Table 1.
PALB2 mutation carrier phenotypes, ancestry, and demographics.
| Phenotypes in carriersa | |||||||
|---|---|---|---|---|---|---|---|
| Mutation | Family | # carriers | # female breast (age) |
# other cancers (age) |
# unaffected | Ancestry | Ascertainment center |
| c.1027C>T | BG149 | 1 | 1 | Italian, Bergamo | AVIS, Bergamo | ||
| c.1027C>T | BG363 | 1 | 1 | Italian, Bergamo | AVIS, Bergamo | ||
| c.1027C>T | BG02 | 1 | 1 (35) | Italian, Bergamo | Ospedale Papa Giovanni XXIII, Bergamo | ||
| c.1027C>T | BG03 | 1 | 1 (45) | Italian, Bergamo | Ospedale Papa Giovanni XXIII, Bergamo | ||
| c.1027C>T | BG04 | 4a | 1 (57) | 3 | Italian, Bergamo | Ospedale Papa Giovanni XXIII, Bergamo | |
| c.1027C>T | BG05 | 1 | 1 (37) | Italian, Bergamo | Ospedale Papa Giovanni XXIII, Bergamo | ||
| c.1027C>T | BG06 | 1 | 1 (35) | Italian, Bergamo | Ospedale Papa Giovanni XXIII, Bergamo | ||
| c.1027C>T | MI04 | 2 | 1 (37) | 1 | Italian, Bergamo | Istututo Nazionale dei Tumori, Milan | |
| c.1027C>T | MI06 | 2 | 1 (33) | 1 | Italian, Bergamo | Istututo Nazionale dei Tumori, Milan | |
| c.1027C>T | MI12/BG01 | 5a | 4 (29, 41, 42,67) | Lung (57) | 1 | Italian, Bergamo | Istututo Nazionale dei Tumori, Milan |
| c.2167delAT | MI03 | 2 | 2 (28, 45) | 1 | Italian, Marche | Istututo Nazionale dei Tumori, Milan | |
| c.2167delAT | CF1908 | 10a | 6 (36, 49, 49, 59, 62, 69) | Pancreatic (65) Prostate (65) |
2 | Italian-American | University of Washington, Seattle |
| c.2167delAT | CH7088 | 1 | 1 (42) | Hispanic | City of Hope, Los Angeles, CA | ||
| c.2167delAT | CH7777 | 1 | 1 (24) | Hispanic | City of Hope, Los Angeles, CA | ||
| c.2167delAT | CH8877 | 1 | 1 (43) | Hispanic | City of Hope, Los Angeles, CA | ||
| c.2167delAT | N286 | 1 | 1 (34) | Nigerian | Nigeria/University of Chicago, Chicago | ||
a
Includes obligate mutation carriers.