Clinical characteristics.

Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Characteristic physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: growth deficiency, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, genitourinary tract anomalies, and ocular manifestations. Endocrine disorders (hypothyroidism, diabetes / impaired glucose tolerance), hearing loss, developmental delay, congenital heart defects, and gastrointestinal malformations are also more common in those with FA. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) is 35% by age 40 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.

Diagnosis/testing.

The diagnosis of FA is established in a proband with increased chromosome breakage and radial forms on cytogenetic testing of lymphocytes with diepoxybutane (DEB) and mitomycin C (MMC) and/or one of the following identified on molecular genetic testing: biallelic pathogenic variants in one of the 21 genes known to cause autosomal recessive FA; a heterozygous pathogenic variant in RAD51 known to cause autosomal dominant FA; or a hemizygous pathogenic variant in FANCB known to cause X-linked FA.

Management.

Targeted therapies: Oral androgens (e.g., oxymetholone, danazol) may transiently improve red blood cell and platelet counts in approximately 50% of individuals with FA. Granulocyte colony-stimulating factor improves the neutrophil count in some individuals. Hematopoietic stem cell transplantation (HSCT) is the only curative therapy for the hematologic manifestations of FA, but the non-hematologic manifestations remain, including a high risk for solid tumors, which may be increased following HSCT. All these therapies have potential significant toxicity.

Treatment of manifestations: Treatment of growth deficiency, limb anomalies, other orthopedic manifestations, kidney malformations, genital anomalies, hypothyroidism, diabetes, ocular anomalies, hearing loss, and cardiac anomalies as recommended by the subspecialty care provider. Early intervention for developmental delays; individualized education plan for school-age children; speech, occupational, and physical therapy as needed. Supplemental feeding as needed by nasogastric tube or gastrostomy tube. Treatment of bone marrow failure / MDS / AML through a center with experience in FA; early detection and surgical removal for solid tumors; human papilloma virus vaccination to reduce the risk for gynecologic cancer in females and reduce the risk of oral cancer in all individuals; liberal use of sunscreen and rash guards; treatment of skin cancer per dermatologist in coordination with multidisciplinary experts in FA; social work and care coordination as needed.

Surveillance: Clinical assessment of growth, feeding, nutrition, spine, and ocular issues at each visit throughout childhood. Annual ophthalmology examination; assessment of pubertal stage and hormone levels at puberty and every two years until puberty is complete; annual evaluation with endocrinologist including TSH, free T4, 25-hydroxyvitamin D, two-hour glucose tolerance testing, and measurement of insulin concentration; follow-up hearing evaluation if exposed to ototoxic drugs; annual developmental assessment throughout childhood; blood counts every three to four months or as needed; bone marrow aspirate and biopsy to evaluate morphology and cellularity; FISH and cytogenetics to evaluate for emergence of a malignant clone at least annually after age two years; liver function tests every three to six months and liver ultrasound every six to twelve months in those receiving androgen therapy; gynecologic assessment for genital lesions annually beginning at age 13 years; vulvo-vaginal examinations and Pap smear annually beginning at age 18 years or with onset of sexual activity; oral examinations for tumors every six months beginning at age nine to ten years; annual nasolaryngoscopy beginning at age ten years; dermatology evaluation every six to 12 months; annual abdominal ultrasound and brain MRI in those with BRCA2-related FA. Additional cancer surveillance for individuals with BRCA1-, BRCA2-, BRIP1-, PALB2-, and RAD51C-related FA per National Comprehensive Cancer Network (NCCN) screening guidelines.

Agents/circumstances to avoid: Transfusions of red blood cells or platelets for persons who are candidates for HSCT; family members as blood donors if HSCT is being considered; blood products that are not filtered (leuko-depleted) or irradiated; toxic agents that have been implicated in tumorigenesis; excessive sun exposure; unsafe sex practices, which increase the risk of HPV-associated malignancy. Radiographic studies solely for the purpose of surveillance (i.e., in the absence of clinical indications) should be minimized.

Evaluation of relatives at risk: Molecular genetic testing (if the family-specific pathogenic variant[s] are known) or DEB/MMC cytogenetic testing of all sibs of a proband (and all at-risk family members of an individual with autosomal dominant [RAD51-related] or X-linked [FANCB-related] FA) for early diagnosis, treatment, and monitoring for physical abnormalities, bone marrow failure, and related cancers.

Genetic counseling.

FA is inherited in an autosomal recessive manner, an autosomal dominant manner (RAD51-related FA), or an X-linked manner (FANCB-related FA).

Autosomal recessive FA: If both parents are known to be heterozygous for an autosomal recessive FA-related pathogenic variant, each sib of an affected individual has at conception a 25% chance of inheriting both pathogenic variants and being affected, a 50% chance of inheriting one pathogenic variant and being heterozygous, and a 25% chance of inheriting neither of the familial FA-related pathogenic variants. Heterozygotes are not at risk for autosomal recessive FA. However, heterozygous pathogenic variants in a subset of FA-related genes (e.g., BRCA1, BRCA2, PALB2, BRIP1, and RAD51C) are associated with an increased risk for breast and other cancers. Heterozygote testing for at-risk relatives requires prior identification of the FA-related pathogenic variants in the family.

