المفاهيم الأساسية
Family history impacts breast cancer risk.
الملخص
The study explores how family history affects the risk of developing breast cancer in individuals with pathogenic cancer syndrome variants. Key findings include:
- Family history plays a significant role in the risk associated with pathogenic variants.
- First-degree family history increases the risk of breast cancer in carriers of pathogenic BRCA1 and BRCA2 variants.
- Penetrance to age 60 is higher in individuals with a first-degree family history.
- Lynch syndrome patients with a family history have a higher risk of colorectal cancer.
- Recommendations include considering family history in counseling patients on follow-up care.
- Universal policies on returning pathogenic cancer predisposing genetic variants should consider family history.
- Overmanagement of asymptomatic individuals without a family history of disease should be avoided.
الإحصائيات
"After researchers controlled for sex, death, recruitment center, screening, and prophylactic surgery, those with a pathogenic BRCA1 (n = 230) or BRCA2 (n = 611) variant had an increased risk of breast cancer, and the risk was higher in those with a first-degree family history (relative hazard, 10.3 and 7.8, respectively), than in those without a first-degree family history (relative hazard, 7.2 and 4.7), the investigators reported."
"Penetrance to age 60 years was also higher in those with vs. without a first-degree family history (44.7% and 24.1% vs 22.8% and 17.9%, respectively)."
"Similarly, patients with Lynch syndrome and a pathogenic MLH1, MSH2, or MSH6 variant (n = 89, 71, and 421, respectively) had an increased risk of colorectal cancer, and that risk was higher in those with vs. without a family history (relative hazard, 35.6, 48.0, and 9.9 vs. 13.0, 15.4, and 7.2)."
"Penetrance to age 60 was higher for those with a pathogenic MLH1 and MSH2 variant with vs. without a family history (30.9% and 38% vs. 20.5% and 8.3%)."
اقتباسات
"This difference in penetrance in carrier individuals, if replicated in larger studies, could be sufficient to justify stratifying just individuals with a family history into high-risk groups currently eligible for specialist clinical care." - Leigh Jackson, PhD
"It will be very difficult to counsel individuals as to their particular risk profile without further pedigree construction or investigations." - Study Investigators