Impact of prior knowledge of mutation status on tumor stage in BRCA1/2 mutation carriers with newly diagnosed breast cancer.

Authors

null

Clinton Yam

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

Organizations

Basser Research Center for BRCA at the Abramson Cancer Center of the University of Pennsylvania, Philadelphia, PA, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, University of Pennsylvania, Philadelphia, PA

Research Funding

No funding sources reported

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.

Summary of findings.

Known at
diagnosis
(n = 16)
Unknown at
diagnosis
(n = 66)
p value
Years (range)
Median age40 (25 - 70)42.5 (28 - 74)0.87
Number (%)
BRCA
BRCA111 (68.8)33 (50)0.18
BRCA25 (31.3)33 (50)
Method of diagnosis
MRI10 (62.5)0<0.001
Mammogram2 (12.5)21 (31.8)
Physical exam2 (12.5)45 (68.2)
Prophylactic Mastectomy2 (12.5)0
T stage
Tis/T115 (93.8)34 (51.5)0.008
T2-41 (6.3)31 (47.0)
Tx01 (1.5)
Node negative16 (100)42 (63.6)0.004
Stage
04 (25)3 (4.5)0.011
I - II12 (75)52 (78.8)
III - IV011 (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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Abstract Details

Meeting

2015 ASCO Annual Meeting

Session Type

Poster Session

Session Title

Cancer Prevention, Genetics, and Epidemiology

Track

Prevention, Risk Reduction, and Genetics

Sub Track

Cancer Prevention

Citation

J Clin Oncol 33, 2015 (suppl; abstr 1562)

DOI

10.1200/jco.2015.33.15_suppl.1562

Abstract #

1562

Poster Bd #

386

Abstract Disclosures

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