Autosomal dominant FA: Given that all probands with RAD51-related FA reported to date whose parents have undergone molecular genetic testing have the disorder as a result of a de novo RAD51 pathogenic variant, the risk to other family members is presumed to be low.

X-linked FA: The risk to sibs of a male proband depends on the genetic status of the mother. If the mother of the proband has a FANCB pathogenic variant, the chance of the mother transmitting it in each pregnancy is 50%. Male sibs who inherit the pathogenic variant will be affected. Female sibs who inherit the pathogenic variant will be heterozygotes and will usually not be affected. Heterozygote testing for at-risk female relatives requires prior identification of the FANCB pathogenic variant in the family.

Molecular genetic prenatal testing and preimplantation genetic testing are possible if the pathogenic variant(s) in the family are known.

Suggestive Findings

FA should be suspected in individuals with the following clinical, laboratory, and pathology findings and/or family history.

Clinical findings (in ~75% of affected persons)

• Prenatal and/or postnatal short stature
• Abnormal skin pigmentation (e.g., café au lait macules, hypopigmentation)
• Skeletal malformations (e.g., hypoplastic thumb, hypoplastic radius)
• Microcephaly
• Genitourinary tract anomalies
• Ocular manifestations
• Otic anomalies / hearing loss

Note: A VACTERL-H (vertebral, anal, cardiac, tracheoesophageal fistula, renal, limb anomalies, hydrocephalus) phenotype is reported in 12% of individuals with FA; a PHENOS (skin pigmentation, small head, small eyes, nervous system, otic anomalies, short stature) phenotype is reported in 9% of individuals with FA [Fiesco-Roa et al 2019].

Laboratory findings

• Macrocytosis
• Increased fetal hemoglobin (often precedes anemia)
• Cytopenia (especially thrombocytopenia, leukopenia, and neutropenia)

Pathology findings

• Progressive bone marrow failure
• Adult-onset aplastic anemia
• Myelodysplastic syndrome (MDS)
• Acute myelogenous leukemia (AML)
• Early-onset solid tumors (e.g., squamous cell carcinomas of the head and neck, esophagus, and vulva; cervical cancer; liver tumors)
• Inordinate toxicities from chemotherapy or radiation

Family history may be consistent with autosomal recessive inheritance (e.g., affected sibs and/or parental consanguinity), de novo RAD51 pathogenic variants, or X-linked inheritance (FANCB-FA). Absence of a known family history does not preclude the diagnosis.

Establishing the Diagnosis

The diagnosis of FA is established in a proband with either of the following:

• Increased chromosome breakage and radial forms on cytogenetic testing of lymphocytes with diepoxybutane (DEB) and mitomycin C (MMC) consistent with FA
  Note: (1) The background rate of chromosome breakage in control chromosomes is more variable with MMC; thus, some centers use DEB while other centers use both DEB and MMC. (2) If results of lymphocyte testing are normal or inconclusive and mosaicism is suspected, testing can be performed on an alternative cell type, such as skin fibroblasts (see Fanconi Anemia Clinical Care Guidelines).
• Identification of biallelic pathogenic (or likely pathogenic) variants in one of the 21 genes known to cause autosomal recessive FA; a heterozygous pathogenic (or likely pathogenic) variant in RAD51 known to cause autosomal dominant FA; or a hemizygous pathogenic (or likely pathogenic) variant in FANCB known to cause X-linked FA (See Table 1.)

Note: (1) Per American College of Medical Genetics and Genomics / Association for Molecular Pathology variant interpretation guidelines, the terms "pathogenic variant" and "likely pathogenic variant" are synonymous in a clinical setting, meaning that both are considered diagnostic and can be used for clinical decision making [Richards et al 2015]. Reference to "pathogenic variants" in this GeneReview is understood to include likely pathogenic variants. (2) The identification of variant(s) of uncertain significance cannot be used to confirm or rule out the diagnosis.

Molecular genetic testing approaches can include a combination of gene-targeted testing (single gene testing, multigene panel) and comprehensive genomic testing (exome sequencing, genome sequencing). Gene-targeted testing requires that the clinician determine which gene(s) are likely involved (see Option 1), whereas comprehensive genomic testing does not (see Option 2).

Clinical Description

The primary clinical features of Fanconi anemia (FA) include physical abnormalities, progressive bone marrow failure manifest as pancytopenia, and cancer susceptibility; however, some individuals with FA have neither physical abnormalities nor bone marrow failure.

