Table 2. Detailed description of the 14 families that at inclusion were identified as having criteria for more than one BCPS.
| Family ID | Criteria | Number of cancer diagnoses | Number of diagnoses confirmed ( 1 ) | Cancer-affected proband | Proband cancer site | Cancer diagnosed relatives (by site) |
|---|---|---|---|---|---|---|
| 6 | LFL (Birch/Eeles 1) + HBOC | 7 | 2 | Yes | Colon (F-40) | Breast (F-38, F-47, F-bil 39), CNS (F-38, M-50), lung (M-64) |
| 25 | LFL (Eeles 1) + HBCC | 9 | 1 | Yes | Colon (F-72) | Breast (F-60), colon (F-35, M-13), uterine (50), prostate (ND), pancreas (M-ND), esophageal (M- > 70) |
| 101 | LFL (Eeles 1/2) + HBOC | Mat = 3; Pat = 3 | 0 | No | NA | Mat= breast (F-38, F-46), gastric (M-70); |
| Pat= sarcoma (M-15), leukemia (M-49), gastric (F-ND) | ||||||
| 103 | LFL (Eeles 1) + HBCC | 8 | 1 | Yes | Breast Bil (F-65) | Breast (F-36, F-82), gynecologic (49), lung (F-ND), leukemia (M-ND), colon (M-ND), unknown (M-ND) |
| 186 ( 2 ) | LFL (Birch) + HBOC | 4 | 0 | No | NA | Breast (F-35, F-40, F-40), kidney (M-5) |
| 284 ( 3 ) | LFL (Eeles 1) + HBCC | 5 | 0 | Yes | Colon (F-71) | Breast (F-50), colon (F > 50), CNS (M > 70), gastric (M-41) |
| 439 | HBOC + HBCC | 6 | 2 | Yes | Breast Bil (F < 50) | Breast (F-bil39, F-70), uterine (> 30), colon (M-60), ovarian (70) |
| 442 | LFL (Eeles 1) + HBOC | 18 | 1 | Yes | gastric (F-39), ovarian (42) | Breast (F-15, F-40, F-21, F-ND, F-ND, F-ND, F-ND, F-ND, F-ND, F-ND), gastric (F-ND), prostate (ND), leukemia (M-48), kidney (F-ND), unknown (F-64, M-ND) |
| 520 | LFL (Birch) + HBOC | 9 | 5 | Yes | Breast Bil (F-42) | Breast (F-49, F-38, F < 52, F bil < 55), bone (M-31), esophageal (M-50), colon (F > 60), leukemia (M-8) |
| 552 ( 4 ) | LFL (Eeles 1) + HBOC + HBCC | Mat = 10; Pat = 2 | 1 | Yes | Breast (F-38) | Mat= Breast (F-36 F-62, F-25, F-ND), colon (M > 50, M < 48, M-ND), ovarian (ND), uterine (ND); |
| Pat= brain (M-ND), prostate (ND) | ||||||
| 554 | LFL (Eeles 1) + HBOC | 4 | 2 | Yes | Breast (F-44),melanoma (F-39) | Ovarian (63, 60) |
| 590 | LFL (Eeles 1) + HBOC | 8 | 3 | Yes | Breast (F-49) | Breast (F-53), thyroid (F-36), ovarian (28), gastric (F-40), throat (M-50), nose (F-ND), unknown (F-ND) |
| 681( 5 ) | HBOC + HBCC | 9 | 8 | Yes | Breast (F-52) | Lung (M-62), endometrial (64), uterine (41, < 50), breast (F < 50), colon (M-50, F-68), throat (M < 50) |
| 736 | LFL (Eeles 1) + HBOC | 10 | 0 | No | NA | pancreas (F-25, M-50), uterine (32, 49), ovarian (32, 49, 36), colon (F-40), breast bil (F-47), lung (F-60) |
Includes confirmation of cancer site and/or type by pathology reports, death certificates and/or review of medical records.
One of the cancer diagnoses was not confirmed, and therefore this family, although tested for TP53 mutations, does not fulfill criteria for LFL (Birch) as thought initially
One of the cancer diagnoses was not confirmed, and therefore this family, although tested for the CHEK2 1100delC mutation, does not fulfill criteria for HBCC as thought initially
Family meets criteria for HBOC and HBCC in the maternal side and for LFL (Eeles1 and 2) in the paternal lineage of the proband.
One of the cancer diagnoses was not confirmed, and therefore this family, although tested for BRCA1/2 mutations, does not fulfill criteria for HBOC as thought initially
Mat= maternal side; Pat= Paternal side; Bil=bilateral; F=female; M=male; CNS= central nervous system; ND= not determined. Bold cancer cases means diagnosis confirmed.