approach on a breast cancer patient with unknown BRCA2 mutation, using both linkage analysis and direct mutation detection methods.…”

Section: Introductionmentioning

confidence: 99%

Preimplantation genetic diagnosis using combined strategies on a breast cancer patient with a novel genomic deletion in BRCA2

Wang

Chow

Yeung

et al. 2014

J Assist Reprod Genet

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Purpose To perform Preimplantation Genetic Diagnosis (PGD) on a paternal Brca2 unknown mutation carrier with early-onset breast cancer, whose paternal grandmother and mother had breast cancer at 60s. Method Elucidating the linkage via single sperm haplotyping on patient's carrier brother, and identifying the genomic deletion via BLAST followed by PCR screening. PGD was subsequently conducted. Result The mutant allele was found by using 4 microsatellite and 2 intragenic SNP markers. Recombination was detected in 8 % of sperms. BLAST was utilized to locate putative hairpin structure(s), followed by PCR screening with seven sets of primers. A novel 2,596 bp deletion containing exon 15~16 was identified. Due to the severity of phenotype and the integrity of exon 11 encoding RAD51 binding domain, and the fact that the patient's mother also had breast cancer at her 60s, we speculate a possible coexistence of maternal breast cancer risk allele(s). Embryo biopsy was performed on day 3. Unaffected morula and blastocyst were replaced on day 5, resulting in a singleton livebirth. A breast lump appeared in the patient after delivery without the presence of malignant cells.Conclusion Concerning the assisted reproductive option for breast cancer patients, the possibility of coexistence of multiple familial risk alleles and the significance of each mutation to the phenotype should be evaluated. To eliminate misdiagnosis resulting from recombination and/or allelic drop-out, both direct mutation detection and linkage analysis approaches may be necessary. BLAST is a very useful and cost-effective tool for identifying large genomic deletion.

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Preimplantation genetic diagnosis for BRCA1 exon 13 duplication mutation using linked polymorphic markers resulting in a live birth

Abstract: Successful PGD for BRCA1 resulted in the delivery of a live-born male. PGD using linked polymorphic markers provides an alternate option for reproduction for couples with or at risk of having inherited a BRCA1 mutation.

Cited by 39 publications

References 29 publications

Factors associated with preimplantation genetic diagnosis acceptance among women concerned about hereditary breast and ovarian cancer

Factors associated with preimplantation genetic diagnosis acceptance among women concerned about hereditary breast and ovarian cancer

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

Preimplantation genetic diagnosis using combined strategies on a breast cancer patient with a novel genomic deletion in BRCA2

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