{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:10:40Z","timestamp":1753891840766,"version":"3.41.2"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T00:00:00Z","timestamp":1748563200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:p>Pathogenic alterations in <jats:italic>BRCA1<\/jats:italic> are associated with autosomal dominant breast and ovarian cancer and autosomal recessive Fanconi Anemia Subtype S (FA-S). FA-S accounts for &amp;lt;1% of all reported cases of FA with only ten patients identified in the literature to-date. Here we describe an eleventh FA-S proband with severe microcephaly, growth failure, duodenal stenosis, hyperpigmented macules, dysmorphic features, and abnormal chromosomal breakage, consistent with other FA-S patients. Two pathogenic <jats:italic>BRCA1<\/jats:italic> variants (c.191G&amp;gt;A, p.C64Y and c.3991C&amp;gt;T, p.Q1331*) were identified in <jats:italic>trans<\/jats:italic>. At four years old, this patient has not been diagnosed with cancer or bone marrow failure, which are hallmark features in other subtypes of FA. Like a majority of the literature-reported FA-S patients, this patient harbors a truncating variant in <jats:italic>BRCA1<\/jats:italic> exon 11. This exon undergoes alternative splicing resulting in a protein with partial BRCA1 activity. The retained activity may be enough to rescue an otherwise lethal phenotype explaining the viability of FA-S patients. This retained functional activity may also modify clinical cancer risks and treatment implications for heterozygous carriers of exon 11 truncating variants. This work further characterizes the features of FA-S patients and discusses a molecular hypothesis for the rarity and viability of individuals with this condition.<\/jats:p>","DOI":"10.3389\/fonc.2025.1572310","type":"journal-article","created":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T04:11:07Z","timestamp":1748578267000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Biallelic BRCA1 pathogenic alterations in a Fanconi Anemia patient and clinical implications of variant location"],"prefix":"10.3389","volume":"15","author":[{"given":"Colin 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