Table 1.
Key characteristics detailed in publications on preimplantation genetic testing for monogenic disorders for hereditary predisposition to cancer diseases.
| Name | Inheritance cancer syndrome | Mechanism of cancer | Variant | Name of the disease | Reference |
|---|---|---|---|---|---|
| MEN2 | Autosomal dominant | Germline pathogenic variants of the RET proto-oncogene | C.1858T > C, P.C620R germline variant |
MTC, parathyroid tumors, and pheochromocytoma and Hirschsprung's disease | Würgler et al.11 |
| MEN1 | Autosomal dominant | Associated with germline and somatic inactivating mutations in the MEN1 gene | Chromosome 11q13, encodes the 610 amino acid protein menin | Tumors in multiple endocrine tissues | Lima et al.13 |
| HBOC | Autosomal dominant | BRCA2; BRCA1 gene pathogenic variant | C.7436_7805del [GenBank U43746]); BRCA1 pathogenic variant carrier (5273G[A In exon 19) | Breast cancer, ovarian cancer, pancreatic cancer, and prostate cancer | Lee et al.22 and Ramón et al.27 |
| FAP | Autosomal dominant | Truncating germline pathogenic variants in the APC gene | APC gene, C.532-8G > A (NG_008481:G93262g > A); an AGTT deletion pathogenic variant in exon 15 of the APC gene | FAP is hundreds or even thousands of polyps growing in the gastrointestinal tract, primarily in the colon | Lee et al.22 and Davis et al.28 |
| RB1 | Autosomal dominant | Caused by pathogenic variants in the RB1 gene | Single base pair substitution at the 5′ end of intron 12 (splice site pathogenic variant) of the RB gene (1353 + 1G→A). Normal GT splice consensus sequence following exon 12 is changed by this G→A transition pathogenic variant | Retinoblastoma: malignant tumor of the retina | Xu et al.7 |
| LS; also known as HNPCC | Autosomal dominant | Germline pathogenic variants in DNA MMR genes: MLH1, MSH2, MSH6, EPCAM, and PMS2 genes |
Hmsh2 (homolog of the prokaryotic DNA MMR gene muts) And Hmlhl, Hpmsl, and Hpms2 (all homologs of the prokaryotic DNA MMR gene mutl). Pathogenic variants in each of the four genes have been found in the germline cells of HNPCC families | CRC | Marra et al.29 and Dewanwala et al.30 |
| LFS | Autosomal dominant | Heterozygous pathogenic variants in the P53 gene | Germline pathogenic variants in the P53 gene on chromosome 17p13.1 | Osteosarcoma, breast cancer, brain neoplasm, leukemia, and adrenal tumors. inheritance | Ilic et al.31 |
| NF2 | Autosomal dominant | Pathogenic variants in the NF2 gene | Single base pair substitution in the NF2 gene. G/C substitution at nucleotide 8240. NF2 gene on chromosome 22q12.2 |
Development of histologically benign tumors in the CNS. These include unilateral vestibular schwannoma | Abou-Sleiman et al.32 |
| NF1 | Autosomal dominant | Nonsense pathogenic variant in the NF1 gene that changes the codon to a STOP codon | NF1 gene is located on chromosome 17q11.2. NF1c.4495C > T (NM_000267) | Young patient with typical neurofibromatosis type 1 diagnosed with a unilateral vestibular schwannoma | Lee et al.22 and Huq et al.33 |
APC: Adenomatous polyposis coli; CNS: Central nervous system; CRC: Colorectal cancer; FAP: Familial adenomatous polyposis; HBOC: Hereditary breast and ovarian cancer; HNPCC: Hereditary nonpolyposis colorectal cancer; LFS: Li-Fraumeni syndrome; LS: Lynch syndrome; MEN1: Multiple endocrine neoplasia type 1; MEN2: Multiple endocrine neoplasia type 2; MMR: Mismatch repair; MTC: Medullary thyroid cancer; NF1: Neurofibromatosis type 1; NF2: Neurofibromatosis type 2; RB1: Retinoblastoma; RET: Rearranged during transfection.