While most pancreatic cancers are sporadic (around 90% of cases with no inherited cause) (Pancreatic Cancer: Family History and Genetics FAQs Part 1 | Columbia University Department of Surgery), a significant minority are indeed linked to inherited genetic factors. Approximately 5–10% of pancreatic cancer cases have an underlying hereditary component caused by gene mutations that increase risk (Pancreatic Cancer Risk Factors | American Cancer Society). Families with a history of pancreatic cancer often harbor specific inherited mutations known to elevate pancreatic cancer risk. Notable examples include:
- BRCA1 & BRCA2 – Mutations in these tumor suppressor genes (best known for hereditary breast and ovarian cancer) also heighten the risk of developing pancreatic cancer (Pancreatic Cancer Risk Factors | American Cancer Society).
- PALB2 – Inherited changes in PALB2 (a gene that works with BRCA2) are associated with higher rates of breast and pancreatic cancers (Pancreatic Cancer Risk Factors | American Cancer Society).
- CDKN2A (p16) – Mutations in this gene cause Familial Atypical Multiple Mole Melanoma syndrome, which predisposes individuals to melanoma and significantly raises pancreatic cancer risk (Pancreatic Cancer Risk Factors | American Cancer Society).
For prospective parents with a known hereditary cancer mutation in the family, each child has a 50% chance of inheriting that variant. This elevated risk leads many carriers to pursue in vitro fertilization (IVF) with preimplantation genetic testing (PGT) to ensure they do not pass on the predisposition . Traditional PGT for monogenic conditions (PGT-M) can screen embryos for a specific known mutation, but it is limited to one gene at a time and requires that the parents know the exact familial mutation in advance (How can Orchid tell me about an embryo’s future risk for cancer?).
Orchid offers an advanced whole-genome embryo screening that addresses these limitations. Instead of examining only a single gene, Orchid’s testing analyzes ~90 genes associated with hereditary cancers simultaneously (How can Orchid tell me about an embryo’s future risk for cancer?). This comprehensive approach can detect high-risk variants in an embryo – including BRCA1, BRCA2, PALB2, CDKN2A, and other pancreatic cancer susceptibility genes – even if the parents were not previously aware they carried them (How can Orchid tell me about an embryo’s future risk for cancer?). By identifying embryos with or without such inherited cancer risk factors, Orchid’s service empowers informed reproductive decision-making. Prospective parents can choose to transfer an embryo that does not carry the familial pancreatic cancer-related mutation, thereby significantly reducing their future child’s genetic risk of pancreatic cancer and other associated cancers. Discussing these concerns with clinicians and genetic counselors can often identify families at risk and allow further testing.