Clinical outcomes of preimplantation genetic testing for hereditary cancer syndromes: A systematic review

Vriesen, Natalie; Carmany, Erin P.; Natoli, Jaime L.

doi:10.1002/pd.6084

Cited by 11 publications

(5 citation statements)

References 46 publications

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“…Consequently, the confirmation of a germline variation is used to conduct healthy life-long follow-ups in asymptomatic variant carriers of PMAH families. Furthermore, the diagnosis of an inherited germline mutation in cancer predisposition genes, such as ARMC5 , can be applied in preimplantation genetic diagnosis (PGD) [ 46 , 47 , 48 ] to prevent the occurrence of cancerous patients.…”

Section: Discussionmentioning

confidence: 99%

A Novel ARMC5 Germline Variant in Primary Macronodular Adrenal Hyperplasia Using Whole-Exome Sequencing

et al. 2022

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Background: Primary macronodular adrenocortical hyperplasia (PMAH) is a rare form of adrenal Cushing’s syndrome with incomplete penetrance which may be sporadic or autosomal dominant. The inactivation of the ARMC5 gene, a potential tumor suppressor gene, is one of the associated causes of PMAH. This study aimed to identify the variant responsible for Iranian familial PMAH. Methods: The proband, a 44-year-old woman, was directed to whole-exome sequencing (WES) of the blood sample to discover a germline variant. In addition, the identified causative variant was confirmed and segregated in other and available unaffected family members. Results: The novel germline heterozygous missense variant, c.2105C>A in the ARMC5 gene, was found, and the same germline variant as the proband was confirmed in two affected sisters. This variant was detected in the brother of the proband with an asymptomatic condition and this considered because of incomplete penetrance and age-dependent appearance. The function of the ARMC5 protein would be damaged by the identified variant, according to in silico and computer analyses that followed. Conclusion: The new germline ARMC5 variation (c.2105C>A, (p. Ala702Glu)) was interpreted as a likely pathogenic variant based on ACMG and Sherloc standards. PMAH may be diagnosed early using genetic testing that shows inherited autosomal dominant mutations in the ARMC5 gene.

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Section: Discussionmentioning

confidence: 99%

A Novel ARMC5 Germline Variant in Primary Macronodular Adrenal Hyperplasia Using Whole-Exome Sequencing

et al. 2022

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“…However, the rate of acceptance of genetic testing among FDRs in mutation‐positive families is very low. Previous research showed that 46%∼70% of members of families with hereditary cancer refused genetic testing in Italy, Australia, Canada and America 7–9 . In China, there are few reports about genetic testing among the FDRs of hereditary cancer patients, while we previously discovered that 48% of the FDRs were informed about hereditary cancer in their families and only 10% of them completed genetic testing.…”

Section: Introductionmentioning

confidence: 88%

“…Previous research showed that 46%∼70% of members of families with hereditary cancer refused genetic testing in Italy, Australia, Canada and America. 7 , 8 , 9 In China, there are few reports about genetic testing among the FDRs of hereditary cancer patients, while we previously discovered that 48% of the FDRs were informed about hereditary cancer in their families and only 10% of them completed genetic testing. These findings clearly indicate that there are still barriers hindering genetic testing for hereditary cancer.…”

Section: Introductionmentioning

confidence: 99%

Fatalism and metaphor in Confucianism: A qualitative study of barriers to genetic testing among first‐degree relatives of hereditary cancer patients from China

et al. 2022

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Objective Despite the benefits, the rate of genetic testing among first‐degree relatives (FDRs; parents, children, and siblings) remains low, and the barriers to undergoing testing among FDRs in China are not clear. We explored the reasons why FDRs refused genetic testing. Methods Semi‐structured face‐to‐face interviews were conducted with 22 patients and 27 FDRs. Participants were recruited at an urban tertiary hospital in Guangzhou, South China. We used qualitative content analysis to analyse the transcripts of audio recordings and identify major themes and subthemes. Results Three major themes emerged related to FDRs' low rate of participation in genetic testing. First, there is cognitive distance from genetic testing/cancer and a lack of knowledge of preventive medicine that deepens the ‘fatalistic’ attitude towards cancer among FDRs, which leads to an enormous gap between their knowledge and understanding of genetic testing. Second, medical consultation is not valued in Confucianism, and the view of cancer as ‘bad news’ and the risk of cancer as a curse makes cancer a metaphor, which leads to exhausting arguments when persuading FDRs to undergo genetic testing. Third, physical distance from the hospital, loss of privacy, possible discrimination in many social activities and genetic testing as a source of stress and anxiety lead FDRs to fear the disruption of their daily lives. Conclusions There are many barriers to genetic testing among the FDRs of hereditary cancer patients originating from the national social and cultural context. Healthcare professionals should develop interventions rooted in culture and promote cancer risk communication between hereditary cancer patients and FDRs.

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“…A recent review by Vriesen et al reports that success rates (in terms of CPR, Clinical Pregnancy Rate, and LBR, Live Birth Rate) for CPSs are similar to those of other monogenic diseases [38].…”

Section: Rechitsky Et Al Extended the Technique To Couples With Famil...mentioning

confidence: 93%

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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Clinical outcomes of preimplantation genetic testing for hereditary cancer syndromes: A systematic review

Cited by 11 publications

References 46 publications

A Novel ARMC5 Germline Variant in Primary Macronodular Adrenal Hyperplasia Using Whole-Exome Sequencing

A Novel ARMC5 Germline Variant in Primary Macronodular Adrenal Hyperplasia Using Whole-Exome Sequencing

Fatalism and metaphor in Confucianism: A qualitative study of barriers to genetic testing among first‐degree relatives of hereditary cancer patients from China

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

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