Overview
Hereditary nonpolyposis colon cancer (HNPCC), also widely known as Lynch syndrome, is an inherited condition that significantly raises a person's risk of developing certain cancers — most commonly colorectal (colon and rectal) cancer, but also cancers of the uterus (endometrium), ovaries, stomach, small intestine, urinary tract, bile ducts, and brain. Unlike some other inherited colon cancer syndromes, HNPCC does not typically cause large numbers of polyps (growths) in the colon, which is why it is called 'nonpolyposis.' The condition is caused by inherited changes (mutations) in genes that normally help repair mistakes in DNA. When these repair genes do not work properly, errors build up in cells over time, which can lead to cancer. People with HNPCC may not have any symptoms until a cancer develops. When colorectal cancer does occur, symptoms can include changes in bowel habits, blood in the stool, abdominal pain, unexplained weight loss, and fatigue. Women with HNPCC also face a high lifetime risk of uterine cancer, which may cause abnormal vaginal bleeding. The good news is that with regular screening and surveillance — such as colonoscopies starting at a young age — cancers can often be caught early or even prevented. Preventive surgeries are also an option for some people. Genetic counseling and testing are key parts of managing this condition for both patients and their family members.
Also known as:
Key symptoms:
Changes in bowel habits (diarrhea, constipation, or narrowing of stool) lasting more than a few daysBlood in the stool or rectal bleedingPersistent abdominal cramping or painUnexplained weight lossFeeling that the bowel does not empty completelyUnusual tiredness or fatigueAbnormal vaginal bleeding or bleeding between periods (in women, may signal uterine cancer)Pelvic pain (in women)Nausea or vomiting that does not go awayUrinary symptoms such as blood in the urine (if urinary tract cancer develops)Jaundice or yellowing of the skin (if bile duct cancer develops)
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
10 eventsRadboud University Medical Center — PHASE1, PHASE2
UNICANCER — NA
UNC Lineberger Comprehensive Cancer Center — NA
Region Skane
Centre Hospitalier Universitaire de Nīmes — NA
Fundacion Clinic per a la Recerca Biomédica — PHASE1
Izmir Ataturk Training and Research Hospital
Nimbus Wadjet, Inc. — PHASE1, PHASE2
University of Medicine and Pharmacy at Ho Chi Minh City
Sun Yat-sen University
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
9 availableLONSURF
LONSURF, as a single agent or in combination with bevacizumab, is indicated for the treatment of adult patients with metastatic colorectal cancer previously treated with fluoropyrimidine-, oxaliplatin…
LONSURF, as a single agent or in combination with bevacizumab, is indicated for the treatment of adult patients with metastatic colorectal cancer previously treated with fluoropyrimidine-, oxaliplatin- and irinotecan-based chemotherapy, an anti-VEGF biological therapy, and if RAS wild-type, an anti-EGFR therapy.
Braftovi
in combination with cetuximab and fluorouracil-based chemotherapy, for the treatment of adult patients with metastatic colorectal cancer (mCRC) with a BRAF V600E mutation, as detected by an FDA-author…
in combination with cetuximab and fluorouracil-based chemotherapy, for the treatment of adult patients with metastatic colorectal cancer (mCRC) with a BRAF V600E mutation, as detected by an FDA-authorized test
Avastin
Avastin is a vascular endothelial growth factor inhibitor indicated for the treatment of: Metastatic colorectal cancer, in combination with intravenous fluorouracil-based chemotherapy for first- or se…
Avastin is a vascular endothelial growth factor inhibitor indicated for the treatment of: Metastatic colorectal cancer, in combination with intravenous fluorouracil-based chemotherapy for first- or second-line treatment.
