Decision making, quality of life and prophylactic gastrectomy in carriers of pathogenic CDH1 mutations

Roberts, Geoffrey; Hardwick, Richard; Fitzgerald, Rebecca C.

doi:10.21037/tgh.2017.03.12

Cited by 4 publications

(2 citation statements)

References 14 publications

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“…There are a wide range of psychological issues associated with the medical management decision‐making process such as anxiety about PTG, uncertainty about endoscopy sensitivity, and worries about post‐PTG weight loss (Roberts et al., 2017). One study reported some CDH1 PLPV carriers’ reasons for refusing or delaying gastrectomy were confidence in the ability of endoscopy to catch cancer earlier, poor familial experiences with surgery, fertility‐related concerns, poor timing due to life circumstances, low perceived gastric cancer risk, a preference for waiting until cancer was found, and concerns about recovery (McGarragle et al., 2020).…”

Section: Introductionmentioning

confidence: 99%

CDH1 variants leading to gastric cancer risk management decision‐making experiences in emerging adults: ‘I am not ready yet’

Liu

Calzone

Fasaye

et al. 2021

Journal of Genetic Counseling

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Pathogenic/likely pathogenic variants (PLPV) in CDH1 are associated with a significantly increased lifetime risk for diffuse gastric cancer, with an average age of onset of 47 years. CDH1 PLPV carriers are recommended to have prophylactic total gastrectomy (PTG) or routine endoscopy surveillance. Emerging adults (EAs) may have unique circumstances that affect their medical management decision‐making about PTG versus endoscopy. The study aim was to use qualitative interpretative phenomenological analysis method to understand the lived experience and medical management decision‐making process for EAs carrying a CDH1 PLPV. Eligible participants were unaffected CDH1 PLPV carriers, ages 18 to 29, who had not undergone PTG and had discussed CDH1 medical management with a health provider. Semi‐structured telephone interviews were transcribed verbatim and analyzed for major themes. Results show EAs wanted to avoid developing diffuse gastric cancer, but most do not feel they are ready for PTG. They had worries about PTG related to their identity exploration, financial stability, and careers. Most did not want to pass the PLPV to their children; however, the cost of preimplantation genetic testing with in vitro fertilization was a concern. Family medical history and self‐understanding of endoscopy and PTG highly influenced medical management decision‐making. Understanding of diffuse gastric cancer detection rate using endoscopy was inconsistent among participants. Body image was not a concern for most, but they worry about dietary restrictions after PTG. Lastly, connection to peers having the same experience was important. These findings increase our understanding of the medical management decision‐making challenges for EA CDH1 carriers. EAs may take an extended time to decide what option is right for them. Thus, genetic counseling for CDH1 PLPV EA carriers requires long‐term support and education.

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Section: Introductionmentioning

confidence: 99%

CDH1 variants leading to gastric cancer risk management decision‐making experiences in emerging adults: ‘I am not ready yet’

Liu

Calzone

Fasaye

et al. 2021

Journal of Genetic Counseling

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“…Due to the inherent risks of total gastrectomy and the significant lifestyle and nutritional consequences, many patients wish to defer surgery [ 72 ]. All patients should undergo a baseline endoscopy following diagnosis.…”

Section: Resultsmentioning

confidence: 99%

Risk-reducing surgery for individuals with cancer-predisposing germline pathogenic variants and no personal cancer history: a review of current UK guidelines

et al. 2023

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Identifying healthy carriers of germline pathogenic variants in high penetrance cancer susceptibility genes offers the potential for risk-reducing surgery. The NHS England National Genomic Test Directory offers germline and somatic testing to patients with certain cancers or rare and inherited diseases, or, in some cases, to their relatives. This review summarises current UK guidelines for risk-reducing surgical interventions available for individuals with no personal history of cancer, who are determined to carry germline pathogenic variants. An electronic literature search of NICE guidelines and PubMed citable articles was performed. NICE guidelines are available for bilateral mastectomy and are currently in development for risk-reducing bilateral salpingo-oophorectomy. Guidelines developed with affiliation to, or through relevant British Surgical Societies or international consensus, are available for risk-reducing hysterectomy, polypectomy, gastrectomy, and thyroidectomy. There is a disparity in the development and distribution of national guidelines for interventions amongst tumour types. Whilst we are focusing on UK guidelines, we anticipate they will be relevant much more generally and so of interest to a wider audience including where there are no national guidelines to refer to. We suggest that, as genetic testing becomes rapidly more accessible, guideline development for interventions should be more closely aligned to those for testing.

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Psychological Burden and Preferences in CDH1 Mutation Carriers: Beyond the Cancer Diagnosis

Masiero

Pravettoni

2023

Hereditary Gastric and Breast Cancer Syndrome

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Decision making, quality of life and prophylactic gastrectomy in carriers of pathogenic CDH1 mutations

Cited by 4 publications

References 14 publications

CDH1 variants leading to gastric cancer risk management decision‐making experiences in emerging adults: ‘I am not ready yet’

CDH1 variants leading to gastric cancer risk management decision‐making experiences in emerging adults: ‘I am not ready yet’

Risk-reducing surgery for individuals with cancer-predisposing germline pathogenic variants and no personal cancer history: a review of current UK guidelines

Psychological Burden and Preferences in CDH1 Mutation Carriers: Beyond the Cancer Diagnosis

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