Fertility counseling in women with hereditary cancer syndromes

Somigliana, Edgardo; Costantini, Maria Paola; Filippi, Francesca; Terenziani, Monica; Riccaboni, A.; Nicotra, Valeria; Rago, Rocco; Paffoni, A.; Mencaglia, Luca; Magnolfi, Stefania; Zuccarello, Daniela; Rienzi, Laura; Spinella, Francesca; Capalbo, Antonio; Scaravelli, Giulia; Testa, Salvo

doi:10.1016/j.critrevonc.2022.103604

Cited by 8 publications

(6 citation statements)

References 40 publications

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“…Approximately 5-10% of cancers occur in the context of HCS. Among HCS, hereditary breast and ovarian cancer syndrome and Lynch syndrome are the two most common, affecting about 1 in 300-500 and 1 in 400-500 individuals, respectively, in the West [2]. The evaluation of hereditary cancer syndrome plays a key role in the recognition of people with higher risk of contracting and developing a specific type of cancer.…”

Section: Discussionmentioning

confidence: 99%

“…The most common types of hereditary cancer syndromes inherited by women are breast cancer, ovarian cancer and hereditary non-polyposis colorectal cancer (HNPCC), also named Lynch syndrome (LS). People affected by LS have a higher probability of developing colorectal cancer (50-70%), endometrial carcinomas (40-60%), and several other malignancies including cancer of the ovary, stomach, and pancreas [1,2]. LS is caused by autosomal-dominant germline mutations in DNA mismatch repair genes (MMR genes).…”

Section: Introductionmentioning

confidence: 99%

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PGT-M, a Useful Tool to Manage the Lynch Syndrome Transmission

Listorti,

Manzo,

Arrivi

et al. 2023

IJMS

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Lynch syndrome is one of the most common hereditary cancer sensitivity syndromes and is caused by autosomal-dominant germline mutations in DNA mismatch repair genes. In patients affected by this syndrome, pre-implantation genetic testing for monogenic disorders (PGT-M) could be the elective technique used to prevent the transmission of this hereditary syndrome to offspring. Notably, despite the severity of the condition, some authors have observed a markedly lower demand for PGT-M in these patients compared to those with other hereditary conditions. A 34-year-old woman with a medical history of Lynch syndrome associated with endometrial cancer came to the Villa Mafalda fertility center in Rome in order to conceive a healthy baby. In a pre-implantation genetic testing for aneuploidy (PGT-A) + PGT-M cycle, eight blastocysts were formed. Six out of eight blastocysts were affected by the same mother syndrome. One of the other two was aneuploid and the other one was a mosaic embryo, which resulted in a healthy pregnancy. The aim of this report is to emphasize the importance of a multidisciplinary approach to managing patients with this condition. In vitro fertilization (IVF), specifically PGT-M, is a tool that allow patients to conceive biological children with lower risk of inheriting the disease.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

PGT-M, a Useful Tool to Manage the Lynch Syndrome Transmission

Listorti,

Manzo,

Arrivi

et al. 2023

IJMS

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“…Otherwise, in recent years Preimplantation Genetic Testing (PGT) on embryos at the blastocyst stage, as part of a medically assisted fertilization process, has been steadily rising in priority [16]. However, the utilization of PGT for CPSs is still constrained by various factors.…”

Section: Reproductive Choices Available To Patients Affected By Cpssmentioning

confidence: 99%

“…However, the utilization of PGT for CPSs is still constrained by various factors. These include insufficient awareness among medical professionals regarding preimplantation genetic tests, limited understanding of their applicability [17], an ongoing ethical debate surrounding the appropriateness and acceptability of the procedure for hereditary oncological conditions [16] and challenges related to the accessibility and costs associated with PGT-M programs; these challenges encompass economic considerations as well as the psychological impact on individuals [18,19].…”

Section: Reproductive Choices Available To Patients Affected By Cpssmentioning

confidence: 99%

Public Awareness and Acceptability of PGT-M in Cancer Predisposition Syndromes

Calosci,

Passaglia,

Gabbiato

et al. 2023

Genes

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Cancer Predisposition Syndromes (CPSs), also known as Hereditary Cancer Syndromes (HCSs), represent a group of genetic disorders associated with an increased lifetime risk of developing cancer. In this article, we provide an overview of the reproductive options for patients diagnosed with CPS, focusing on the emerging role of Preimplantation Genetic Testing for Monogenic disorders (PGT-M). Specifically, we conducted a literature review about the awareness and acceptability of its application to CPSs. Based on the available data, the awareness of the applicability of PGT-M for CPSs appears to be limited among both patients and physicians, and a heterogeneous set of factors seems to influence the acceptability of the procedure. Our findings highlight the need for increasing education about the use of PGT-M for CPSs. In this context, guidelines developed by professional or institutional bodies would represent a useful reference tool to assist healthcare professionals in providing proper preconception counseling.

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“…Fertility preservation to prevent the effects of cancer treatments on ovarian function should be preceded by personalized and early fertility counseling. Carriers should be informed about oocytes cryopreservation, either before or after tumor diagnosis, but should also be aware of the risk of transmission [187]. There are no specific guidelines about fertility preservation in HCS, and only few papers, mostly focusing on BRCA-1/2 carriers, are reported.…”

Section: Fertility Preservation In Women With Hereditary Cancer Syndr...mentioning

confidence: 99%

Fertility after Cancer: Risks and Successes

Tucci

Galati

Mattei

et al. 2022

Cancers

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The incidence of cancer in reproductive-aged women is 7%, but, despite the increased number of cancer cases, advances in early diagnosis and treatment have raised the survival rate. Furthermore, in the last four decades, there has been a rising trend of delaying childbearing. There has been an increasing number of couples referred to Reproductive Medicine Centers for infertility problems after one partner has been treated for cancer. In these cases, the main cause of reduced fertility derives from treatments. In this review, we describe the effects and the risks of chemotherapy, radiotherapy, and surgery in women with cancer, and we will focus on available fertility preservation techniques and their efficacy in terms of success in pregnancy and live birth rates.

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Fertility counseling in women with hereditary cancer syndromes

Cited by 8 publications

References 40 publications

PGT-M, a Useful Tool to Manage the Lynch Syndrome Transmission

PGT-M, a Useful Tool to Manage the Lynch Syndrome Transmission

Public Awareness and Acceptability of PGT-M in Cancer Predisposition Syndromes

Fertility after Cancer: Risks and Successes

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