Phenotype Correlations by Gene

BRCA2 pathogenic variants cause a near-universal risk of malignancy in early childhood (97% by age six years). Acute leukemia, often but not always AML, occurs in 80% by age ten years [Alter 2014]. Solid tumors of embryonic origin, including brain tumors, Wilms tumor, and neuroblastoma, are also common in individuals with BRCA2-related FA (affecting 10%-33%) and arise typically before age five years [Rosenberg et al 2003, Rosenberg et al 2005, Alter et al 2018, McReynolds et al 2021].

FANCB pathogenic variants have been shown to predominantly cause early-onset bone marrow failure (over myeloid malignancy) [Jung et al 2020].

PALB2 encodes an essential protein partner for BRCA2 as it interfaces with DNA. PALB2-related FA is associated with the same malignancy risks and early age of occurrence as BRCA2-related FA [McReynolds et al 2021].

RAD51. Most individuals (4/5) with RAD51-related FA are reported to have variable developmental delay, including speech and language delays, motor delays, and intellectual disability (mild to severe) [Altintas et al 2025].

Genotype-Phenotype Correlations

The clinical spectrum of FA remains heterogenous, though some genotype-phenotype correlations have been identified. In general, null variants lead to a more severe phenotype (e.g., congenital anomalies, early-onset bone marrow failure, and MDS/AML) than hypomorphic variants. A review of genotype-phenotype associations in FA is available [Fiesco-Roa et al 2019].

BRCA2. Specific splice site variants in intron 7 (e.g., c.631+1G>A and c.631+2T>G) offer the greatest risk of AML, with all homozygotes and compound heterozygotes developing AML by age three years [Alter 2006, Alter 2014].

FANCA. Conflicting reports have associated [Faivre et al 2000] and refuted association [Castella et al 2011] of homozygous FANCA null pathogenic variants with earlier-onset anemia and higher incidence of leukemia than individuals with pathogenic variants that permit production of an abnormal FANCA protein. Other FANCA variants (p.His913Pro, p.Arg951Gln, p.Arg951Trp) have been associated with slower hematologic disease progression [Bottega et al 2018]. In an effort to elucidate the impact of specific pathogenic variants, the NCI group identified a higher frequency of solid tumors in individuals with FANCA pathogenic variants in the exon 27-30 C-terminal domain. This region is functionally critical for localization of FANCA to the nucleus. In their cohort, individuals with heterozygous or biallelic pathogenic variants in exon 27-30 of FANCA had a dramatic increase in solid tumor incidence starting around age 20 years and reaching nearly 100% by age 45 years (compared to 25%-50% solid tumor incidence in individuals with other FANCA pathogenic variants) [Altintas et al 2023].

FANCB. Approximately 80% of males with truncating/null FANCB pathogenic variants present with a VACTERL-H (vertebral, anal, cardiac, tracheoesophageal fistula, renal, limb anomalies, hydrocephalus) phenotype, resulting in FANCB-related FA having the highest rate of congenital anomalies. A PHENOS (skin pigmentation, small head, small eyes, nervous system, otic anomalies, short stature) phenotype is apparent in an additional ~5% of males with a null FANCB pathogenic variant [Fiesco-Roa et al 2019]. Research studies of specific FANCB pathogenic variants revealed that pathogenic variants resulting in protein truncation are associated with more severe clinical disease than FANCB missense pathogenic variants, which maintain residual activity and function [Jung et al 2020].

FANCC. Bone marrow failure in FANCC-related FA has been identified as having higher incidence at earlier ages compared to FANCA- or FANCG-related FA in US data, but with a less severe phenotype in a European report [Faivre et al 2000, Rosenberg et al 2008, Yabe et al 2019, Alter et al 2022]. Perhaps such differences are variant specific, with more severe disease caused by some (c.456+4A>T, p.Arg548Ter, and p.Leu554Pro) [Faivre et al 2005] and less severe disease caused by others (c.165+1G>T) [Hartmann et al 2010]. Further genetic modifiers may influence phenotypes among individuals of different ethnicities (e.g., milder phenotype was reported among Japanese individuals homozygous for FANCC pathogenic variant c.456+4A>T) [Futaki et al 2000].

Prevalence

FA is the most common genetic cause of aplastic anemia and one of the most common genetic causes of hematologic malignancy. The ratio of males to females is 1.2:1 (P <0.001 vs expected 1.00).

