Table 1.

List of the seven variants investigated in splicing analyses including the patients' phenotype (tumor type, age at diagnosis in years (y), family history of cancers), and tumor specification in terms of immunohistochemical protein staining (IHC) and high microsatellite instability (MSI-H).

Gene and variant	cDNA from	Patient phenotype, age at diagnosis, and family history	Tumor specification
MSH2 c.211G>C p.(Gly71Arg)	BCN	Colon cancer of hepatic flexure at 45 y; sister with endometrial cancer at 58 y, mother with skin cancer at 68 y.	MSI-H, IHC loss of MSH2/MSH6 in colon cancer in this patient and in three additional tumors from unrelated variant carriers
MSH2 c.1276G>A p.(Gly426Arg)	BCN	Ovarian cancer at 42 y and cecum colon cancer at 62 y; daughter with endometrial cancer at 30 y.	MSI-H, IHC loss of MSH2/MSH6 in colon cancer in this patient, her daughter, and one additional unrelated patient with this variant
MSH2 c.2459-12A>G p.?	MUC	Right-sided colon cancer at 52 y; brother with CRC at 35 y, melanoma at 40 y, larynx cancer at 48 y, grandmother with CNS cancer at 55 y.	MSI-H, IHC loss of MSH2/MSH6 in colon cancer in this patient and in two additional unrelated patients with this variant
MSH6 c.1894A>G p.(Lys632Glu)	BCN	Synchronous ovarian and endometrial cancers at 78 y.	IHC loss of MSH6 in ovarian and endometrial cancer in this patient
MLH1 c.1039-2A>T p.?	MUC	Colon and prostate cancers at 57 y, colon and duodenal cancers at 66 y; father, brother and sister with CRC.	MSI-H, IHC loss of MLH1/PMS2 in duodenal cancer
MLH1 c.1217G>A(;)1989+3dup p.(Ser406Asn)(;)p.?	MUC	Right-sided colon cancer at 44 y.	MSI-H, IHC loss of MLH1/PMS2 in colon cancer

BCN Barcelona, MUC Munich.