Citations 2
Risk of Breast Cancer After Ovarian Cancer in Women With a Pathogenic/Likely Pathogenic Variant in BRCA1 or BRCA2
Apostol, Adriana Ionelia , Gronwald, J., Cybulski, C., Kim, Raymond H. , Møller, P., Karlan, B., Bordeleau, Louise , Schrader, Intan , Cajal, Teresa Ramón y , Pal, Tuya, Eisen, Andrea, Singer, Christian F., Couch, Fergus J., Zakalik, Dana , Metcalfe, Kelly , Olopade, Olufunmilayo, Tung, Nadine, Fruscio, R, Foulkes, William D., Sun, P., Lubinski, J., Narod, Steven A., Sweet, Kevin , Elser, Christine , Panchal, Seema, Wiesner, Georgia L. , Armel, Susan, Steele, Linda, Serfas, Kim, Cullinane, Carey A., Reilly, Robert E., Mercer, L J, Dungan, Jeffrey R., Cohen, Stephanie, Neuhausen, Susan, Sun, Sophie, Blum, Joanne L., Stempa, Klaudia , Graham, Tracy Ann, Seca, Marta , Marchette, Martina Delle , Dell'Oro, Cristina, Alfonso, Rosa Moreno, Lopez, Consol, Cusco, Francesco, Karlan, Beth Y. , Schrader, Kasmintan A. , Eisen, Andrea , Apostol, Adriana I , Cybulski, Cezary , Karlan, Beth Y , Ramón Y Cajal, Teresa , Singer, Christian F , Couch, Fergus J. , Olopade, Olufunmilayo I , Tung, Nadine , Fruscio, Robert , Foulkes, William D , Aeilts, Amber M , Lubinski, Jan , Narod, Steven A , Kotsopoulos, Joanne , Metcalfe, Kelly A , Eisen, Andrea , Bordeleau, Louise , Kim, Raymond H , Cybulski, Cezary , Møller, Pål , Pal, Tuya , Singer, Christian F. , Couch, Fergus J. , Olopade, Olufunmilayo I. , Tung, Nadine , Foulkes, William D. , Aeilts, Amber M. , Lubiński, Jan , Narod, Steven A. , Kotsopoulos, Joanne , Steele, Linda, Saal, Howard M. , Rayson, Daniel , Mercer, Leanne, Cohen, Stephanie, Neuhausen, Susan L, Senter, Leigha , Blum, Joanne Lorraine , Negri, Serena , Dell’Oro, Cristina, Inzoli, Alessandra , Alfonso, Rosa
Journal of Clinical Oncology | February 28, 2026 | Volume: 44 | Issue: 10 | Pages: 883-892
PURPOSE BRCA carriers face high risks of developing both breast and ovarian/fallopian tube cancers (hereafter referred to as ovarian ). Among BRCA carriers with ovarian cancer, it is not clear whether the risk of breast cancer is sufficiently high that risk-reducing mastectomy should be offered. This study aimed to assess the risk of breast cancer BRCA carriers after a diagnosis of ovarian cancer. METHODS We included women with a pathogenic/likely pathogenic variant in BRCA1 or BRCA2 , a diagnosis of ovarian cancer, and no other cancer history and no risk-reducing bilateral mastectomy. Women were followed for incident breast cancer from the date of ovarian cancer diagnosis or the date of baseline questionnaire, whichever came last. The 5-, 10-, and 15-year cumulative risks of breast cancer were compared for women with ovarian cancer and an age-matched set of control women without ovarian cancer. RESULTS A total of 960 participants with ovarian cancer were identified (814 BRCA1 and 146 BRCA2 carriers). After a mean follow-up of 4.9 years, 41 women (4.3%) developed breast cancer, at a mean age at diagnosis of 57.5 years (range, 39-74). Actuarial cumulative breast cancer risks after ovarian cancer were 4.4%, 8.9%, and 11.5% at 5, 10, and 15 years, respectively. Only three breast cancer–related deaths occurred. Among 741 age-matched BRCA carriers without ovarian cancer, actuarial cumulative risks of breast cancer were 20.9%, 38.6%, and 47.2% at 5, 10, and 15 years, respectively. The hazard ratio for breast cancer, after an ovarian cancer diagnosis, compared with no ovarian cancer, was 0.18 ([95% CI, 0.12 to 0.27]; P < .0001). CONCLUSION After ovarian cancer, BRCA carriers have a relatively low risk of breast cancer. Risk-reducing mastectomy should not be recommended routinely, but might be considered for long-term survivors. Magnetic resonance imaging surveillance and/or mammography is a realistic alternative.
The Risk of Breast Cancer According to Mutation Type and Position in Carriers of a Pathogenic Variant in BRCA1
Apostol, Adriana Ionelia , Metcalfe, Kelly , Jorgji, Dimitri , Cybulski, Cezary , Gronwald, Jacek , Lubiński, Jan , Møller, Pål , Kim, Raymond H. , Aeilts, Amber M. , Cajal, Teresa Ramón y , Pal, Tuya , Bordeleau, Louise , Karlan, Beth Y. , Couch, Fergus J., Zakalik, Dana , Fruscio, Robert , Tung, Nadine, Sun, Ping, Monteiro, Álvaro N.A. , Narod, Steven A. , Akbari, Mohammad R. , Apostol, Adriana I , Jorgji, Dimitri , Cybulski, Cezary , Gronwald, Jacek , Lubinski, Jan , Kim, Raymond H , Aeilts, Amber M , Ramón Y Cajal, Teresa , Pal, Tuya , Karlan, Beth Y , Fruscio, Robert , Monteiro, Alvaro N , Narod, Steven A , Metcalfe, Kelly A , Bordeleau, Louise , Kotsopoulos, Joanne , Singer, Christian F. , Foulkes, William D. , Sun, Ping
Current Oncology | December 15, 2025 | Volume: 32 | Issue: 12 | Pages: 705
Background: Carriers of a pathogenic variant (PV) in BRCA1 face a high risk of breast cancer. This study estimated the risk of developing breast cancer according to mutation type and location. Methods: BRCA1 carriers with no personal history of breast cancer or bilateral mastectomy were included. Detailed information on clinical and family history was collected by questionnaire. Survival analysis was used to estimate 15-year cumulative risk according to PV type and location. Results: A total of 3677 BRCA1 carriers were followed for a mean of 7.2 years (range 0.1–15.0 years); 481 incident breast cancers were documented. Overall, the 15-year cumulative incidence was 25%. Risk estimates varied by exon, ranging from 9% (exon 21) to 19% (exon 12) to 36% (exon 15); however, strata were small. Carriers of four founder mutations common in Eastern Europe (c.5263_5264insC, c.181T > G, c.66_67delAG and c.4034delA) experienced a lower-than-expected cancer risk (15.9–24.4%) compared to other PVs (28.8%) (p = 0.02). Conclusions: Although our data suggests some variability in penetrance based on specific BRCA1 PV, this was based on a large number of founder mutations. Breast cancer management strategies should continue to be based on comprehensive risk assessment.