Rosenberg et al [2011] showed higher carrier rates for pathogenic variants associated with FA than previously reported. Carrier frequency was 1:181 in North Americans and 1:93 in Israel. Specific populations have founder variants with increased carrier frequencies (<1:100) (see Table 11):

• Afrikaners (FANCA) [Tipping et al 2001]
• Amish (FANCE) [Scott et al 2025]
• Ashkenazi Jews (BRCA2, FANCC) [Verlander et al 1994, Verlander et al 1995, Kutler & Auerbach 2004]
• South Asians (FANCL) [Donovan et al 2020]
• Japanese (FANCC, FANCG) [Joenje 1996, Futaki et al 2000, Yagasaki et al 2003, de Vries et al 2012, García-de Teresa et al 2019]
• Mennonite population that traveled from Germany and the Netherlands, across Canada and to Mexico (FANCC c.67delG)
• Moroccan Israeli Jews (FANCA) [Tamary et al 2000]
• Saudi (FANCC) [Hartmann et al 2010]
• Spanish Romani (FANCA) [Callén et al 2005]
• Sub-Saharan Blacks (FANCG) [Morgan et al 2005]

Evaluations Following Initial Diagnosis

To establish the extent of disease and management requirements in an individual diagnosed with FA, the evaluations summarized in Table 6 (if not performed as part of the evaluation that led to the diagnosis) are recommended (see Fanconi Anemia Clinical Care Guidelines).

Treatment of Manifestations

Recommendations for treatment were agreed upon at a 2014 consensus conference and updated in 2020 (see Fanconi Anemia Clinical Care Guidelines).

Surveillance

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in Table 9 are recommended (see Fanconi Anemia Clinical Care Guidelines).

Additional cancer surveillance for individuals with Fanconi anemia. Some of the genes associated with FA are known breast cancer susceptibility genes: BRCA1, BRCA2, BRIP1, PALB2, and RAD51C. Individuals who have FA due to pathogenic variants in one of these genes should follow the National Comprehensive Cancer Network (NCCN) screening guidelines that have been developed for individuals with a heterozygous pathogenic variant in one of these genes. This should be done under the care of a genetic health care professional. To date, the risk of breast cancer has not been established in individuals with FA due to biallelic pathogenic variants in these genes, and no additional recommendations have been determined for breast cancer screening.

Agents/Circumstances to Avoid

Blood transfusions. Blood products should be cytomegalovirus (CMV) safe and irradiated. To reduce the chances of sensitization, family members must not act as blood donors. Once an individual requires transfusions, the individual should be referred for transplantation.

Toxic agents to avoid include smoking, secondhand smoke, and alcohol, which have been implicated in tumorigenesis.

Excessive sun exposure. Sunscreen and sun-protective clothing should be used to limit UV exposure.

Unsafe sex practices increase the risk for HPV-associated malignancy.

Radiographic studies for the purpose of surveillance should be minimized in the absence of clinical indications. However, baseline skeletal surveys may be considered, in order to document bony anomalies that may lead to problems with age, such as anomalies of the wrist, hip, and vertebrae.

Evaluation of Relatives at Risk

For early diagnosis and treatment. It is appropriate to evaluate all sibs of an affected individual with autosomal recessive FA (and all at-risk family members of an individual with autosomal dominant [RAD51-related] or X-linked [FANCB-related] FA) in order to identify as early as possible those who would benefit from appropriate monitoring for FA-related physical abnormalities, bone marrow failure, and related cancers. Evaluations include:

• Molecular genetic testing if the FA-related pathogenic variant(s) in the family are known;
• Cytogenetic testing of lymphocytes with diepoxybutane (DEB) and mitomycin C (MMC) for detection of increased chromosome breakage and radial forms.

For hematopoietic stem cell donation

• It is imperative that a diagnosis of FA be conclusively excluded using cytogenetic or molecular testing as above in any family member under consideration as a potential donor.
• Following exclusion of diagnosis of FA and confirmation of HLA compatibility, the individual(s) should undergo the standard donor evaluation protocol applicable to all prospective donors.

Breast cancer susceptibility. Heterozygous pathogenic variants in some FA-related genes are known to be associated with an increased risk for breast and other cancers (see Genetically Related Disorders). Family members found to have a pathogenic variant in a known cancer susceptibility gene should undergo cancer screening as recommended in the NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, and Prostate (no-fee registration and login required) and under the care of a genetic health care professional.

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Pregnancy Management

Pregnancy is possible in females with FA, whether or not they have undergone HSCT [Nabhan et al 2010, Tsui & Crismani 2019].

Pregnancy needs to be managed by a high-risk maternal-fetal obstetrician along with a hematologist.

Therapies Under Investigation

Gene therapy. Several early phase clinical trials of FANCA gene therapy using lentiviral vectors were conducted at sites worldwide, including Stanford University and University of Washington / Fred Hutchinson Cancer Research Center in the United States, Hospital Universitari Vall d'Hebron Research Institute in Spain, and Shenzhen Geno-Immune Medical Institute in China. All of these trials are now terminated or no longer actively recruiting.

Separately, the US National Heart, Lung, and Blood Institute completed a Phase I trial of retroviral vector transduction of autologous CD34+ stem cells in individuals with FANCC-related FA (results pending).

While some trials aim to correct CD34+ stem cells obtained from bone marrow harvest, others are exploring peripheral blood mobilization with a combination of G-CSF and plerixafor, shown advantageous in preclinical models [Río et al 2017].

