Breast cancer risk factors information needs and genetic knowledge: cross-sectional study in relatives of BRCA1/2 or PALB2 positive probands after the initial genetic consultation for cancer risk assessment using BOADICEA extended version - Archive ouverte HAL Access content directly
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Breast cancer risk factors information needs and genetic knowledge: cross-sectional study in relatives of BRCA1/2 or PALB2 positive probands after the initial genetic consultation for cancer risk assessment using BOADICEA extended version

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Abstract

Objectives/purpose: New breast cancer (BC) risk assessment models allow integrating effects of the family cancer history, known rare high- or moderate-risk susceptibility variants, common susceptibility variants combined in a polygenic risk score (PRS), and non-genetic factors (NGF). Once their clinical utility is validated, these estimates will enable more precise and personalised risk assessment and prevention or screening counselling. We explore BC risk factors information needs and genetic knowledge in female relatives of BRCA1/2 or PALB2 gene positive probands after their initial genetic counselling. Counselees provided informed consent for BC risk assessment that used the CanRisk online prediction tool and computes breast/ovarian cancer risk based on the BOADICEA extended model incorporating new rare susceptibility variants, the PRS and NGF. Methods: Counselees were consecutively accrued. A cross-sectional survey was performed using questionnaires addressing their perceived probability of carrying a pathogenic variant, perceived risk of breast/ovarian cancer, the information received about breast cancer risk factors (e.g., being a carrier of a moderate risk altered gene, personal genetic profile, lifestyle habits like smoking) and their wish for additional information. They also completed an adapted breast cancer genetic knowledge questionnaire addressing understanding of gene panel testing and personalized breast cancer risk assessment. Results: On the 1st of December 2020, 200 counselees were included. Data analyses are in progress. Conclusions and clinical implications: Assessing information needs and understanding in counselees undergoing extended breast cancer risk assessment will provide guidance for developing strategies for communicating personalized breast/ovarian cancer risk in routine practice.
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Dates and versions

hal-03482520 , version 1 (16-12-2021)

Identifiers

  • HAL Id : hal-03482520 , version 1

Cite

Anne Brédart, Antoine de Pauw, Amélie Anota, Jean-Luc Kop, Anja Tüchler, et al.. Breast cancer risk factors information needs and genetic knowledge: cross-sectional study in relatives of BRCA1/2 or PALB2 positive probands after the initial genetic consultation for cancer risk assessment using BOADICEA extended version. 22th IPOS World Congress of Psycho-Oncology and Psychosocial Academy, May 2021, Kyoto, Japan. ⟨hal-03482520⟩
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