Table 4.
Clinical characteristics and screening guidelines met in patients with two PGAs
| Gene | Nucleotide | Age, y | Sex | Stage | Family history | Guidelines met | Ethnicity |
|---|---|---|---|---|---|---|---|
| APC + CHEK2 | c.3920T>A (p.Ile1307Lys) + c.1283C>T (p.Ser428Phe) | 60–70 | Female | III | Colon, breast | NCCN HBOC, ACMG (HBOC) | Ashkenazi Jewish |
| BRCA2 + CHEK2 | c.5946delT (p.Ser1982Argfs*22) + c.1283C>T (p.Ser428Phe) | 45–60 | Male | IV | Prostate, breast | NCCN HBOC, ACMG (HBOC) | Ashkenazi Jewish |
| BRCA2 + CHEK2 | c.9148C>T (p.Gln3050*) + c.1283C>T (p.Ser428Phe) | 60–70 | Female | I/II | Breast | NCCN HBOC, ACMG (HBOC) | White |
| BRCA2 + APC | c.5946delT (p.Ser1982Argfs*22) + c.3920T>A (p.Ile1307Lys) | 60–70 | Male | IV | Breast, Pancreas, Ovary | NCCN HBOC, ACMG (HBOC, FPC, LS) | Ashkenazi Jewish |
| BRCA2 + PMS2 | c.6468_6469del (p.Gln2157Ilefs*18) + c.1831delinsTT (p.Ile611Phefs*2) | 70–80 | Male | I/II | Bladder | N | White |
| FAM175 A+ MUTYH† | c.442C>T (p.Arg148*) + -c.1187G>A (p.Gly396Asp) | 56–60 | Male | III | Pancreas, Breast, Ovary | NCCN HBOC, ACMG (HBOC, FPC, LS) | White |
| BRCA1 + CHEK2 | c.68_69delAG (p.Glu23Valfs*17) + c.1283C>T (p.Ser428Phe) | >80 | Male | IV | Y | ACMG (FPC, HBOC), NCCN HBOC | Ashkenazi Jewish |
| BRCA1 + BLM | c.68_69delAG (p.Glu23Valfs*17)+ c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs*5) | 51–55 | Female | I/II | Y | ACMG (FPC, HBOC), NCCN HBOC | Ashkenazi Jewish |
| PMS2+ CHEK2 | c.1076dupT (p.Leu359Phefs*6)+ c.1283C>T (p.Ser428Phe) | 60–70 | Female | IV | Y | N | White |
†
FAM175A Transcript (NM_139076). ACMG = American College of Medical Genetics and Genomics; FPC = familial pancreatic cancer; HBOC = hereditary breast ovary cancer; LS = Lynch syndrome; NCCN = The National Comprehensive Cancer Network; PGA = pathogenic germline alteration.