Table 2

Examples of germline mutations in chromatin remodeling genes and their associated conditions

GeneName of syndromeFeatures of syndromeExamples of cancers in patients with germline mutationsComment
ARID1ACoffin-Siris syndrome66ARID1A alterations were found in ~7% of Coffin-Siris syndrome66
Features of Coffin-Siris syndrome include developmental delays, hypoplastic digits, hirsutism, and microcephaly66
Cancers not describedCoffin-Siris syndrome is caused by mutations in the ARID1A, ARID1B, SMARCA4, SMARCB1 or SMARCE1 genes.66
ARID1BCoffin-Siris syndromeARID1B mutations were the most common cause of Coffin- Siris syndrome (51%–75%)Cancers not described
PBRM1Familial renal cell carcinomaA case report showed a family with renal cell carcinoma with germline mutations of PBRM175Renal cell carcinomaGermline PBRM1 truncating mutation (p. Asp1333Glyfs) associated with renal cell carcinoma75
SMARCB1Coffin Siris syndrome
Rhabdoid tumor predisposition syndrome (RTPS1)83
Typically, infants and children present with cancers, while some affected patients present with benign schwannomas.96Rhabdoid tumors,83 96
SMARCA4Rhabdoid tumor predisposition syndrome (RTPS2)83Typically, infants and children present with cancers, and 11% of Coffin Siris82 syndrome have SMARCA4 germline mutations.Rhabdoid tumors83
  • ARID1A, AT-rich Interactive Domain-containing protein; PBRM1, polybromo 1; SCCOHT, small cell carcinoma of the ovary hypercalcemic type; SMARCA4, SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin; SWI/SNF, mating-type SWItching (SWI) and sucrose fermentation (Sucrose Non-Fermenting - SNF).