HSCT. A multicenter study (Cincinnati Children's Hospital Medical Center, Memorial Sloan Kettering Cancer Center, and Fred Hutchinson Cancer Research Center) is investigating risk-adjusted busulfan dosing in a chemotherapy-only conditioning regimen for HSCT in Fanconi anemia (including individuals with MDS and leukemia in addition to those with bone marrow failure as HSCT indication) (NCT02143830).

Ex vivo T-cell receptor alpha/beta depletion of the stem cell product in HSCT is under investigation at the University of Minnesota to reduce the risk of graft-vs-host disease and allow avoidance of post-HSCT immune suppression (NCT03579875).

A Phase Ib clinical trial in individuals with FA and bone marrow failure evaluated safety and efficacy of briquilimab (anti-CD117 antibody)-based conditioning in combination with rabbit anti-thymocyte globulin, cyclophosphamide, fludarabine, and rituximab immunosuppression and T-cell receptor alpha/beta-depleted and CD19⁺ B cell-depleted haploidentical HSCT. All three individuals are alive and well [Agarwal et al 2025]. These data demonstrate the broad potential of this protocol in maintaining HSCT efficacy while further reducing toxicity (NCT04784052).

A Phase I/II trial will incorporate an anti-cKIT antibody into HSCT conditioning to aid in myeloablation and reduce chemotherapy/radiation toxicity. This will be given in combination with T-cell receptor alpha/beta depletion of the stem cell product to individuals older than age two years with bone marrow failure as the HSCT indication (Jasper Therapeutics sponsored at Stanford University) (NCT04784052) [Agarwal et al 2025].

Hematopoiesis support. Phase I/II study results of the antioxidant quercetin, anti-hyperglycemic metformin, and thrombopoietin mimetic eltrombopag for bone marrow failure in children and adults with FA have been published.

In a dose-finding Phase I study, quercetin, a natural antioxidant, was safe and well tolerated in individuals with FA. Based on pharmacokinetics, a recommended dose of quercetin was identified and was utilized in a Phase II study enrolling 18 individuals [Mehta et al 2025].

In the metformin study, 13/14 individuals with FA-related cytopenia (93%) tolerated maximal dosing for age; one individual had dose reduction for grade 2 gastrointestinal symptoms. Four of 13 individuals (31%) had a hematologic response [Pollard et al 2022]. Using similar predefined criteria, 8/15 individuals (53%) with cytopenia had a hematologic response at some point after quercetin therapy, three of whom had a more sustained response in cell counts. However, interpretation of these data is complex. Note that small sample size related to the rarity of FA, differences in severity of baseline bone marrow failure, along with inherent count fluctuation in individuals with FA limit assessment of response in both studies, and the results must therefore be viewed with caution.

In the study evaluating eltrombopag in individuals with FA, 1/8 participants required dose adjustments due to gastrointestinal intolerance, and two additional participants required modifications owing to abnormalities in hepatobiliary laboratory parameters. No clonal evolution was detected through conventional cytogenetic analysis; however, one individual developed a transient somatic RUNX1 variant. Eltrombopag did not produce clinically meaningful therapeutic responses. An increase in gene-corrected cells was observed in one mosaic individual and in two recipients of gene therapy, indicating that the drug may have conferred a proliferative advantage to corrected cells over uncorrected counterparts [Iriondo et al 2025].

Squamous cell carcinoma (SCC). A Phase II study of the antioxidant quercetin for prevention of SCC in individuals with FA is near completion at Cincinnati Children's Hospital Medical Center (NCT03476330).

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions.

Mode of Inheritance

Fanconi anemia (FA) is inherited in an autosomal recessive manner, an autosomal dominant manner (RAD51-related FA), or an X-linked manner (FANCB-related FA).

Autosomal Recessive Inheritance – Risk to Family Members

Parents of a proband

• The parents of a child with autosomal recessive FA are presumed to be heterozygous for an FA-related pathogenic variant.
• If a molecular diagnosis has been established in the proband, molecular genetic testing is recommended for the parents of the proband to confirm that both parents are heterozygous for an FA-related pathogenic variant and to allow reliable recurrence risk assessment.
• If a pathogenic variant is detected in only one parent and parental identity testing has confirmed biological maternity and paternity, it is possible that one of the pathogenic variants identified in the proband occurred as a de novo event in the proband or as a postzygotic de novo event in a mosaic parent [Jónsson et al 2017]. If the proband appears to have homozygous pathogenic variants (i.e., the same two pathogenic variants), additional possibilities to consider include:
  • A single- or multiexon deletion in the proband that was not detected by sequence analysis and that resulted in the artifactual appearance of homozygosity;
  • Uniparental isodisomy for the parental chromosome with the pathogenic variant that resulted in homozygosity for the pathogenic variant in the proband.
• Heterozygotes are not at risk for autosomal recessive FA. However, heterozygous pathogenic variants in a subset of FA-related genes (e.g., BRCA1, BRCA2, BRIP1, PALB2, and RAD51C) are associated with an increased risk for breast and other cancers [Alter et al 2018, Taylor et al 2019, Alter & Best 2020, Deng et al 2024]. Heterozygous pathogenic variants in SLX4 and UBE2T have also been associated with increased risk of malignancy [Deng et al 2024]. (See Genetically Related Disorders and BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer.)

