Table 2. Characteristics of t-MN patients carriers of FANC variants.
UPN | Primary tumor, age | t-MN latency, karyotype | Gene symbol and AA change | NCBI rs and/or COSMIC numbers | Control tissue |
---|---|---|---|---|---|
6531 | Breast, 57 years | 72 months, del5q31 | FANCA L6F | rs189841793 | Breast cancer and normal breast tissue |
3155 | NHL, 69 years | 66 months, complex | FANCA S90T | Novel | NHL biopsy |
5993 | HL, thyroid, 52 years | 48 months, Del7 | FANCD2 T1376A | Novel | HL biopsy and normal lymphnode |
6190 | HL, 47 years | 208 months, Trisomy 8 | FANCD2 P256S | Novel | Buccal swab and hair follicle |
6828 | HL, 60 years | 112 months, n.a. | FANCD2 M1023V; | Novel | HL biopsy |
2885 | Breast/ adrenal, na | na | FANCJ I364V FANCC L36F | Novel | Not available |
Abbreviations: HL, Hodgkin lymphoma; NHL, Non-Hodgkin lymphoma; t-MN, therapy-related myeloid neoplasms. NCBI and Cosmic database variant number and the reported frequency is indicated.