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Updated: May 10, 2026
08:16
Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
Tumour morphology predicts PALB2 germline mutation status.
Z L Teo1, E Provenzano, G S Dite
1Genetic Epidemiology Laboratory, The University of Melbourne, Melbourne, Victoria 3010, Australia.
British Journal of Cancer
|June 22, 2013
Summary
Minimal sclerosis in breast tumors can predict the presence of pathogenic PALB2 mutations, aiding in the identification of women who may benefit from targeted cancer risk management and therapies.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Pathogenic variants in PALB2 are associated with increased breast cancer risk.
- Identifying PALB2 mutation carriers is crucial for personalized cancer risk management and treatment strategies.
Purpose of the Study:
- To investigate if specific breast tumor morphological features can predict germline PALB2 mutation status.
Main Methods:
- A systematic pathology review of breast tumors from 28 female PALB2 mutation carriers and 828 women in a population-based sample was performed.
- Tumor morphology of PALB2 carriers was compared to that of 770 women without high-risk mutations.
Main Results:
- Breast tumors in PALB2 mutation carriers showed a significant association with minimal sclerosis (OR=19.7, P=5 × 10⁻⁷).
- Minimal sclerosis also differentiated PALB2 carriers from BRCA1 and BRCA2 mutation carriers (P=0.05 and P=0.04, respectively).
Conclusions:
- Minimal sclerosis is a significant histopathological predictor of germline PALB2 mutation status.
- Morphological assessment of breast tumors can help identify women likely to carry PALB2 mutations, facilitating genetic counseling and management.
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