Cancers in families of FANCD1/BRCA2 Probands
| Patient ID | Maternal allele* | Maternal cancers | Paternal allele* | Paternal cancers | Reference |
|---|---|---|---|---|---|
| *Maternal and paternal columns refer to the parents of the proband; (paternal) or (maternal) in parentheses refer to the lineage in relation to the mother or father. For example, grandaunt (paternal) refers to the mother’s father’s sister. | |||||
| †Reference does not identify segregation of maternal versus paternal alleles. | |||||
| ‡Benign. | |||||
| §Unknown. Alleles that are known to be deleterious or probably deleterious are not indicated with a superscript. Note that cases 1A and 1B are related (see legend to table 1). | |||||
| 1A | 6174delT | Breast: grandaunt (paternal) 76; colon: grandaunt (paternal) | 9435T→A [C3069X] | Breast: grandmother 65; melanoma: granduncle (maternal) | 16 |
| 1B | 6174delT | Breast: aunt 58, grandaunt (maternal) 70s; breast and lung: grandaunt (maternal) | 9435T→A [C3069X] | Prostate: father 65, grandfather 70s | |
| K1 | 8447T→A [L2740X] | No information available for maternal family | 886–887delGT | Breast: great grandmother (paternal) 90s; colorectal: great grandfather (paternal) 50s; renal: grandmother 63; skin of lip: grandfather 50s, unknown: great grandfather (maternal) 80s | 19 |
| K2 | 4876G→T† [E1550X] | Colorectal: great grandmother (maternal) 60s | 7757T→C†§ [L2510P] | Prostate: grandfather 70s | |
| 129/1 | IVS7+2T→G | Breast: aunt 45, pancreas: uncle 51 | IVS7+2T→G | Breast: grandmother 40 | 20 |
| 357/1 | 2041insA | Breast: grandmother 46, great grandmother 46, great grandaunt 45;Prostate: grandfather 48; bladder:great grandfather 51 | 8106G→C [W2626C]‡ | No cancer reported | |
| 632/1 | 5910C→G [Y1894X] | Breast: mother 38;male breast: grandfather 60 | IVS7+1G→A | Breast: grandmother 48 | |
| 800/1 | 5164del4 | Brain: great grandfather 50 | IVS7+2T→G | No cancer reported | |
| 900/1 | 1342C→A [N372H]‡ | Breast: grandmother 29 | 2816insA | No cancer reported | |
| RB | 5873C→A [S1882X] | Breast: mother 45 | 886delTG | Breast: aunt 48 | 22 |
| SB1690CB | IVS7+2T→G† | Breast: aunt 40s, grandmother 70s | 3827delGT* | No cancer reported | 23 |
| NCI 1 | 6174delT | Breast: (maternal) grandaunt 42, (paternal) grandaunt 58, 7 other paternal relatives 35, 41, 51, 50s, 50s, 55, age unknown; other paternal relatives with cancer: males—Wilms’: 6§; bladder: 50s; unknown in 2 individuals; females—Leukaemia: 20s; uterus: great grandmother; unknown: 1 individual | 9424C→T [Q3066X] | Breast: (maternal) great grandmother 51; voice box: (paternal) great grandfather age unknown | Current report |