Sibs of a proband

• If both parents are known to be heterozygous for an autosomal recessive FA-related pathogenic variant, each sib of an affected individual has at conception a 25% chance of inheriting both pathogenic variants and being affected, a 50% chance of inheriting one pathogenic variant and being heterozygous, and a 25% chance of inheriting neither of the familial FA-related pathogenic variants.
• Heterozygotes are not at risk for autosomal recessive FA. However, heterozygous pathogenic variants in a subset of FA-related genes (e.g., BRCA1, BRCA2, BRIP1, PALB2, and RAD51C) are associated with an increased risk for breast and other cancers [Alter et al 2018, Taylor et al 2019, Alter & Best 2020, Deng et al 2024]. Heterozygous pathogenic variants in SLX4 and UBE2T have also been associated with increased risk of malignancy [Deng et al 2024]. (See Genetically Related Disorders and BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer.)

Offspring of a proband. Unless an affected individual's reproductive partner also has FA-related pathogenic variant(s), offspring of an individual with autosomal recessive FA will be obligate heterozygotes for a pathogenic variant in an FA-related gene.

Other family members. Each sib of the proband's parents is at a 50% risk of being heterozygous for a pathogenic variant in an FA-related gene.

Heterozygote detection

• Heterozygote testing for at-risk relatives requires prior identification of the FA-related pathogenic variants in the family.
• Individuals who are heterozygous for an autosomal recessive FA-related pathogenic variant cannot be detected by cytogenetic testing of lymphocytes with diepoxybutane (DEB) and mitomycin C (MMC).

Autosomal Dominant Inheritance – Risk to Family Members (RAD51-Related FA)

Parents of a proband

• All probands with RAD51-related FA reported to date whose parents have undergone molecular genetic testing have the disorder as a result of a de novo RAD51 pathogenic variant [Ameziane et al 2015, Wang et al 2015, Takenaka et al 2019, Geilmann et al 2023].
• If the proband appears to be the only affected family member (i.e., a simplex case), molecular genetic testing is recommended for the parents of the proband to evaluate their genetic status and inform recurrence risk assessment.
• If the pathogenic variant identified in the proband is not identified in either parent and parental identity testing has confirmed biological maternity and paternity, the following possibilities should be considered:
  • The proband has a de novo pathogenic variant.
  • The proband inherited a pathogenic variant from a parent with gonadal (or somatic and gonadal) mosaicism. Note: Testing of parental leukocyte DNA may not detect all instances of somatic mosaicism and will not detect a pathogenic variant that is present in the germ (gonadal) cells only.

Sibs of a proband. The risk to the sibs of the proband depends on the genetic status of the proband's parents:

• If a parent of the proband has the RAD51 pathogenic variant identified in the proband, the risk to the sibs of inheriting the pathogenic variant is 50%.
• If the RAD51 pathogenic variant identified in the proband cannot be detected in the leukocyte DNA of either parent, the recurrence risk to sibs is estimated to be 1% because of the possibility of parental gonadal mosaicism [Rahbari et al 2016]. (Parental gonadal mosaicism has not been described to date in RAD51-related FA.)

Offspring of a proband. Each child of an individual with RAD51-related FA is presumed to have a 50% chance of inheriting the pathogenic variant; however, only one individual with RAD51-related FA has reached adulthood and no offspring have been reported.

Other family members. Given that all probands with RAD51-related FA reported to date have the disorder as a result of a de novo RAD51 pathogenic variant, the risk to other family members is presumed to be low.

X-Linked Inheritance – Risk to Family Members (FANCB-Related FA)

Parents of a male proband

• The father of a male with FANCB-related FA will not have the disorder nor will he be hemizygous for the FANCB pathogenic variant; therefore, he does not require further evaluation/testing.
• In a family with more than one affected individual, the mother of an affected male is an obligate heterozygote. Note: If a woman has more than one affected child and no other affected relatives and if the FANCB pathogenic variant cannot be detected in her leukocyte DNA, she most likely has gonadal mosaicism.
• If a male is the only affected family member (i.e., a simplex case), the mother may be a heterozygote, the affected male may have a de novo FANCB pathogenic variant (in which case the mother is not a heterozygote), or the mother may have somatic/gonadal mosaicism.
• Molecular genetic testing of the mother is recommended to confirm her genetic status and to allow reliable recurrence risk assessment.

