Clinicopathological Features and Oncological Outcomes of Germline Partner and Localizer of Breast Cancer 2-Mutated Breast Cancer in Korea.

Purpose: The partner and localizer of breast cancer 2 (PALB2) mutation is a predisposition to breast cancer development. However, limited clinical data are available for the Korean population. Therefore, this study aimed to compare the characteristics and oncological outcomes of patients with PALB2-mutated and non-mutated PALB2 in Korea.

Methods: A total of 1,463 breast cancer (BRCA) 1/2 mutation-negative breast cancer underwent comprehensive multigene sequencing between 2016 and 2019 at Severance Hospital, Seoul, Korea. Clinicopathological data and oncological results of PALB2 mutated patients were prospectively collected and compared with those of the non-mutated group.

Results: PALB2 mutations were identified in 1.2% (17/1,463) of the patients. The median age at diagnosis was 46 (30-73) years, and the median tumor size was 1.8 (0.05-3.5) cm. All patients with PALB2 mutations had histologic grades II-III, and a triple-negative subtype was found in 23.5% (4/17); however, there were no significant differences in clinicopathological data between the groups. During the median follow-up time of 38.5 months, locoregional recurrence occurred in 4.2% (44/1,043), distant recurrence was reported in 3.0% (31/1,043), and contralateral breast cancer was diagnosed in 0.8% (9/1,043) of patients, with no significant difference observed between the groups. All-cause mortality was observed in 1.8% (19/1,028) of the non-mutated group and none in the PALB2 mutation group. However, survival analyses demonstrated no significant differences in all-cause mortality ( = 0.524) and recurrence-free survival ( = 0.319).

Conclusion: Clinicopathological features and oncological outcomes of PALB2 mutated breast cancer were not significantly different from those of non-mutated breast cancer in the Korean population.