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Whole genome sequencing (WGS) was conducted, which included targeted analysis of a panel of 115 lens-related genes and incidental findings, for which patients are unable to opt-out. Genetic testing identified the causative variant c.134T&gt;C (p.Leu45Pro) in the <jats:italic>CRYGC<\/jats:italic> gene. A pathogenic variant in <jats:italic>BRCA2<\/jats:italic> was also identified as a secondary finding. This was unexpected given the absence of a strong family history of breast or ovarian cancer. This case illustrates the importance of genetic counselling and informing patients about the implications of incidental findings that arise from WGS.<\/jats:p>","DOI":"10.1136\/bcr-2024-260755","type":"journal-article","created":{"date-parts":[[2024,10,12]],"date-time":"2024-10-12T00:50:15Z","timestamp":1728694215000},"page":"e260755","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Incidental finding of a <i>BRCA2<\/i> variant following whole genome sequencing to molecularly diagnose bilateral congenital cataracts"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-2438-5955","authenticated-orcid":false,"given":"Cara","family":"Heppell","sequence":"first","affiliation":[{"name":"Genetics Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samantha","family":"Malka","sequence":"additional","affiliation":[{"name":"Genetics Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariya","family":"Moosajee","sequence":"additional","affiliation":[{"name":"Genetics Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK"},{"name":"Development, Ageing and Disease, UCL Institute of Ophthalmology, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,10,11]]},"reference":[{"key":"2025082804362872000_17.10.e260755.1","doi-asserted-by":"publisher","DOI":"10.1364\/AO.10.000459"},{"key":"2025082804362872000_17.10.e260755.2","doi-asserted-by":"crossref","first-page":"28564","DOI":"10.1038\/srep28564","article-title":"Prevalence and epidemiological characteristics of congenital cataract: a systematic review and meta-analysis","volume":"6","author":"Wu","year":"2016","journal-title":"Sci Rep"},{"key":"2025082804362872000_17.10.e260755.3","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1016\/S0886-3350(97)80040-5","article-title":"Epidemiology of cataract in childhood: a global perspective","volume":"23 Suppl 1","author":"Foster","year":"1997","journal-title":"J Cataract Refract Surg"},{"key":"2025082804362872000_17.10.e260755.4","article-title":"Congenital cataract: a guide to genetic and clinical management","volume":"1","author":"Bell","year":"2020","journal-title":"Ther Adv Rare Dis"},{"key":"2025082804362872000_17.10.e260755.5","doi-asserted-by":"crossref","DOI":"10.3390\/genes12020131","article-title":"Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts","volume":"12","author":"Bell","year":"2021","journal-title":"Genes (Basel)"},{"key":"2025082804362872000_17.10.e260755.6","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.125.2.165"},{"key":"2025082804362872000_17.10.e260755.7","unstructured":"PanelApp, GenomicsEngland . 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