Sibs of a male proband. The risk to sibs depends on the genetic status of the mother:

• If the mother of the proband has a FANCB pathogenic variant, the chance of the mother transmitting it in each pregnancy is 50%.
  • Male sibs who inherit the pathogenic variant will be affected.
  • Female sibs who inherit the pathogenic variant will be heterozygotes and will usually not be affected [McCauley et al 2011, Jung et al 2020].
• If the proband represents a simplex case (i.e., a single occurrence in a family) and if the FANCB pathogenic variant cannot be detected in the leukocyte DNA of the mother, the risk to sibs is greater than that of the general population because of the possibility of maternal gonadal mosaicism.

Offspring of a male proband

• Affected males transmit the FANCB pathogenic variant to all of their daughters (who will be heterozygotes) and none of their sons.
• To date, no male with FANCB-related FA has been old enough to have children; they may also be infertile, as are many males with FA. Further, FANCB has been demonstrated essential to regulation of spermatogenesis and affected mice are infertile [Kato et al 2015].

Other family members. The maternal aunts and maternal cousins of a male proband may be at risk of having a FANCB pathogenic variant.

Note: Molecular genetic testing may be able to identify the family member in whom a de novo pathogenic variant arose – information that could help determine genetic risk status of the extended family.

Heterozygote detection

• Heterozygote testing for at-risk female relatives requires prior identification of the FANCB pathogenic variant in the family.
• Individuals who are heterozygous for a FANCB pathogenic variant cannot be detected by cytogenetic testing of lymphocytes with DEB and MMC.

Related Genetic Counseling Issues

See Management, Evaluation of Relatives at Risk for information on evaluating sibs and other at-risk relatives for the purpose of early diagnosis and treatment.

Family planning

• The optimal time for determination of genetic risk and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.
• It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected or are at risk of having FA-related pathogenic variant(s).
• Carrier testing should be considered for the reproductive partners of individuals with autosomal recessive FA and individuals known to be carriers of an autosomal recessive FA-related pathogenic variant, particularly if both partners are of the same ancestry. Rosenberg et al [2011] showed higher carrier rates for pathogenic variants associated with FA than previously reported: carrier frequency was 1:181 in North Americans and 1:93 in Israel. Specific populations have founder variants with increased carrier frequencies (<1:100) (see Prevalence and Table 11).
• The American College of Medical Genetics and Genomics includes FANCC-related FA among those disorders for which carrier screening should be offered to all individuals who are pregnant or planning a pregnancy [Gregg et al 2021].

DNA banking. Because it is likely that testing methodology and our understanding of genes, pathogenic mechanisms, and diseases will improve in the future, consideration should be given to banking DNA from probands in whom a molecular diagnosis has not been confirmed (i.e., the causative pathogenic mechanism unknown). For more information, see Huang et al [2022].

Prenatal Testing and Preimplantation Genetic Testing

Molecular genetic testing. Once the FA-related pathogenic variant(s) have been identified in an affected family member, prenatal and preimplantation genetic testing for FA are possible. Preimplantation genetic testing has successfully identified at-risk embryos as unaffected with FA and HLA matched to affected sibs [Kahraman et al 2014, Rechitsky et al 2020].

Chromosome breakage. Prenatal testing is also possible for pregnancies at increased risk for FA by performing cytogenetic testing in the presence of DEB/MMC to evaluate for increased chromosome breakage in fetal cells obtained by chorionic villus sampling or amniocentesis [Auerbach 2015]; however, if the pathogenic variants are known in the family, molecular genetic testing is the method of choice for prenatal diagnosis.

Fetal ultrasound evaluation. Ultrasound examination can be used to evaluate for fetal anomalies consistent with FA. However, ultrasound examination is not a diagnostic test for FA. Many congenital anomalies characteristic of FA may not be detectable by ultrasound examination, and those that can be seen may be associated with diagnoses other than FA [Gandhi et al 2019].

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal and preimplantation genetic testing. While most health care professionals would consider use of prenatal and preimplantation genetic testing to be a personal decision, discussion of these issues may be helpful.

Molecular Pathogenesis

At least 23 genes that are involved in Fanconi anemia (FA) and account for each of the phenotypic complementation groups have been identified. The proteins encoded by the FA-related genes are considered to work together in a common pathway/network called "the FA pathway" or "the FA-BRCA pathway/network," which regulates cellular resistance to DNA cross-linking agents [Fiesco-Roa et al 2019, Peake & Noguchi 2022].

