Abstract
Hereditary cancer syndromes are inherited pathogenic genetic variants that significantly increase the risk of developing cancer. When individuals become aware of their increased probability of having cancer, the whole family is affected by this new reality and needs to adjust. However, adjustment to hereditary cancer syndromes has been mainly studied at an individual level, and research about familial adjustment remains dispersed and disorganized. To overcome this gap, this review aims to understand how families adjust to genetic testing and risk management, and to what extent the family’s adjustment influences the psychological response and risk management behaviors of mutation carriers. We conducted searches on the PubMed/Med Line, PsycInfo, SCOPUS, and Google Scholar databases and used the Mixed Methods Appraisal Tool (MMAT-v2018) to assess the methodological quality of each selected study. Thirty studies met the inclusion criteria. Most results highlighted the interdependent nature of adjustment of pathogenic variant carriers and their families. The way carriers adjust to the syndrome is highly dependent on family functioning and related to how family members react to the new genetic information, particularly partners and siblings. Couples who share their worries and communicate openly about cancer risk present a better long-term adjustment than couples who use protective buffering (not talking about it to avoid disturbing the partner) or emotional distancing. Parents need help dealing with disclosing genetic information to their children. These findings reinforce the importance of adopting a family-centered approach in the context of genetic counseling and the necessity of involving family members in research.
Highlights
Five to ten percent of all cancers are hereditary and caused by genetic pathogenic variants that significantly increase the lifetime risk of cancer when compared to the general population [1]
Our objective is to review findings from existing research investigating the psychological adjustment of the families of pre-symptomatic pathogenic variant carriers to an increased susceptibility to hereditary cancer
We focused on the period following a positive genetic test, including the long-term adjustment to personalized prevention programs to understand: (1) how do families adjust to a positive genetic test result of a pre-symptomatic member and his/her risk management behaviors? (2) to what extent does the family influence the psychological adjustment and risk management behaviors of the pre-symptomatic pathogenic variant carrier?
Summary
Five to ten percent of all cancers are hereditary and caused by genetic pathogenic variants that significantly increase the lifetime risk of cancer when compared to the general population [1]. To identify whether an individual carries a pathogenic variant that increases the risk of cancer, geneticists may prescribe genetic tests for cancer susceptibility to individuals from hereditary cancer families [2,3]. When a healthy individual is identified as a pre-symptomatic pathogenic variant carrier, cancer risk may be reduced through enhanced.
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