Table 1.
Description of patients with MINAS identified
| ID | Phenotype | Tumour/condition | Age Dx | Current age (β)/death (£) | Mutation A* | Mutation B* |
| Fam-1 | AFAP | Colorectal polyposis | 76 | 77 (£) | APC [c.423-3T>A; p.(Arg141Serfs*8)] | BRCA1 [c.1961delA; p.(Lys654Serfs*47)] |
| Fam-2 (proband) |
MEN1 | Neuroendocrine tumour | 41 | 45 (β) | MLH1 [c.244A>G; p.(Thr82Ala)] | MEN1 (c.784-9G>A; p.[Lys267Valfs*28,Arg280Serfs*2]) |
| Pituitary adenoma | 36 | |||||
| Parathyroid | 39 | |||||
| Hyperplasia | 29 | |||||
| Hepatic haemangiomas | ||||||
| Fam-2 (sister) |
HNPCC, MEN1 | Uterine carcinoma | 41 | 52 (β) | MLH1 [c.244A>G; p.(Thr82Ala)] | MEN1 (c.784-9G>A; p.[Lys267Valfs*28,Arg280Serfs*2]) |
| Colorectal cancer | 48 | |||||
| Haemangiomas | 45 | |||||
| Hyperparathyroidism | 45 | |||||
| Fam-3 | HBOC | Ovarian cancer | 45 | 51 (β) | BRCA1 [c.607C>T; p.(Arg1203*)] | TP53 [c.659A>G; p.(Tyr220Cys)] |
| Fam-4 | Tuberous sclerosis | Subcutaneous benign tumours Epilepsy |
6 | 28 (β) | TSC2 [c.5227C>T; p.(Arg1743Trp)] | RAD51D [c.694C>T; p.(Arg232*)] |
| Fam-5 | Reed’s syndrome | Cutaneous leiomyomas | 40 | 47 (β) | FH (c.905-2A>G; p.?) | BARD1 [c.157delT; p.(Cys53Valfs*5)] |
| Fam-6 | AFAP | Colorectal polyposis Colorectal cancer |
52 53 |
55 (β) | APC [c.5826_5829del; p.(Asp1942Glufs*27)] | EXO1 [c.1900C>T; p.(Arg634*)] |
| Fam-7 (proband) |
HBOC | Ovarian cancer | 51 | 52 (β) | BRCA1 [c.2309C>A; p.(Ser770*)] | XPA [c.553C>T; p.(Gln185*)] |
| Fam-7 (sister) |
HBOC | Ovarian cancer | 37 | 38 (β) | BRCA1 [c.2309C>A; p.(Ser770*)] | XPA [c.553C>T; p.(Gln185*)] |
| Fam-8 | HBOC Birt-Hogg-Dubé |
Ovarian cancer Pneumothorax (×5) |
66 33 |
68 (β) | FLCN [c.346C>T;p.(Gln116*)] | ERCC3 [c.325C>T;p.(Arg109*)] |
| Fam-9 | HBOC | Breast cancer Pancreatic cancer |
54 59 |
59 (β) | PALB2 [c.3256 C>T; p.(Arg1086*) | ATM (c.3802delG;p.Val1268*) |
| Fam-10† | HBOC | Bilateral breast cancer | 35 | 37 (β) | CHEK2 (c.433C>T; p.(Arg145Trp)] | CHEK2 [c.470T>C; p.(Ile157Thr)] |
| Fam-11† | HBOC | Breast cancer | 42 | 42 (£) | CHEK2 (whole gene deletion) | CHEK2 [c.499G>A; p.(Gly167Arg)] |
| Fam-12 | HBOC | Breast cancer | 35 | 38 (β) | ATM [c.3712_3716del; p.(Leu1238Lysfs*6)] | FANCA (c.2602-1G>C; p.?) |
| Fam-13 | HBOC | Ovarian cancer | 49 | 70 (β) | SDHB [c.505C>T; p.(Gln169*)] | FANCA [c.3558dupG; p.(Arg1187Glufs*28)] |
*Cell shadow code: dark grey: high-risk genes, light grey: moderate to low-risk genes (see online supplementary table 1).
†These patients are compound heterozygous for mutations at the same time, therefore they do not strictly fulfil the MINAS first definition.
AFAP, attenuated familial adenomatous polyposis; HBOC, hereditary breast-ovarian cancer; HNPCC, hereditary non-polyposis colorectal cancer; MEN1, multiple endocrine neoplasia type 1; MINAS, multilocus inherited neoplasia alleles syndrome.