Table 2.

Phenotypic characteristics associated with deleterious mutations

GenePositionaNucleotideCodonAge, yPersonal history of other cancer (age at diagnosis)Cancer in first- and second-degree relativesbHereditary syndrome by NCCN criteria
ATM108,141,828c.2880delC64None3 colorectal
ATM108,183,151c.5932G>Tp.Glu1978X83Breast (67)1 breast
ATM108,186,555c.6012_6013insA66Liver (66)None
ATM108,200,960c.7327C>Tp.Arg2443X67Unknown (67)1 pancreatic
BARD1215,595,215c.1921C>Tp.Arg641X71None1 pancreatic
BRCA141,258,472c.212+1G>A59None2 breast, 1 pancreaticYes (HBOC V2.2015)
BRCA232,914,356c.5864C>Ap.Ser1955X69None1 breastYes (HBOC V2.2015)
BRCA232,914,859c.6373dupA51None2 pancreatic, 2 breast, 1 endometrialYes (HBOC V2.2015)
CHEK229,091,856c.1100delC79NoneNone
FANCM45,644,539c.2586_2589delAAAA76Melanoma2 breast, 1 pancreatic
MSH648,033,592c.3804dupA63Endometrial (43)2 breast, 2 colorectalYes (Lynch syndrome V 1.2015)
MSH648,033,791c.4001+11_4001+35del2575None1 breastNo (Lynch syndrome V1.2015)
NBN/CHEK290,983,441c.657_661del5/1100delC80NoneNone

NOTE: Novel deleterious mutations are in bold.

  • aThe reference sequence for variant position is Hg19.

  • bOnly breast cancer, pancreatic cancer, colorectal cancer, and endometrial cancer in relatives were counted.