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. Author manuscript; available in PMC: 2021 Aug 19.
Published in final edited form as: Hum Mutat. 2020 Dec 25;42(3):223–236. doi: 10.1002/humu.24152

Table 3.

Point systems created for the specifications of the PS2 and PM6 criteria and TP53-associated cancers with different strength levels*

Strong LFS criteria
  • 2 points for each cancer in de novo individual when maternity and paternity are confirmed

  • 1 point for each cancer when parental testing is not available

  • Breast cancer (IDC & DCIS) <31 years of age

  • Choroid plexus carcinoma

  • Adrenocortical adenoma or carcinoma <18 years of age

  • Rhabdomyosarcoma <46 years of age

  • Osteosarcoma <46 years of age

  • Hypodiploid ALL (Specifically low-hypodiploid 32–39 chromosomes)

  • Sonic Hedgehog medulloblastoma

Moderate LFS criteria
  • 1 point for each cancer in de novo individual when maternity and paternity are confirmed

  • 0.5 point for each cancer when parental testing is not available

  • Breast cancer >30 and <50 years of age

  • Malignant brain tumors (excluding optic gliomas) <46 years of age

  • Primary lung cancer <46 years of age

  • Adrenocortical adenoma or carcinoma ≥18 and <50 years of age

  • Rhabdomyosarcoma or osteosarcoma >45 years of age

  • Other sarcomas (e.g., malignant phyllodes tumor, leiomyosarcoma, liposarcoma) <60 years of age
    • Exclude dermatofibrosarcoma & Ewing sarcoma
Total points required to assign the following rule codes
PM6_Supporting PS2_Moderate or PM6 PS2 or PM6_Strong PS2_VeryStrong or PM6_VeryStrong
0.5 1 2 4
*

If there are multiple reports of de novo probands, the points for each de novo observation can be summed. If the proband has multiple cancers, only the strongest associated LFS cancer should be used.