Eight of the FA proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL, and FANCM), along with proteins FAAP24 [Ciccia et al 2007] and FAAP100 [Ling et al 2007], are assembled in a nuclear complex (FA core complex). This complex is a multisubunit ubiquitin ligase complex; monoubiquitination of two other FA proteins (FANCD2 and FANCI) depends on the FA core complex [Garcia-Higuera et al 2001, Smogorzewska et al 2007]. In response to DNA damage or in S phase of the cell cycle, this FA core complex activates the monoubiquitination of the FANCD2 and FANCI proteins. Monoubiquitinated FANCD2 and monoubiquitinated FANCI are translocated to nuclear foci containing the proteins BRCA1, BRCA2, PALB2, and RAD51. FANCI shares sequence similarity with FANCD2; together they form a protein complex (ID complex) [Smogorzewska et al 2007]. Monoubiquitination of FANCD2 and FANCI is interdependent [Smogorzewska et al 2007]. A nuclease, FAN1, has been shown to bind to monoubiquitinated FANCD2, which directs its enzymatic activity [Huang & D'Andrea 2010]. A cell-free system has been used to recapitulate cross-link repair in vitro [Knipscheer et al 2009].

Furthermore, the FA core complex forms a larger complex with BLM, RPA, and topoisomerase IIIα, called BRAFT (BLM, RPA, FA, and topoisomerase IIIα) [Meetei et al 2003] in a further link to Bloom syndrome. FANCM is found in both separable complexes: the FA core complex as well as the BLM complex [Deans & West 2009].

BRCA2 is a tumor suppressor gene that confers breast cancer susceptibility [Howlett et al 2002] and has a distinct clinical phenotype [Wagner et al 2004, Alter et al 2007, Myers et al 2012]. BRCA2 protein stability and localization is regulated by PALB2 (partner and localizer of BRCA2) [Xia et al 2006], encoded by PALB2, another breast cancer susceptibility gene [Reid et al 2007]. Another breast cancer susceptibility gene [Seal et al 2006], BRIP1, is also associated with FA [Levitus et al 2005, Levran et al 2005, Litman et al 2005]. BRCA2, PALB2, and BRIP1 are not required for FANCD2 protein monoubiquitination or FANCD2 nuclear foci formation but are still required for cellular resistance to mitomycin C (MMC) or diepoxybutane (DEB). BRCA2 has been found to act in multiple subcomplexes of FA proteins, including FANCG and FANCD2 [Wilson et al 2010], suggesting that the notion of acting downstream of FANCD2 monoubiquitination may be too simplistic. Phosphorylation of FANCD2 by CHK1 has been shown to be necessary for interaction with BRCA2 [Zhi et al 2009]. BRIP1 and FANCD2 have also been shown to be functionally linked in foci formation [Zhang et al 2010].

Amelioration of FA pathology has been implicated in reports of downregulation of elements of the non-homologous end-joining pathway [Adamo et al 2010]. These data propose that much of FA pathophysiology results from the unfettered work of non-homologous end joining promoting inaccurate repair. On the other hand, FA involvement in homologous recombinatorial repair has been well established in interactions with BRCA1, BRCA2, and RAD51C. FANCD2 has also been shown to interact with PCNA and pol K, suggesting that translesion synthesis, a variant of homologous recombination, may be the most direct function of FA proteins in bypass of the lesion [Ho & Schärer 2010, Song et al 2010].

Mechanism of disease causation. Loss of function

Author Notes

Christen L Ebens, MD, MPH
Email: ude.nmu@210snebe
Wep pages:

• med.umn.edu/bio/christen-ebens
• med.umn.edu/pediatrics/about/programs-centers-institutes/fanconi-anemia-center

Parinda A Mehta, MD
Email: gro.cmhcc@athem.adnirap
Web pages:

• www.cincinnatichildrens.org/bio/m/parinda-mehta
• www.cincinnatichildrens.org/service/f/fanconi-anemia

Acknowledgments

The authors express their sincere gratitude to the individuals with Fanconi anemia (FA) and their families for their participation in numerous studies and for their essential contributions to advancing the field. We also extend special thanks to the clinicians and researchers whose unwavering scientific and clinical efforts continue to deepen our understanding of the disease and improve outcomes for individuals with FA.

Author History

Blanche P Alter, MD, MPH, FAAP; National Cancer Institute (2011-2016)
Alan D'Andrea, MD; Dana Farber Cancer Institute (2002-2007)
Christen L Ebens, MD, MPH (2021-present)
Gary Kupfer, MD; Yale University School of Medicine (2011-2016)
Parinda A Mehta, MD (2016-present)
Lisa Moreau, MS; Dana Farber Cancer Institute (2002-2007)
Akiko Shimamura, MD, PhD; Dana Farber Cancer Institute (2002-2007)
Toshiyasu Taniguchi, MD, PhD; Fred Hutchinson Cancer Research Center (2007-2011)
Jakub Tolar, MD, PhD; University of Minnesota (2016-2021)

Revision History

• 15 January 2026 (sw) Comprehensive update posted live
• 3 June 2021 (sw) Comprehensive update posted live
• 22 September 2016 (sw) Comprehensive update posted live
• 10 February 2011 (me) Comprehensive update posted live
• 22 June 2007 (me) Comprehensive update posted live
• 13 September 2004 (me) Comprehensive update posted live
• 14 February 2002 (me) Review posted live
• 31 May 2001 (as) Original submission

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