{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T12:05:14Z","timestamp":1791115514390,"version":"4.1.0"},"reference-count":21,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2007,7]]},"abstract":"<jats:p>Familial non-Hodgkin lymphoma (NHL) is rare and in most cases, no underlying cause is identifiable. We report homozygous truncating mutations in the mismatch repair gene <jats:italic>MSH2<\/jats:italic> (226C\u2192T; Q76X) in three siblings who each developed T-cell NHL in early childhood. All three children had hyperpigmented and hypopigmented skin lesions.<\/jats:p>\n               <jats:p>Constitutional biallelic <jats:italic>MSH2<\/jats:italic> mutations have previously been reported in five individuals, all of whom developed malignancy in childhood. Familial lymphoma has not been reported in this context or in association with biallelic mutations in the other mismatch repair genes <jats:italic>MLH1, MSH6<\/jats:italic> or <jats:italic>PMS2<\/jats:italic>. In addition, hypopigmented skin lesions have not previously been reported in biallelic <jats:italic>MSH2<\/jats:italic> carriers. Our findings therefore expand the spectrum of phenotypes associated with biallelic <jats:italic>MSH2<\/jats:italic> mutations and identify a new cause of familial lymphoma. Moreover, the diagnosis has important management implications as it allows the avoidance of chemotherapeutic agents likely to be ineffective and mutagenic in the proband, and the provision of cascade genetic testing and tumour screening for relatives.<\/jats:p>","DOI":"10.1136\/jmg.2007.048942","type":"journal-article","created":{"date-parts":[[2007,6,29]],"date-time":"2007-06-29T13:38:49Z","timestamp":1183124329000},"page":"e83-e83","source":"Crossref","is-referenced-by-count":41,"title":["Familial T-cell non-Hodgkin lymphoma caused by biallelic <i>MSH2<\/i> mutations"],"prefix":"10.1136","volume":"44","author":[{"given":"Richard H","family":"Scott","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tessa","family":"Homfray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola 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