Randomized Controlled Trials in Hereditary Cancer Syndromes

Area of Science:

• Oncology
• Genetics
• Clinical Trials

Background:

• Germline mutations predisposing to adult-onset cancers present unique challenges for clinical trial research.
• Rarity of mutations, identification difficulties, and patient recruitment hurdles limit randomized controlled trials (RCTs).
• Existing RCTs are concentrated in a few high-risk genes within three specific hereditary cancer syndromes.

Purpose of the Study:

• To review surgical, screening, and chemoprevention randomized controlled trials.
• Focus on clinically relevant studies conducted within the past 10 years.
• Examine trials across the three major hereditary cancer syndromes with available genetic testing.

Main Methods:

• Systematic literature review of RCTs.
• Focused on studies published in the last decade.
• Included trials related to surgical interventions, cancer screening protocols, and chemoprevention strategies.

Main Results:

• The majority of relevant RCTs are limited to a small number of high-risk genes and specific hereditary cancer syndromes.
• A review of surgical, screening, and chemoprevention RCTs was conducted for these syndromes.
• The past 10 years have seen limited but important RCTs in this field.

Conclusions:

• Conducting RCTs in hereditary cancer syndromes is feasible but faces significant challenges.
• Further research and innovative trial designs are needed to address the rarity of these mutations.
• This review provides an overview of recent trial progress in key hereditary cancer syndromes.