Stivarga
indicated for the treatment of adult patients with metastatic colorectal cancer (CRC) who have been previously treated with fluoropyrimidine-, oxaliplatin- and irinotecan-based chemotherapy, an anti-V…
indicated for the treatment of adult patients with metastatic colorectal cancer (CRC) who have been previously treated with fluoropyrimidine-, oxaliplatin- and irinotecan-based chemotherapy, an anti-VEGF therapy, and, if RAS wild-type, an anti-EGFR therapy
Tukysa
in combination with trastuzumab for the treatment of adult patients with RAS wild-type HER2-positive unresectable or metastatic colorectal cancer that has progressed following treatment with fluoropyr…
in combination with trastuzumab for the treatment of adult patients with RAS wild-type HER2-positive unresectable or metastatic colorectal cancer that has progressed following treatment with fluoropyrimidine-, oxaliplatin-, and irinotecan-based chemotherapy
CYRAMZA
in combination with FOLFIRI, for the treatment of adults with metastatic colorectal cancer with disease progression on or after prior therapy with bevacizumab, oxaliplatin, and a fluoropyrimidine
Erbitux
in combination with encorafenib, for the treatment of adult patients with metastatic colorectal cancer (CRC) with a BRAF V600E mutation, as detected by an FDA-approved test, after prior therapy
Fusilev
treatment of adults with metastatic colorectal cancer in combination with fluorouracil
Lumakras
in combination with panitumumab, for the treatment of adult patients with KRAS G12C-mutated metastatic colorectal cancer (mCRC), as determined by an FDA-approved test, who have received prior fluoropy…
in combination with panitumumab, for the treatment of adult patients with KRAS G12C-mutated metastatic colorectal cancer (mCRC), as determined by an FDA-approved test, who have received prior fluoropyrimidine-, oxaliplatin- and irinotecan-based chemotherapy
Rare Disease Specialist
Rare Disease Specialist
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
Financial Resources
8 resourcesQfitlia
Takeda Pharmaceuticals
Metastatic Colorectal Cancer
Travel Grants
No travel grants are currently matched to Hereditary nonpolyposis colon cancer.
Community
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Start the conversation →Latest news about Hereditary nonpolyposis colon cancer
Disease timeline:
New recruiting trial: How Epigenetic Changes in hMLH1 Connect Lab Research With Diagnosis in Gastric Cancer
A new clinical trial is recruiting patients for Hereditary nonpolyposis colon cancer
New recruiting trial: First in Human Pilot Study to Assess the Safety and Efficacy of Dendritic Cells Loaded With Frameshift Derived Neopeptides for the Prevention of Cancer in of Lynch Syndrome Carriers
A new clinical trial is recruiting patients for Hereditary nonpolyposis colon cancer
New recruiting trial: Provider-Mediated Communication of Genetic Testing Results to At-Risk Relatives of Cancer Patients to Improve Genetic Counseling and Testing Rates, Family HOPE Study
A new clinical trial is recruiting patients for Hereditary nonpolyposis colon cancer
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 gene mutation do I have, and what does that mean for my specific cancer risks?,What screening tests do I need, and how often should I have them?,Should I consider preventive surgery, and what are the pros and cons for my situation?,Should my children, siblings, and parents be tested for this condition?,Are there any medications or lifestyle changes that can lower my cancer risk?,What signs or symptoms should prompt me to seek medical attention right away?,Are there clinical trials I should know about for Lynch syndrome prevention or treatment?
Common questions about Hereditary nonpolyposis colon cancer
What is Hereditary nonpolyposis colon cancer?
Hereditary nonpolyposis colon cancer (HNPCC), also widely known as Lynch syndrome, is an inherited condition that significantly raises a person's risk of developing certain cancers — most commonly colorectal (colon and rectal) cancer, but also cancers of the uterus (endometrium), ovaries, stomach, small intestine, urinary tract, bile ducts, and brain. Unlike some other inherited colon cancer syndromes, HNPCC does not typically cause large numbers of polyps (growths) in the colon, which is why it is called 'nonpolyposis.' The condition is caused by inherited changes (mutations) in genes that no
How is Hereditary nonpolyposis colon cancer inherited?
Hereditary nonpolyposis colon cancer follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hereditary nonpolyposis colon cancer typically begin?
Typical onset of Hereditary nonpolyposis colon cancer is adult. Age of onset can vary across affected individuals.
Are there clinical trials for Hereditary nonpolyposis colon cancer?
Yes — 10 recruiting clinical trials are currently listed for Hereditary nonpolyposis colon cancer on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Hereditary nonpolyposis colon cancer?
25 specialists and care centers treating Hereditary nonpolyposis colon cancer are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Hereditary nonpolyposis colon cancer?
1 patient support program are currently tracked on UniteRare for Hereditary nonpolyposis colon cancer. See the treatments and support programs sections for copay assistance, eligibility, and contact details.