Associated disorders

The FANCC gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 483324). Additionally, there is preliminary evidence that the FANCC gene is associated with an increased risk for autosomal dominant breast and pancreatic cancer in individuals who carry a single pathogenic FANCC variant.

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Invitae tests that include this gene:

The gene FANCC encodes Fanconi anemia group C protein. This protein assembles with other Fanconi proteins into a nuclear complex called the FA core complex which is involved in the cellular response and repair of DNA damage.

FANCC heterozygote
MedGen UID: 483324

Clinical condition
There is preliminary evidence suggesting pathogenic variants in FANCC may be associated with a predisposition to breast and pancreatic cancer (PMID: 23028338, 12750283, 15695377, 17909071). There may also be an increased risk for other cancer types, but the evidence is currently limited. FANCC is therefore considered to be a preliminary evidence gene for autosomal dominant cancer. preliminary evidence genes are selected upon extensive review of the literature and according to expert recommendations, though the association between the gene and a particular specific condition has not yet been completely established. This uncertainty may be resolved as new information becomes available, which is the reason that clinicians continue to order these preliminary evidence genes.

Gene information
The FANCC gene is one of a group of classical Fanconi anemia genes whose protein products physically interact in a multiprotein core complex Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {613899}: {06/15/2015}: World Wide Web URL: FANCC encodes a DNA-repair protein that may operate in a postreplication repair or a cell-cycle checkpoint function (UniProtKB – Q00597 (FANCC_HUMAN); Accessed September 2015). This protein may be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. If there is a pathogenic variant in this gene that prevents it from functioning normally, the risk of developing certain types of cancers is increased.

Hereditary predisposition to cancer due to pathogenic variants in the FANCC gene has autosomal dominant inheritance. This means that an individual with a pathogenic variant has a 50% chance of passing the condition on to their offspring. Once a pathogenic mutation is detected in an individual, it is possible to identify at-risk relatives who can pursue testing for this specific familial variant. Many cases are inherited from a parent, but some cases can occur spontaneously (i.e., an individual with a pathogenic variant has parents who do not have it). An individual with a variant in FANCC has a 50% risk of passing that variant on to offspring.

Individuals with a pathogenic variant in FANCC are also carriers of Fanconi anemia type C. Fanconi anemia is an autosomal recessive disorder that is characterized by bone marrow failure and variable presentation of additional anomalies, including short stature, abnormal skin pigmentation, abnormal thumbs, malformations of the skeletal and central nervous systems, and developmental delay (PMID: 8986277, 20417588). Risks for leukemia and early onset solid tumors are significantly elevated (PMID: 12393424, 12393516, 20507306). For there to be a risk of Fanconi anemia in offspring, a patient and their partner would both have to have a single pathogenic variant in FANCC; in such a case, the risk of having an affected child is 25%.

Because the evidence regarding FANCC and breast and pancreatic cancer risk is limited and preliminary, there are no guidelines or recommendations to suggest alterations to medical management based solely on the presence of a pathogenic FANCC variant. However, an individual’s cancer risk and medical management are not determined by genetic test results alone. Overall cancer risk assessment incorporates additional factors, including personal medical history, family history, and any available genetic information that may result in a personalized plan for cancer prevention and surveillance.

Even though data regarding pathogenic FANCC is limited, knowing if a pathogenic variant is present is advantageous. At-risk relatives can be identified, enabling pursuit of a diagnostic evaluation. Further, the available information regarding hereditary cancer susceptibility genes is constantly evolving and more clinically relevant data regarding FANCC are likely to become available in the near future. Awareness of this cancer predisposition encourages patients and their providers to inform at-risk family members, to diligently follow standard screening protocols, and to be vigilant in maintaining close and regular contact with their local genetics clinic in anticipation of new information.


Review date: September 2015

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
FANCC NM_000136.2