Information on FANCD1
Basic details
Name: Fanconi anemia, complementation group D1 | Acronym: FANCD1
Alt. names:
Gene: BRCA2 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2002
Last updated on: 2023-02-28 16:41:18 by
Description
For hereditary breast and ovarian cancer, though the availability of empirical data is incomplete as applies to both screening strategies and prophylactic treatment, surveillance is based on the age of affected family members (for breast cancer, surveillance includes self-examination as well as regular clinical examinations, mammography, and MRI; for ovarian cancer, screening includes regular pelvic examination, transvaginal ultrasounds with Doppler, and CA-125 measurement; for prostate cancer, screening includes regular rectal examination and PSA measurement); Prophylactic mastectomy and/or oophorectomy, as well as chemoprevention (eg, with tamoxifen) are described; Treatment of breast and ovarian cancer follows standard guidelines (ie, that apply more generally), though, new targeted therapies are under investigation; There are little empiric data regarding other cancer types, though awareness may allow early diagnosis and treatment; For individuals with metastatic Prostate cancer, management with PARP-inhibitors has been described as improving progression-free survival; For Fanconi anemia: specific treatments can help manifestations (eg, oral androgens for blood counts; G-CSF for neutrophil count), and HSCT can be curative, but solid tumor risk may remain; Surveillance for complications such as bone marrow failure is recommended. Variants may also predispose to a number of other malignancies. Refs. PMIDs: 8091231; 8524414; 7597059; 9140390; 10441598; 10807385; 12036267; 11133358; 12065746; 12097290; 12161607; 12023992; 12023993; 14569130; 12556369; 14670928; 15912495; 15948173; 15689453; 16825431; 18264087; 18349832; 18355772; 18413374; 19190154; 21118973; 21593217; 21531449; 20216074; 22614657; 23285130; 31157963
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Intrauterine growth retardation |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Acute myeloid leukemia |
5 (71.4%) | 0 (0.0%) | 2 (28.6%) |
| 3 | Failure to thrive |
5 (71.4%) | 0 (0.0%) | 2 (28.6%) |
| 4 | Cafe-au-lait spot |
4 (57.1%) | 0 (0.0%) | 3 (42.9%) |
| 5 | Microcephaly |
3 (42.9%) | 0 (0.0%) | 4 (57.1%) |
| 6 | Anal atresia |
2 (28.6%) | 0 (0.0%) | 5 (71.4%) |
| 7 | Short thumb |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 8 | T acute lymphoblastic leukemia |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.