Table 1

Description of patients with MINAS identified

IDPhenotypeTumour/conditionAge DxCurrent age (β)/death (£)Mutation A*Mutation B*
Fam-1AFAPColorectal polyposis7677 (£)APC [c.423-3T>A; p.(Arg141Serfs*8)]BRCA1 [c.1961delA; p.(Lys654Serfs*47)]
Fam-2
(proband)
MEN1Neuroendocrine tumour4145 (β)MLH1 [c.244A>G; p.(Thr82Ala)]MEN1 (c.784-9G>A; p.[Lys267Valfs*28,Arg280Serfs*2])
Pituitary adenoma36
Parathyroid 39
Hyperplasia29
Hepatic haemangiomas
Fam-2
(sister)
HNPCC, MEN1Uterine carcinoma4152 (β)MLH1 [c.244A>G; p.(Thr82Ala)]MEN1 (c.784-9G>A; p.[Lys267Valfs*28,Arg280Serfs*2])
Colorectal cancer48
Haemangiomas45
Hyperparathyroidism45
Fam-3HBOCOvarian cancer4551 (β)BRCA1 [c.607C>T; p.(Arg1203*)]TP53 [c.659A>G; p.(Tyr220Cys)]
Fam-4Tuberous sclerosisSubcutaneous benign tumours
Epilepsy
628 (β)TSC2 [c.5227C>T; p.(Arg1743Trp)]RAD51D [c.694C>T; p.(Arg232*)]
Fam-5Reed’s syndromeCutaneous leiomyomas4047 (β)FH (c.905-2A>G; p.?)BARD1 [c.157delT; p.(Cys53Valfs*5)]
Fam-6AFAPColorectal polyposis
Colorectal cancer
52
53
55 (β)APC [c.5826_5829del; p.(Asp1942Glufs*27)]EXO1 [c.1900C>T; p.(Arg634*)]
Fam-7
(proband)
HBOCOvarian cancer5152 (β)BRCA1 [c.2309C>A; p.(Ser770*)]XPA [c.553C>T; p.(Gln185*)]
Fam-7
(sister)
HBOCOvarian cancer3738 (β)BRCA1 [c.2309C>A; p.(Ser770*)]XPA [c.553C>T; p.(Gln185*)]
Fam-8HBOC
Birt-Hogg-Dubé
Ovarian cancer
Pneumothorax (×5)
66
33
68 (β)FLCN [c.346C>T;p.(Gln116*)]ERCC3 [c.325C>T;p.(Arg109*)]
Fam-9HBOCBreast cancer
Pancreatic cancer
54
59
59 (β)PALB2 [c.3256 C>T; p.(Arg1086*)ATM (c.3802delG;p.Val1268*)
Fam-10†HBOCBilateral breast cancer3537 (β)CHEK2 (c.433C>T; p.(Arg145Trp)]CHEK2 [c.470T>C; p.(Ile157Thr)]
Fam-11†HBOCBreast cancer4242 (£)CHEK2 (whole gene deletion)CHEK2 [c.499G>A; p.(Gly167Arg)]
Fam-12HBOCBreast cancer3538 (β)ATM [c.3712_3716del; p.(Leu1238Lysfs*6)]FANCA (c.2602-1G>C; p.?)
Fam-13HBOCOvarian cancer4970 (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.