Siddhartha Yadav, Associate Professor of Oncology and Consultant Medical Oncologist at the Mayo Clinic, shared on LinkedIn:
“Are hereditary breast cancers biologically distinct from other breast cancers?
In an analysis of nearly 5,000 breast cancers published in JNCI, we found striking differences in tumor biology associated with inherited pathogenic variants.
- Among hormone receptor positive breast cancers, 45% of BRCA1-associated tumors were basal subtype, compared with 11% of sporadic tumors, raising concerns about endocrine sensitivity.
- BRCA1 associated tumors had substantially more TP53 alterations, while these alterations were rare in CHEK2- and ATM-associated tumors. PIK3CA mutations were less common in BRCA2-associated tumors.
These findings highlight the distinct impact of germline pathogenic variants on tumor biology. The next step is to translate these insights into more personalized treatment strategies for hereditary breast cancers.
Grateful to our outstanding collaborators and colleagues who made this work possible.”
Title: Landscape of somatic genetic alterations and PAM50 intrinsic subtypes in breast cancer associated with germline pathogenic variants in DNA-repair genes
Authors: Siddhartha Yadav, Sonya Reid, Binyam Yilma, Stamatina Fragkogianni, Jennifer G Whisenant, Anne Weidner, Padma Sheila Rajagopal, Minxuan Huang, Elizabeth Mauer, Ali T Arafa, Calvin Chao, Emily A Teslow, Emmanuel S Antonarakis, Allison Kurian, Fergus J Couch, Tuya Pal
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