Parent Of Origin Effects On Family Communication Of Risk Inbrca Plus Women: A Qualitative Investigation Of Human Factors In Cascade Screening

CANCERS(2020)

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摘要
Pathogenic germline variants in Breast Cancer 1/2 (BRCA) genes confer increased cancer risk. UnderstandingBRCAstatus/risk can enable family cascade screening and improve cancer outcomes. However, more than half of the families do not communicate family cancer history/BRCAstatus, and cancer outcomes differ according to parent of origin (i.e., maternally vs. paternally inherited pathogenic variant). We aimed to explore communication patterns around family cancer history/BRCArisk according to parent of origin. We analyzed qualitative interviews (n= 97) using template analysis and employed the Theory of Planned Behavior (TPB) to identify interventions to improve communication. Interviews revealed sub-codes of 'male stoicism and 'paternal guilt' that impede family communication (template code: gender scripting). Conversely, 'fatherly protection' and 'female camaraderie' promote communication of risk. The template code 'dysfunctional family communication' was contextualized by several sub-codes ('harmful negligence', 'intra-family ignorance' and 'active withdrawal of support') emerging from interview data. Sub-codes 'medical misconceptions' and 'medical minimizing' deepened our understanding of the template code 'medical biases'. Importantly, sub-codes of 'informed physicians' and 'trust in healthcare' mitigated bias. Mapping findings to the TPB identified variables to tailor interventions aimed at enhancing family communication of risk and promoting cascade screening. In conclusion, these data provide empirical evidence of the human factors impeding communication of familyBRCArisk. Tailored, theory-informed interventions merit consideration for overcoming blocked communication and improving cascade screening uptake.
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关键词
BRCA mutation, cascade genetic testing, coping cancer, family communication, genetic testing, theory of planned behavior
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