Translational Genomics of Triple-Negative Breast Cancer

Triple-negative breast cancer (TNBC) does not respond to receptor targeted treatments because they do not possess the ligands to bind to these receptors. Thus, more research needs to be explored in terms of the translational modifications that genes undergo during this disease.

Summary of Research

Triple-negative breast cancers (TNBCs) present an unresolved clinical dilemma. Many TNBC cases have homologous DNA repair defects associated with BRCA1 or BRCA2 mutations. This homologous recombination deficiency (HRD) is characterized by increases in copy number variations (CNV) and high response rates to DNA damage and repair targeting therapies. The striking resemblance of the CNV data between BRCA1/2 mutant (mt) and subsets of BRCA1/2 wild type (wt) cases suggests that the HRD phenotype can result from mutations in genes other than BRCA1/2. We investigated key genetic alterations targeting DNA repair and assessed their associations with immune checkpoint regulators, PD-1 and PD-L1, in TNBC patients.

Thirteen TNBC samples including 8 HRD-positive cases underwent whole-exome sequencing. Strikingly, 7 of the HRD-positive TNBCs were BRCA wt. We identified non-synonymous mutations in DNA repair genes (e.g. DCLRE1C, BRIP1, CHEK2) in the BRCA wt HRD-positive cases. In contrast, all 5 HRD-negative TNBC patients did not harbor mutations in DNA repair genes. Thus, HRD-positive patients, including BRCA1/2 wt, may be responsive to DNA damage and repair targeting agents. However, there was no correlation with HRD-phenotype and PD- 1/PD-L1 expression. These data will help identify subsets of TNBC patients who may or may not derive benefit from DNA damage and repair targeting therapies and immunotherapy.

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Translational Genomics of Triple-Negative Breast Cancer

Triple-negative breast cancer (TNBC) does not respond to receptor targeted treatments because they do not possess the ligands to bind to these receptors. Thus, more research needs to be explored in terms of the translational modifications that genes undergo during this disease.

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2018 ScienceBuzz Symposium

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We are excited to announce the first annual ScienceBuzz Symposium, dedicated to middle and high school students. The conference and registration is completely free! Currently, the symposium date is June 9, 2018.

Pre-register for the symposium by visiting the conference website or clicking here. There are a limited number of seats and we expect to fill up quickly, so register ASAP. The event will include several internationally-renowned speakers, workshop sessions, company exhibitions, scholarships, and research presentations. 

 

The 2018 ScienceBuzz Symposium is the first, completely free conference exclusively for middle and high school students. Our theme for this year is “One Day of Powerful Talks.”

It will be hosted in Lehigh Valley, Pennsylvania, but will include students from around the state and nearby regions. The event will have national guest keynote speakers (including a Nobel Prize Laureate, the head of a leading scientific institution, college admissions officers, university professors, leaders in gifted education, and top biopharma executives). It will also include workshop sessions, student poster presentations, five research scholarship awards, organizational and company exhibitions, and unique networking opportunities.

To learn more about the symposium, agenda, and logistical details, visit our website at www.sciencebuzz.wixsite.com/symposium

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