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Oncol."],"abstract":"<jats:p>BRCA1 is involved in the Fanconi anaemia (FA) pathway, which coordinates repair of DNA interstrand cross-links. FA is a rare genetic disorder characterised by bone marrow failure, cancer predisposition and congenital abnormalities, caused by biallelic mutations affecting proteins in the FA pathway. Germline monoallelic pathogenic <jats:italic>BRCA1<\/jats:italic> mutations are known to be associated with hereditary breast\/ovarian cancer, however biallelic mutations of <jats:italic>BRCA1<\/jats:italic> were long predicted to be incompatible with embryonic viability, hence <jats:italic>BRCA1<\/jats:italic> was not considered to be a canonical FA gene. Despite this, several patients with biallelic pathogenic <jats:italic>BRCA1<\/jats:italic> mutations and FA-like phenotypes have been identified \u2013 defining a new FA type (FA-S) and designating <jats:italic>BRCA1<\/jats:italic> as an FA gene. This report presents a scoping review of the cases of biallelic <jats:italic>BRCA1<\/jats:italic> mutations identified to date, discusses the functional effects of the mutations identified, and proposes a phenotypic spectrum of <jats:italic>BRCA1<\/jats:italic> mutations based upon available clinical and genetic data. We report that this FA-S cohort phenotype includes short stature, microcephaly, facial dysmorphisms, hypo\/hyperpigmented lesions, intellectual disability, chromosomal sensitivity to crosslinking agents and predisposition to breast\/ovarian cancer and\/or childhood cancers, with some patients exhibiting sensitivity to chemotherapy. Unlike most other types of FA, FA-S patients lack bone marrow failure.<\/jats:p>","DOI":"10.3389\/fonc.2023.1278004","type":"journal-article","created":{"date-parts":[[2023,12,11]],"date-time":"2023-12-11T05:39:43Z","timestamp":1702273183000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":8,"title":["The emergence of Fanconi anaemia type S: a phenotypic spectrum of biallelic BRCA1 mutations"],"prefix":"10.3389","volume":"13","author":[{"given":"Tirion","family":"Hughes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna M.","family":"Rose","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,12,11]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1136\/jmg.40.1.1","article-title":"Fanconi 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