Hereditary Cancer Risk Receives Too Little Attention: New Research and Recommendations

Hereditary cancers receive too little attention from patients, physicians and society. A recent study found that more than half of carriers of hereditary breast and ovarian cancer syndrome or Lynch syndrome were unaware of their genetic status.

Hereditary cancers account for approximately 10-15% of all cases. Main reasons for the lack of attention include:

1. Limited awareness,
2. Difficulties accessing genetic testing,
3. Inadequate medical guidelines,
4. Healthcare disparities, and
5. A lack of priority in cancer research.

Knowing hereditary cancer risk creates opportunities for early detection and preventive measures that may stop disease progression. It can also help relatives learn about their own status through testing and support family health management.

This article discusses new research and proposed updates to hereditary cancer risk guidelines.

Proposed Updates to Cancer Risk Guidelines: New Findings and Practice

TAPESTRY, a new study presented on April 18 at the American Association for Cancer Research Annual Meeting, suggests that guidelines for assessing inherited cancer risk need updating. Researchers studied HBOC (hereditary breast and ovarian cancer) and LS (Lynch syndrome) carriers. These two syndromes represent the most commonly encountered hereditary cancers.

More carriers of hereditary breast and ovarian cancer or Lynch syndrome risk genes were identified than would have been detected under current testing guidelines. Researchers suggest reviewing those guidelines.

In TAPESTRY, 44,306 participants from Mayo Clinic centers were identified as likely to carry pathogenic mutations and consented to testing using saliva samples through whole-exome sequencing . Using electronic health records, researchers assessed whether participants met NCCN testing criteria.

Genetic tests such as whole-exome sequencing have become more affordable, contributing to broader and more appropriate use of hereditary cancer testing.

Results

Of the 44 thousand participants, 1.24% were HBOC or LS carriers. Women accounted for 62.8% of HBOC carriers and 62.6% of LS carriers. These findings indicate that current guidelines are inadequate for genetic testing implementation and management.

Median age was 57 in both groups. A cancer history was present in 47.3% of HBOC carriers and 44.2% of LS carriers.

Among HBOC carriers, 49.1% were unaware of their genetic status, compared with 59.3% of LS carriers. Under the relevant NCCN hereditary cancer guidelines, 32% of HBOC carriers and 56.2% of LS carriers would not have been eligible for screening.

MSH6 carriers were especially notable: 63.8%, along with PMS2 gene mutation carriers at 83.7%, did not meet the NCCN testing criteria.

A cancer type unrelated to a genetic syndrome resulted in 58.6% not meeting NCCN guidelines. Another 60.5% did not meet them because too few relatives had a known cancer history, while 63.3% had no personal cancer history. Among individuals with pathogenic mutations who did meet NCCN criteria, 34% were unaware of their status.

These findings suggest underuse of NCCN guidelines in clinical practice, possibly reflecting physicians' busy schedules or the complexity of applying the criteria.

Conclusion

Assessing hereditary cancer risk enables potentially lifesaving early detection and intervention. Updating guidelines and genetic testing practices is therefore important. New research suggests carefully considering sex-related factors and offering testing to a broader patient group. These changes could improve quality of life and survival for HBOC and LS carriers, enabling a more effective response to cancer.