China Oncology ›› 2022, Vol. 32 ›› Issue (11): 1037-1043.doi: 10.19401/j.cnki.1007-3639.2022.11.001
• Specialists' Commentary • Previous Articles Next Articles
CAO Xianling1,2(), ZHOU Xuanyou1,2, CHEN Songchang1,2, HUANG Hefeng1,2, XU Chenming1,2()
Received:
2022-10-15
Revised:
2022-11-15
Online:
2022-11-30
Published:
2022-12-14
Contact:
XU Chenming
CLC Number:
CAO Xianling, ZHOU Xuanyou, CHEN Songchang, HUANG Hefeng, XU Chenming. Progress in the application of PGT in hereditary tumors[J]. China Oncology, 2022, 32(11): 1037-1043.
Tab. 1
Common cancer syndromes and their susceptibility genes and phenotypic characteristics"
Syndrome | Gene | Phenotypic features |
---|---|---|
HBOC1 | BRCA1 | Female breast, ovarian and colorectal cancer |
HBOC2 | BRCA2 | Male and female breast, ovarian, prostate and pancreatic cancer |
FAP | APC/CHRPE | Multiple colorectal and upper gastrointestinal adenomatous polyps, fibroma, epidermoid cyst |
Hereditary non-polyposis colorectal cancer | MLH1, MSH2, MSH6, PMS2, PMS1 | Colorectal, endometrial, ovarian, gastric, urinary and brain cancers |
MEN1 | MEN1 | Pancreatic tumor, facial angiofibroma, gastrinoma, collagenoma, insulinoma and anterior pituitary tumor |
MEN2 | RET | Medullary thyroid carcinoma, parathyroid carcinoma, pheochromocytoma |
Li-Fraumeni syndrome | TP53 | Breast cancer, soft tissue sarcoma, osteosarcoma, brain tumor, acute leukemia, adrenocortical carcinoma, lung adenocarcinoma, colon cancer, pancreatic cancer, prostate cancer, nephroblastoma and phyllodes tumor |
Von Hippel-Lindau syndrome | VHL | Pheochromocytoma, hemangioblastoma, high renal cell tumor, pancreatic carcinoma and ampullary paraganglioma adenocarcinoma |
Peutz-Jeghers syndrome | STK11 | Hamartomatous intestinal polyps, lung cancer, breast cancer, urinary tract cancer, perioral and buccal mucosal pigmentation |
Hereditary diffuse gastric cancer | CDH1 | Diffuse gastric cancer, lobular breast cancer |
Familial RB | RB1 | Primary eye cancer |
Familial melanoma | CDKN2A (p16) | Melanoma |
Fanconi anemia | FANC (A, B, C, D1, D2, E, F, G, I, J, L, M, N), FANCD1/BRCA2, FANCJ/BACH1/BRIP1, FANCN/PALB2 | Acute myeloid leukaemia |
LS | PMS1, MLH1, MSH2, MSH and PMS2 | Cancers of ovary, small intestine, brain and skin |
Neurofibromatosis type 1 | NF1 | Optic nerve glioma, meningioma, hypothalamic tumor, neurofibrosarcoma, rhabdomyosarcoma; Duodenal carcinoid, somatostatinoma, parathyroid adenoma, pheochromocytoma, pilocytic astrocytoma, malignant peripheral nerve sheath tumors, tumors of several other parts of the body, including the central nervous system |
Neurofibromatosis type 2 | NF2 | Meningioma, glioma, vestibular schwannoma |
Tuberous sclerosis type 2 | TSC2 | Myocardial rhabdomyoma, multiple bilateral renal angiomyolipoma, ependymoma, renal carcinoma, giant cell astrocytoma; Benign tumors of the eye, heart, and lungs |
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