Table 2.
P. | G. | Age 1 | Gender | Referral Criteria | Personal History of Other Cancer | Family History of Cancer * | IHC-MMR | GeneticsTechnique | Gene Affected (Pathogenic Variant) | Hereditary Syndrome |
---|---|---|---|---|---|---|---|---|---|---|
1 | GC | 75 | Female | GC+ other | Endometrium | No | MSH2/MSH6 | Single-gene testing | MSH2 (c.602dupT p.Leu201Phe*31) | Lynch S |
2 | GC | 55 | Female | Family history | Breast | No | Undone | Multigen panel | ATM (c.4507C>T (p.Gln1503Ter)) | ATM |
3 | GC | 35 | Female | Family history | Endometrium | Yes (pancreas and breast) | Undone | Multigen panel | ATM (c.2921+1G>A. 19 intron) | ATM |
4 | GC | 41 | Male | GC ≤ 60 years | No | No | Undone | Multigen panel | CDH1 (c.220C>T (p.Arg74 *)) | HDGC |
5 | GC | 38 | Male | GC ≤ 60 years | No | No | Undone | Multigen panel | CDH1 c.2164+5G>C) | HDGC |
6 | GC | 49 | Female | GC ≤ 60 years | Breast | Yes (breast) | MMR+ | Single-gene testing | BRCA2 (c.3166 C>T)) | HBOC |
7 | GC | 34 | Male | GC ≤ 60 years | No | Yes (breast and colon) | MMR+ | Multigen panel | TP53 (c.365_366delTG (p.Val122AspfsTer26)) | Li-Fraumeni S |
8 | PC | 45 | Female | Family history | No | Yes (Breast, stomach) | Undone | Directed | BRCA2 c.3264dupT (p. (Gln1089Serfs*10), | HBOC |
9 | PC | 33 | Male | PC ≤ 60 years | No | Yes (breast) | Undone | Multigen panel | ATM (c.6711_6715delGGAAA (p.Lys2237Asnfs*10) | ATM |
10 | PC | 33 | Male | PC ≤ 60 years | No | Yes (breast) | Undone | Multigene panel | PALB2 (c.3483delT; p. (Phe1161Leufs*2)) | HBOC |
* Only hereditary syndrome-associated tumors are mentioned. P., patient; G., group; IHC-MMR, Immunohistochemical analysis of DNA repair proteins; GC, gastric cancer; PC, pancreatic cancer; MMR+, normal protein expression of DNA repair proteins; HC, hereditary cancer; HBOC, hereditary breast-ovarian cancer syndrome; S., Syndrome. 1 If no personal history of GC or PC, the age corresponds to the youngest relative.