As of February 2024, 436 individuals who have undergone genetic testing are registered in the Mid-West Japan Hereditary Tumor Cohort. This cohort includes individuals with various hereditary tumor syndromes, including Hereditary Breast and Ovarian Cancer Syndrome and Lynch Syndrome (see Table 1). The registered variants include Pathogenic/Likely Pathogenic variants and Variants of Uncertain Significance (VUS), which are available for novel pathogenicity research using in vivo, in vitro, and in silico methods.
| Hereditary Tumor Syndrome | Gene |
|---|---|
| Familial Adenomatous Polyposis | APC |
| Hereditary Breast and/or Ovarian Cancer | ATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MRE11A, NBN, RAD51C, RAD51D, PALB2 |
| Hereditary Diffuse Gastric Cancer | CDH1 |
| Hereditary Papillary Renal Cell Carcinoma | FH |
| Birt-Hogg-Dube Syndrome | FLCN |
| Multiple Endocrine Neoplasia Type 1（MEN1） | MEN1 |
| Multiple Endocrine Neoplasia Type 2（MEN2） | RET |
| Lynch syndrome | MLH1, MSH2, MSH6, PMS2, EPCAM |
| MUTYH-associated polyposis | MUTYH |
| Neurofibromatosis Type 1 | NF1 |
| Polymerase Proofreading-Associated Polyposis | POLD1, POLE |
| PTEN Hamartoma Tumor Syndrome | PTEN |
| Retinoblastoma | RB1 |
| Multiple Endocrine Neoplasia Type 2 | RET |
| Juvenile Polyposis Syndrome | SMAD4 |
| Peutz-Jeghers Syndrome | STK11 |
| Li-Fraumeni Syndrome | TP53 |
| Tuberous Sclerosis Complex | TSC2 |
| Von Hippel-Lindau disease | VHL |
Table1 Registered Hereditary Tumor Syndromes
