Basser Research Center for BRCA at the Abramson Cancer Center of the University of Pennsylvania, Philadelphia, PA
Clinton Yam , Jill Stopfer , Amanda Brandt , Jacquelyn Powers , Jessica M. Long , Kara Noelle Maxwell , Angela R. Bradbury , Katherine L. Nathanson , Susan M. Domchek
Background: BRCA1/2 mutation carriers have an elevated lifetime risk of developing breast cancer. Knowledge of one’s BRCA1/2 mutation status may aid earlier detection of breast cancers due to increased awareness and screening with breast MRIs. Methods: Retrospective analysis of tumor characteristics of BRCA1/2 mutation carriers known to our institution who were diagnosed with breast cancer from 1/1/2009 - 12/31/2013. Results: 106 BRCA1/2 mutation carriers were diagnosed with their first breast cancer during the study period. 82 patients received care primarily at our clinical sites and were included in the study. 19.5% (16/82) were known BRCA1/2 mutation carriers prior to breast cancer diagnosis and the remaining 66 patients had genetic testing after cancer diagnosis. There were no differences in the median age at cancer diagnosis (p = 0.87) or distribution of BRCA1 vs BRCA2 mutation carriers between the 2 groups (p = 0.18). 62.5% (10/16) of known carriers were diagnosed with breast cancer following an abnormal MRI vs 0/66 of those identified as carriers only after breast cancer diagnosis (Table 1). Patients who knew their BRCA1/2 mutation status were more likely to have smaller tumors (p = 0.008) and node negative disease (p = 0.004). There were no differences in the ER, PR or Her2 statuses between the 2 groups. Conclusions: BRCA1/2 mutation carriers who have knowledge of their genetic status are more likely to have early stage disease at the time of breast cancer diagnosis, demonstrating the utility of identifying unaffected carriers who benefit from enhanced screening for early detection.
Known at diagnosis (n = 16) | Unknown at diagnosis (n = 66) | p value | |
---|---|---|---|
Years (range) | |||
Median age | 40 (25 - 70) | 42.5 (28 - 74) | 0.87 |
Number (%) | |||
BRCA | |||
BRCA1 | 11 (68.8) | 33 (50) | 0.18 |
BRCA2 | 5 (31.3) | 33 (50) | |
Method of diagnosis | |||
MRI | 10 (62.5) | 0 | <0.001 |
Mammogram | 2 (12.5) | 21 (31.8) | |
Physical exam | 2 (12.5) | 45 (68.2) | |
Prophylactic Mastectomy | 2 (12.5) | 0 | |
T stage | |||
Tis/T1 | 15 (93.8) | 34 (51.5) | 0.008 |
T2-4 | 1 (6.3) | 31 (47.0) | |
Tx | 0 | 1 (1.5) | |
Node negative | 16 (100) | 42 (63.6) | 0.004 |
Stage | |||
0 | 4 (25) | 3 (4.5) | 0.011 |
I - II | 12 (75) | 52 (78.8) | |
III - IV | 0 | 11 (16.7) | |
ER+ | 8 (50) | 34 (51.5) | 0.91 |
PR+ | 7 (43.8) | 32 (48.5) | 0.73 |
Her2+ | 1 (6.3) | 6 (9.1) | 0.73 |
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