Preimplantation genetic testing for carriers of BRCA1/2 pathogenic variants

Vuković, Petra; Peccatori, Fedro Alessandro; Massarotti, Claudia; Miralles, Manuel Selvi; Beketić-Orešković, Lidija; Lambertini, Matteo

doi:10.1016/j.critrevonc.2020.103201

Cited by 31 publications

(25 citation statements)

References 131 publications

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“…Healthy carriers should be advised to not delay pregnancy beyond 35 years. Limited data exist about fertility outcomes in BRCA-mutated BC patients [47]. Oktay et al first described in 2010 a diminished ovarian response and lower number of oocytes for FP in BRCA-mutated cancer patients [48].…”

Section: Main Textmentioning

confidence: 99%

“…The second one may benefit to preserve their reproductive potential before starting a gonadotoxic therapy and/or adjuvant endocrine therapy (ET, which implies a delay in childbearing) [72]. Moreover, it would give all BRCA pathogenic variant carriers the possibility to access preimplantation genetic diagnosis for monogenic diseases (PGT-M) [47,73]. In spite of these critical issues, both the counseling and the use of this FP option are still suboptimal, essentially for safety concerns [74][75][76].…”

Section: Main Textmentioning

confidence: 99%

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Reproductive issues in carriers of germline pathogenic variants in the BRCA1/2 genes: an expert meeting

Buonomo

Massarotti

Dellino

et al. 2021

BMC Med

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Background Healthy individuals and patients with cancer who are carriers of germline pathogenic variants in the BRCA1/2 genes face multiple reproductive challenges that require appropriate counseling and specific expertise. Main body On December 5th–7th, 2019, patient advocates and physicians with expertise in the field of reproductive medicine, fertility preservation, and oncology were invited to “San Giuseppe Moscati” Hospital in Avellino (Italy) for a workshop on reproductive management of women with germline pathogenic variants in the BRCA1/2 genes. From the discussion regarding the current evidence and future prospective in the field, eight main research questions were formulated and eight recommendations were developed regarding fertility, fertility preservation, preimplantation genetic testing, and pregnancy in healthy carriers and patients with cancer. Conclusion Several misconceptions about the topic persist among health care providers and patients often resulting in a discontinuous and suboptimal management. With the aim to offer patient-tailored counseling about reproductive issues, both awareness of current evidences and research should be promoted.

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Section: Main Textmentioning

confidence: 99%

Section: Main Textmentioning

confidence: 99%

Reproductive issues in carriers of germline pathogenic variants in the BRCA1/2 genes: an expert meeting

Buonomo

Massarotti

Dellino

et al. 2021

BMC Med

Self Cite

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“…Hereditary factors, in particular germline pathogenic variants in the BRCA genes, are other important features that may potentially influence the risk of treatment-induced POI. [47][48][49] Pathogenic variants of BRCA lead to impaired DNA double-strand breaks repair mechanism; this can be associated with the decreased possibility to counteract genotoxic stress and the subsequent potential accelerated loss of ovarian reserve, following the accumulation of double-strand breaks in the oocytes. 50 Evidence suggests that baseline ovarian reserve and performance of fertility preservation strategies may be impaired in breast cancer patients with germline pathogenic variants in the BRCA genes.…”

Section: Germline Pathogenic Variants In Breast Cancer Susceptibility Genesmentioning

confidence: 99%

Comparing the Gonadotoxicity of Multiple Breast Cancer Regimens: Important Understanding for Managing Breast Cancer in Pre-Menopausal Women

Martelli¹,

Latocca²,

Ruelle³

et al. 2021

BCTT

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Over the last several decades, improvements in breast cancer treatment have contributed to increased cure rates for women diagnosed with this malignancy. Consequently, great importance should be paid to the long-term side effects of systemic therapies. For young women (defined as per guideline ≤40 years at diagnosis) who undergo chemotherapy, one of the most impactful side effects on their quality of life is premature ovarian insufficiency (POI) leading to fertility-related problems and the side effects of early menopause. Regimens, type, and doses of chemotherapy, as well as the age of patients and their ovarian reserve at the time of treatment are major risk factors for treatment-induced POI. For these reasons, childbearing desire and preservation of ovarian function and/or fertility should be discussed with all premenopausal patients before planning the treatments. This manuscript summarizes the available fertility preservation techniques in breast cancer patients, the risk of treatment-induced POI with different anticancer treatments, and the possible procedures to prevent it. A special focus is paid to the role of oncofertility counseling, as a central part of the visit in this setting, during which the patient should receive all the information about the potential consequences of the disease and of the proposed treatment on her future life.

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“…Though it was found to be cost effective, 50 the issue remains controversial and many raised ethical concerns, too. 51,52 application, availability and affordability of next generation sequencing, testing for cancer-predisposing genes beyond BRCA1 and BRCA2, is increasingly utilized in routine clinical practice. Additionally, the complexity of existing guidelines, which may lead to poor referral for genetic testing, and the relatively high percentage of pathogenic variants in patients not eligible for testing using published guidelines, may enhance the concept of universal genetic testing of all breast cancer patients, regardless of their personal or family history of cancer.…”

Section: Future Directionsmentioning

confidence: 99%

“…Though it was found to be cost effective, 50 the issue remains controversial and many raised ethical concerns, too. 51 , 52 …”

Section: Future Directionsmentioning

confidence: 99%

Expanding the search for germline pathogenic variants for breast cancer. How far should we go and how high should we jump? The missed opportunity!

Abdel‐Razeq

2021

Oncol Rev

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Since the identification of BRCA1 and BRCA2 genes 3 decades ago, genetic testing and genetic counseling have become an integral part of routine clinical practice. The risk of breast cancer among carriers of germline pathogenic variants, like BRCA1 and BRCA2, is well established. Risk-reducing interventions, including bilateral mastectomies and salpingo-oophorectomies are both effective and have become more acceptable. Many researchers and professional societies view current guidelines as restrictive and may miss many at-risk women, and are calling to expand testing to include all patients with breast cancer, regardless of their personal or family history of cancer, while others are calling for wider adoption to even include all healthy women at age 30 or older. This review will address expanding testing in two directions; horizontally to include more patients, and even healthy women, and vertically to include more genes using next-generation sequencing-based multi-gene panel testing.

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Preimplantation genetic testing for carriers of BRCA1/2 pathogenic variants

Cited by 31 publications

References 131 publications

Reproductive issues in carriers of germline pathogenic variants in the BRCA1/2 genes: an expert meeting

Reproductive issues in carriers of germline pathogenic variants in the BRCA1/2 genes: an expert meeting

Comparing the Gonadotoxicity of Multiple Breast Cancer Regimens: Important Understanding for Managing Breast Cancer in Pre-Menopausal Women

Expanding the search for germline pathogenic variants for breast cancer. How far should we go and how high should we jump? The missed opportunity!

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