Abstract：
:Constitutional mismatch repair deficiency syndrome (CMMRD) is a rare autosomal recessive predisposition to colorectal polyposis and other malignancies, often childhood-onset, that is caused by biallelic inheritance of mutations in the same mismatch repair gene. Here, we describe a patient with a clinical diagnosis of CMMRD based on colorectal polyposis and young-onset endometrial cancer who was identified to have two alterations in trans in PMS2: one known pathogenic mutation (c.1831insA; p.Ile611Asnfs*2) and one novel variant of uncertain significance (c.505C>G; p.Arg169Glu), a missense alteration. We describe the clinical and molecular features in the patient harboring this novel alteration c.505C>G, who meets clinical criteria for CMMRD and exhibits molecular evidence supporting a diagnosis of CMMRD. Although experimental validation is needed to confirm its pathogenicity, PMS2 c.505C>G likely has functional consequences that contributes to our patient's phenotype based on the patient's clinical presentation, tumor studies, and bioinformatics analysis.
journal_name
Fam Cancerjournal_title
Familial cancerauthors
Mork ME,Borras E,Taggart MW,Cuddy A,Bannon SA,You YN,Lynch PM,Ramirez PT,Rodriguez-Bigas MA,Vilar Edoi
10.1007/s10689-016-9902-8subject
Has Abstractpub_date
2016-10-01 00:00:00pages
587-91issue
4eissn
1389-9600issn
1573-7292pii
10.1007/s10689-016-9902-8journal_volume
15pub_type
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