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Family IDPatient IDSexPopulation the individual (or ancestors) belongs to; e.g. African, white, gypsy, jew (Ashkenazi), Sardinian, etc.Family HistorySelection Criteria for proband testingDetection Technique - refer to list in Detection Technique worksheetTesting Coverage - gene(s) or exon(s) or region(s) tested/screened Testing stopped when variant detected - Yes = stopped when variant foundYear test performedGeneVariant(s) - if a person has more than one variant, they can be listed in the same cell or another rowProteinClassification (Mandatory)
- Example: Pathogenic, Probably Pathogenic, Uncertain, Probably Not Pathogenic, Not Pathogenic		Variant Allele -
Both (Homozygous), Unknown, Paternal Confirmed, Paternal Inferred, Maternal Confirmed, Maternal Inferred, Parent #1, Parent #2 		Remarks -
Describe other important information for variant or patient		ICD-10Type of NeoplasmAge of onset/diagnosisLast known age if healthy/unknown diseaseAdditional PhenotypeControl frequency: # carriers/total # assayed (geographical origin/ethinicity) or estimated risk in case-control study (95% confidence interval) MSIMLH1 protein expressionMSH2 protein expressionMSH6 protein expressionPMS2 protein expressionBRAF V600E mutation status BRAF V600E mutation testing methodMLH1 methylationMLH1 methylation testing methodsReference/Pubmed ID
Reference/Pubmed ID
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Example_1person_123MaleBethesdaFamily HistorySEQ MLH1,MSH2, MSH6,PMS22008MSH2c.1046C>Tp.Pro349ArgD12.6 AdenomaunknownMSH2-
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Example_2person_124MaleBethesdaIHCSEQ MLH1,MSH2,MSH62008MSH2c.1046C>Tp.Pro349ArgC18.4Malignant neoplasm of transverse colon35,6MSI-HNegative
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Example_3person_125MaleBethesdaFamily HistorySEQ 7,82006MSH2c.1046C>Tp.Pro349ArgC18.4Malignant neoplasm of transverse colon30,2MSI-HLoss
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Example_4person_126FemaleBethesdaMSISEQ MLH1Yes2006MLH1c.2027T>Gp.Leu676ArgMalignant neoplasm of transverse colon27MSI-H0%
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Example_5person_127MaleBethesdaFamily HistorySEQ MLH1,MSH2,MSH62006MLH1c.203T>Ap.Ile68AsnMalignant neoplasm of ascending colon38MSI-H>10%/positive
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Example_6person_128MaleAmsterdam CriteriaMSISEQ MLH1,MSH2,MSH6,PMS22009MLH1:c.1046C>T + MSH2:c.123A>G
MLH1:p.Pro349Arg + MSH2:p.Val41Pro
Malignant neoplasm of descending colon44,6>0-1%>0-1%
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Example_6person_128MaleAmsterdam CriteriaMSISEQ MLH1,MSH2,MSH6,PMS22009MLH1:c.1046C>T + MSH2:c.123A>G
MLH1:p.Pro349Arg + MSH2:p.Val41Pro
Malignant neoplasm of caecum52,3MSI-H
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Example_6person_128MaleAM IMSISEQ MLH1,MSH2,MSH6,PMS22009MLH1:c.1046C>T + MSH2:c.123A>G
MLH1:p.Pro349Arg + MSH2:p.Val41Pro
Malignant neoplasm of transverse colon56,8>0-1%
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Example_7person_129MaleNoneCoincidental finding in gene panel testingNGS100 gene panel2016MSH2c.1046C>Tp.Pro349ArgC20Malignant neoplasm of rectum35,5MSS
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Example_8person_130FemaleNoneUnexpected finding in whole exome sequencingPTT whole exome2010MLH1c.74T>Cp.Ile25ThrD12.6 Adenomaunknown>10%/positive
>10%/positive
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Example_9person_131MaleNoneSecondary finding in whole genome sequencingSEQ whole genome2010MSH2c.1004C>Tp.Thr335IleC18.2Malignant neoplasm of ascending colon45MSI-H0
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Example_10
person_132FemaleAm IIFamily HistorySEQ MLH1,MSH2,MSH6,PMS22008MSH2c.222delAp.Arg74Glufsx7CRC20
café-au-lait spots
Loss
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Example_10
person_132FemaleAm IIFamily HistorySEQ MLH1,MSH2,MSH6,PMS22008MSH2c.123A>Gp.Val41Pro Endometrial30
café-au-lait spots
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Example_10
person_132FemaleAm IIFamily HistorySEQ MLH1,MSH2,MSH6,PMS22008MSH2c.222delAp.Arg74Glufsx7CRC20
café-au-lait spots
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Example_10
person_132FemaleAm IIFamily HistorySEQ MLH1,MSH2,MSH6,PMS22008MSH2c.123A>Gp.Val41Pro Endometrial30
café-au-lait spots
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