Table III.
Mismatch repair status and genetic mutations present in this group of early-onset nonpolyposis colorectal cancers.
| A, Family history of CRC | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Case no. | MMR expressiona | Gene 1 | Mutation 1 | Gene 2 | Mutation 2 | Gene 3 | Mutation 3 | Gene 4 | Mutation 4 |
| C1 | MSH2(−) | PIK3CA | p.E545G | ||||||
| C2 | MLH1(−), PMS2(−) | KRAS | p.G12D | PIK3CA | p.H1047R | KIT | p.L682fs | DDR2 | p.V797F |
| C3 | MSH2(−), MSH6(−) | KRAS | p.G13D | ||||||
| C4 | MSH2(−), MSH6(−) | ERBB2 | p.V777M | KRAS | p.G12D | ||||
| C5 | MSH2(−), MSH6(−) | PIK3CA | p.H1047R | ||||||
| C6 | MSH2(−) | PIK3CA | p.H1047Y | DNMT3A | p.R882H | DNMT3A | p.A741V | DNMT3A | p.A572G |
| C7 | PMS2(−) | KRAS | p.G13D | BRAF | p.V600E | ||||
| C8 | MSH2(−), MSH6(−) | PIK3CA | p.E545K | ||||||
| C9 | MSH2(−), MSH6(−) | WT | |||||||
| B, Family history of other cancer types | |||||||||
| Case no. | MMR expressiona | Gene 1 | Mutation 1 | ||||||
| C10 | MLH1(−), PMS2(−) | WT | |||||||
| C11 | (+) | WT | |||||||
| C12 | (+) | ERBB2 | p.C805S | ||||||
| C13 | (+) | PIK3CA | p.E545K | ||||||
| C14 | (+) | WT | |||||||
| C15 | (+) | DDR2 | p.V797L | ||||||
| C, No family history of cancer | |||||||||
| Case no. | MMR expressiona | Gene 1 | Mutation 1 | Gene 2 | Mutation 2 | ||||
| C16 | MSH2(−) | KRAS | p.G12D | ||||||
| C17 | (+) | WT | |||||||
| C18 | (+) | WT | |||||||
| C19 | (+) | WT | |||||||
| C20 | (+) | NRAS | p.G12D | ||||||
| C21 | (+) | ABL1 | p.V323F | ||||||
| C22 | (+) | WT | |||||||
| C23 | (+) | WT | |||||||
| C24 | (+) | KRAS | p.G12D | ||||||
| C25 | (+) | KRAS | p.G13D | PIK3CA | p.E545K | ||||
| C26 | (+) | WT | |||||||
| C27 | (+) | BRAF | p.V600E | ||||||
| C28 | (+) | KRAS | p.Q61L | ||||||
| C29 | (+) | KRAS | p.G12V | ||||||
| C30 | (+) | KRAS | p.G12D | ||||||
| C31 | (+) | PIK3CA | p.T1025S | ||||||
| C32 | (+) | WT | |||||||
| C33 | (+) | KRAS | p.G12D | ||||||
| C34 | (+) | WT | |||||||
| C35 | (+) | WT | |||||||
| C36 | (+) | WT | |||||||
| C37 | (+) | KRAS | p.G12V | ||||||
| C38 | (+) | KRAS | p.G12V | ||||||
| C39 | (+) | TSC1 | p.Q654E | ||||||
| C40 | (+) | KRAS | p.G12V | ||||||
(+) indicates that the four tested MMR proteins (MLH1, MSH2, MSH6, PMS2) are positive; protein of negative expression are listed. The order of gene mutation is listed by the read number of each mutation. MMR, mismatch repair; CRC, colorectal cancer; WT, wild-type; KRAS, KRAS proto-oncogene, GTPase; NRAS, NRAS proto-oncogene; BRAF, B-Raf proto-oncogene, serine/threonine kinase; PIK3CA, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha; KIT, KIT proto-oncogene, receptor tyrosine kinase; ERBB2, erb-b2 receptor tyrosine kinase 2; DDR2, discoidin domain receptor tyrosine kinase 2; GTPase; TSC1, TSC complex subunit 1; DNMT3A, DNA methyltransferase 3 alpha; ABL1, ABL proto-oncogene 1.