BRCA1/2 germline mutations can greatly increase the risk of breast and ovarian cancer. Tumors with BRCA1/2 germline mutations show a defect in double-strand break repair by homologous recombination repair (Lord & Ashworth 2016). These tumors exhibit increased sensitivity to PARP inhibitors and platinum-based chemotherapy.
Some tumors exhibit signs similar to those that have a BRCA1/2 germline mutation but do not actually have these mutations. Detection of 'BRCAness' could improve patient selection for the same treatments as those who have a BRCA1/2 mutation (Lord & Ashworth 2016, Lim & Ngeow 2016).
BRCA1/2 germline mutations can also be a risk factor for other types of cancer including stomach, pancreas, prostate, and colon (Friedenson 2005). The increased risk ranges from about 20% to 60%, with the greatest increases in risk in stomach and pancreas (Friedenson 2005). Separately, Alexandrov found that 7–12% of gastric cancers have defective double-strand DNA break repair by homologous recombination (Alexandrov 2015). It has been suggested that gastric cancer patients who exhibit BRCAness would respond to PARP inhibitors (Alexandrov 2015).
What we are trying to solve
Expand PARP inhibition therapy to more GI oncology patients who exhibit signs of BRCAness in their tumor genome. To facilitate this, we aim to help oncologists identify tumors that exhibit sufficient 'BRCAness' to warrant consideration for PARP inhibitor treatment.
What we're doing to solve this
We have developed a visualization to show a tumor’s HRD signature, a measure of BRCAness, compared to tumors known to harbor a BRCA1/2 germline mutation. We display a tumor’s BRCAness as a continuum rather than a binary output to give a more nuanced view.
How you can help: Come visit our booth at the GI ASCO meeting!
Test drive our new visualization and give feedback on its clarity and message. We will be handing out chocolate and fun stickers.