Predictive testing for BRCA1/2: attributes, risk perception and management in a multi-centre clinical cohort

Area of Science:

• Genetics
• Oncology
• Psychology

Background:

• Predictive genetic testing for hereditary breast and ovarian cancer (HBOC) is increasingly offered to at-risk individuals.
• BRCA1 and BRCA2 gene mutations significantly increase lifetime risk for breast and ovarian cancers.
• Understanding the psychological impact and decision-making factors in this population is crucial.

Purpose of the Study:

• To examine the characteristics of adults at high risk for hereditary breast/ovarian cancer offered predictive genetic testing.
• To evaluate mental health, cancer risk perception, and risk management preferences in this cohort.
• To identify motivations for undergoing genetic testing for BRCA1/2 mutations.

Main Methods:

• A multi-centre UK study involving 312 individuals from families with known BRCA1/2 mutations.
• Participants were assessed during genetic counselling prior to predictive genetic testing.
• Data collected included mental health status, perceived cancer risk, and risk management choices.

Main Results:

• No gender differences in psychiatric morbidity were observed.
• Younger women (<50 years) reported higher levels of cancer-related worry compared to older women.
• Most participants overestimated their personal risk for breast and ovarian cancer, with limited accurate knowledge of population risks.

Conclusions:

• Younger women may be particularly vulnerable to psychological distress when offered predictive genetic testing for BRCA1/2 mutations.
• Cancer worry was not significantly associated with perceived risk or uptake of most risk management options, except breast self-examination.
• Findings highlight the need for tailored psychological support during the genetic testing process for hereditary cancer syndromes.