Name: Fanconi anemia, complementation group S | Acronym: FANCS
Alt. names:

Gene: BRCA1 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 1 | First reported in: 2012

Last updated on: 2023-02-28 16:41:18 by

OMIM: 617883

Orphanet: -

MONDO: -

DOID: -

ClinGen:

For hereditary 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; 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: 7894491; 7894493; 7545954; 9012404; 9450858; 10441598; 10885351; 11157798; 12036267; 11463009; 11463017; 12023992; 12023993; 12161607; 14569130; 12677558; 17233897; 17307836; 18413374; 18349832; 18762988; 19656774; 19190154; 20216074; 20495085; 21531449; 22317870; 22614657; 23269703; 25472942; 29133208; 31157963

Description of management option has not been reviewed yet.