Preimplantation genetic diagnosis for mutated BRCA genes

Wilkinson, Emma

doi:10.1016/s1470-2045(12)70321-2

Cited by 11 publications

(11 citation statements)

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“…In a recent report on the largest cohort of PGD on BRCA mutation, 2 out of 70 women were diagnosed to have breast cancer within 3 months post-PGD treatment while breast screening had been negative before treatment [10]. But Kotsopoulos et al [22] reported no elevated risk of recurrence of the cancer after fertility treatment.…”

Section: Discussionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 99%

“…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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“…Pre-implantation genetic diagnosis to avoid passing on the mutation is feasible and is considered an option to be discussed with couples [15]. On the contrary, due to the high risk to develop ovarian cancer, cryopreservation of ovarian tissue and subsequent reimplantation should not be generally proposed in breast cancer patients with BRCA mutations (Figure 1).…”

Section: Pregnancy After Breast Cancermentioning

confidence: 99%

“…Given the increasing risk of ovarian cancer with age, prophylactic bilateral salpingo-oophorectomy is generally recommended between the ages of 35 and 40 years and upon completion of childbearing [12][13][14]. Moreover, some patients wish to eliminate the mutation from future offspring through pre-implantation genetic diagnosis [15]. Finally, anticancer treatments are associated with the risk of developing long-term treatment-related POF [16].…”

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confidence: 99%

Fertility Preservation in BRCA -Mutated Breast Cancer Patients

Lambertini

Mastro

2016

Breast Cancer Manag.

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A possible side effect of anticancer treatments in premenopausal women is the occurrence of premature ovarian failure and subsequent infertility. The inheritance of a deleterious genetic mutation in the BRCA1 or 2 genes generates the hereditary breast and ovarian cancer syndrome. Additional fertility counseling for breast cancer patients with BRCA mutations is warranted to educate them about the available fertility preservation options in the context of their unique concerns (i.e., prophylactic gynecologic surgery, pre-implantation genetic diagnosis and risk of developing long-term treatment-related premature ovarian failure). In this report we discuss the available options for fertility preservation in women with breast cancer, with a particular focus on the specific issues in breast cancer patients with BRCA mutations. Keywords• BRCA mutations • breast cancer • fertility preservation Breast cancer is the most common tumor diagnosed in women of reproductive age [1]. As a consequence of the improved prognosis with high survival rates observed in recent years, an increased emphasis has been given to the quality of life of cancer survivors.A possible adverse event of anticancer treatments in premenopausal women is the occurrence of premature ovarian failure (POF) [2]. The development of treatment-induced POF and subsequent practice points • In premenopausal breast cancer patients, premature ovarian failure and subsequent infertility are possible side effects of anticancer treatments.• The inheritance of a deleterious mutation in the BRCA1 or 2 genes generates the hereditary breast and ovarian cancer syndrome.• Additional fertility counseling for breast cancer patients with BRCA mutations is warranted to educate them about the available fertility preservation options in the context of their unique concerns.• Embryo and oocyte cryopreservation are considered established procedures for fertility preservation in breast cancer patients including those with BRCA mutations.• Due to the high risk to develop ovarian cancer, cryopreservation of ovarian tissue and subsequent reimplantation should not be generally proposed in breast cancer patients with BRCA mutations.• Temporary ovarian suppression with luteinizing hormone-releasing hormone analogues in breast cancer patients with BRCA mutations might be considered in women diagnosed at a very young age (i.e., some years before the recommended age for prophylactic bilateral salpingo-oophorectomy).For reprint orders, please contact: reprints@futuremedicine.com

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“…Preconceptual counseling for breast cancer survivors should include a discussion about these women's increased risk of depression/anxiety and referrals for genetic counseling 67 . Preimplantation genetic testing is available for BRCA1 or BRCA2, if the breast cancer survivor is interested 68 …”

Section: Primary Care Practice and Breast Cancer Treatmentmentioning

confidence: 99%

Overview of Breast Cancer Treatment and Reconstruction for Primary Care Providers

Carlson¹,

King²

2012

J Midwife Womens Health

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More women are diagnosed and treated for breast cancer today than at any time in the past. New technologies in the treatment of breast cancer and breast reconstruction are changing morbidity and mortality realities for women diagnosed with breast cancer. Primary care providers in women's health care can provide valuable support, education, and advocacy for their clients who are dealing with breast cancer. This article reviews current breast cancer treatment guidelines, information on breast reconstruction after cancer, and primary care recommendations for post-breast cancer care.

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Preimplantation genetic diagnosis for mutated BRCA genes

Cited by 11 publications

References 0 publications

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

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

Fertility Preservation in BRCA -Mutated Breast Cancer Patients

Overview of Breast Cancer Treatment and Reconstruction for Primary Care Providers

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