Overview
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare and serious genetic condition that occurs when a child inherits two faulty copies of the BRCA2 gene — one from each parent. This condition is also known as Fanconi anemia complementation group D1 (FA-D1) or biallelic BRCA2-related Fanconi anemia. While people who carry just one faulty BRCA2 copy have an increased risk of breast and ovarian cancer as adults, children who inherit two faulty copies face a much more severe situation that typically begins in early childhood. The BRCA2 gene plays a critical role in repairing damaged DNA. When both copies are not working, cells cannot fix their DNA properly, leading to bone marrow failure (aplastic anemia), a very high risk of childhood cancers — especially brain tumors (particularly medulloblastoma), Wilms tumor (a kidney cancer), and acute myeloid leukemia — and sometimes birth defects such as short stature, abnormal thumbs, skin pigmentation changes, and other physical differences commonly seen in Fanconi anemia. Treatment is complex and requires a multidisciplinary team. It may include blood transfusions and growth factors for bone marrow failure, chemotherapy or surgery for cancers, and potentially hematopoietic stem cell transplantation (bone marrow transplant) for severe blood problems. Unfortunately, standard cancer treatments can be more toxic in these patients because their cells are already unable to repair DNA damage well. Careful dose adjustments and close surveillance are essential. The prognosis is often guarded, making early diagnosis and specialized care critically important.
Key symptoms:
Low blood counts (anemia, low white blood cells, low platelets)Easy bruising or bleedingFrequent infectionsExtreme tiredness and fatigueShort stature or poor growthAbnormal thumbs or forearmsPatches of darker or lighter skin (café-au-lait spots or hypopigmentation)Small head size (microcephaly)Childhood brain tumorsKidney tumors (Wilms tumor)Leukemia (blood cancer)Developmental delays in some casesKidney or urinary tract abnormalitiesHearing problemsFeeding difficulties in infancy
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
1 eventLUXTURNA: FDA approved
an adeno-associated virus vector-based gene therapy indicated for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy. Patients must have viable retinal cells determined by a treating physician
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations.
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Specialists
View all specialists →No specialists are currently listed for Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations.
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 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations.
Community
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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.What specific BRCA2 mutations does my child have, and what does this mean for their cancer risk?,How often should my child have blood counts checked and cancer screening tests?,What are the signs and symptoms I should watch for at home that need immediate medical attention?,Is a bone marrow transplant recommended for my child, and when would be the best timing?,How will cancer treatments be adjusted given my child's sensitivity to DNA-damaging therapies?,Are there any clinical trials or new therapies available for this condition?,What does this diagnosis mean for other family members, and should siblings and parents be tested?
Common questions about Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
What is Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations?
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare and serious genetic condition that occurs when a child inherits two faulty copies of the BRCA2 gene — one from each parent. This condition is also known as Fanconi anemia complementation group D1 (FA-D1) or biallelic BRCA2-related Fanconi anemia. While people who carry just one faulty BRCA2 copy have an increased risk of breast and ovarian cancer as adults, children who inherit two faulty copies face a much more severe situation that typically begins in early childhood. The BRCA2 gene plays a critical role in re
How is Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations inherited?
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations typically begin?
Typical onset of Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is childhood. Age of onset can vary across affected individuals.