Information needs on breast cancer genetic and non-genetic risk factors in relatives of women with a BRCA1/2 or PALB2 pathogenic variant

Abstract

Objectives Comprehensive breast cancer (BC) risk models integrating effects of genetic (GRF) and non-genetic risk factors (NGRF) may refine BC prevention recommendations. We explored the perceived information received on BC risk factors, and related characteristics, in female relatives of women with a BRCA1/2 or PALB2 pathogenic variant, undergoing BC risk assessment using the CanRisk© prediction tool. Methods Of 200 consecutive cancer-free women approached after the initial genetic consultation, 161 (80.5%) filled in questionnaires on their perception of information received and wished further information on BC risk factors (e.g., being a carrier of a moderate risk altered gene, personal genetic profile, lifestyles). Multilevel multivariate linear models were performed accounting for the clinician who met the counselee and exploring the effect of counselees’ socio-demographic, familial and psychological characteristics on the perceived extent of information received. Results Perceived no/little information received and wish for further information were more frequent for NGRF (>50%) than for GRF, especially high-risk genes (<20%). Perceived amount of information received and desire for further information were inversely correlated (p=<0.0001). Higher education level related to lower perceived levels of information received on GRF. Younger counselees' age (β = 0.13, p = 0.02) and less frequent engagement coping (e.g., inclination to solicit information) (β = 0.24, p = 0.02) related to lower perceived information received about NGRF. Other assessed counselees’ features were not found to be associated to GRF and NGRF information perception. Conclusions Awareness of counselees’ perceived lack of information on BC risk factors indicates a need to enhance evidence-based information on BC NGRF especially.

Exploring the Relationship between Gut Microbiota and Breast Cancer Risk in European and East Asian Populations Using Mendelian Randomization

“…According to the International Agency for Research on Cancer of the World Health Organization in 2021, the incidence of breast cancer has surpassed that of lung cancer, becoming the most common cancer worldwide [1] . The pathogenesis of breast cancer is complex, with numerous identi ed risk factors, including genetic mutations (BRCA1, BRCA2) [2] , lifestyle factors (alcohol consumption, smoking, high-fat diet, lack of exercise, intake of exogenous hormones such as oral contraceptives), reproductive history (early menarche, late menopause, nulliparity or late childbearing) [3] , obesity, and radiation exposure. Given the multifactorial nature of this disease, there are likely unknown factors involved in breast cancer development.…”

Harnessing Epigenetics for Breast Cancer Therapy: The Role of DNA Methylation, Histone Modifications, and MicroRNA

“…The risk of developing the disease is much higher in genetically predisposed women. There is no doubt that the genetic background is of key importance at every stage of the disease, starting with diagnosis and prognosis, monitoring the progression and choosing the right treatment protocol [ 3 , 4 , 5 , 6 , 7 ].…”

Mendelian randomization analysis revealed a gut microbiota–mammary axis in breast cancer

“…Approximately 5%–10% of breast cancers are related to genetic factors, such as mutations in genes including BRCA1 and BRCA2. Other factors, including diet, exercise, and body weight, have also been linked to the incidence of breast cancer ( Brédart et al, 2021 ).…”