Overview
Polymerase proofreading-related polyposis (also called PPAP, or polymerase proofreading-associated polyposis) is a rare inherited condition that causes multiple polyps — small growths — to form in the colon and rectum. These polyps are not normal and carry a high risk of turning into colorectal cancer if not caught and treated early. The condition is caused by changes (mutations) in genes that normally help copy DNA accurately. When these proofreading genes do not work properly, errors build up in DNA over time, which can lead to polyps and cancer. People with PPAP may develop anywhere from a few to dozens of polyps, usually starting in adulthood. Beyond colorectal cancer, there is also an increased risk of cancers in other parts of the body, including the lining of the uterus (endometrial cancer), brain tumors, and other gastrointestinal cancers. Some people also develop polyps in the stomach or small intestine. Treatment focuses on close surveillance with regular colonoscopies to find and remove polyps before they become cancerous. In some cases, surgery to remove part or all of the colon may be recommended. Genetic counseling is an important part of care, since this condition runs in families and first-degree relatives should be tested. With careful monitoring and early intervention, many people with PPAP can significantly reduce their cancer risk.
Key symptoms:
Multiple polyps in the colon and rectumColorectal cancer, often at a younger age than usualPolyps in the stomach or small intestineEndometrial (uterine lining) cancerBrain tumors (including glioblastoma)Rectal bleeding or blood in the stoolChanges in bowel habits such as diarrhea or constipationAbdominal pain or crampingUnexplained weight lossFatigue related to anemia from intestinal bleeding
Clinical phenotype terms (7)
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
FDA & Trial Timeline
3 eventsIndiana University — NA
Senthil Sadhasivam — NA
Senthil Sadhasivam — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Polymerase proofreading-related polyposis.
3 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Polymerase proofreading-related polyposis.
Community
No community posts yet. Be the first to share your experience with Polymerase proofreading-related polyposis.
Start the conversation →Latest news about Polymerase proofreading-related polyposis
Disease timeline:
New recruiting trial: Personalized Perioperative Analgesia Platform (PPAP) for Pediatric Spine Fusion Surgery (sIRB)
A new clinical trial is recruiting patients for Polymerase proofreading-related polyposis
New recruiting trial: Personalized Perioperative Analgesia Platform (PPAP) for Cesarean Section
A new clinical trial is recruiting patients for Polymerase proofreading-related polyposis
New recruiting trial: Utility of Trypsinogen -2 in Early Detection and Follow Up of Post-pancreatectomy Acute Pancreatitis (PPAP)
A new clinical trial is recruiting patients for Polymerase proofreading-related polyposis
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific gene mutation do I have, and what does that mean for my personal cancer risk?,How often should I have colonoscopies, and are there other cancer screenings I need?,Should my children, siblings, or parents be tested for this condition?,At what point would you recommend surgery to remove part or all of my colon?,Are there any clinical trials I should know about for PPAP or related conditions?,What signs or symptoms should prompt me to seek urgent medical care?,Should I see a gynecologic oncologist for uterine cancer screening as well?
Common questions about Polymerase proofreading-related polyposis
What is Polymerase proofreading-related polyposis?
Polymerase proofreading-related polyposis (also called PPAP, or polymerase proofreading-associated polyposis) is a rare inherited condition that causes multiple polyps — small growths — to form in the colon and rectum. These polyps are not normal and carry a high risk of turning into colorectal cancer if not caught and treated early. The condition is caused by changes (mutations) in genes that normally help copy DNA accurately. When these proofreading genes do not work properly, errors build up in DNA over time, which can lead to polyps and cancer. People with PPAP may develop anywhere from a
How is Polymerase proofreading-related polyposis inherited?
Polymerase proofreading-related polyposis follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Polymerase proofreading-related polyposis typically begin?
Typical onset of Polymerase proofreading-related polyposis is adult. Age of onset can vary across affected individuals.
Are there clinical trials for Polymerase proofreading-related polyposis?
Yes — 3 recruiting clinical trials are currently listed for Polymerase proofreading-related polyposis on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Polymerase proofreading-related polyposis?
1 specialists and care centers treating Polymerase proofreading-related polyposis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.