Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing

Conclusions Our data show that a clinically important proportion of PALB2 pathogenic mutations in Australian patients with familial breast cancer are LGRs. Such observations have provided strong support for inclusion of PALB2 LGRs in routine clinical genetic testing.

http://jmg.bmj.com/cgi/content/short/60/2/112?rss=1

Source: Journal of Medical Genetics - January 24, 2023 Category: Genetics & Stem Cells Authors: Li, N., Zethoven, M., McInerny, S., Healey, E., DeSilva, D., Devereux, L., Scott, R. J., James, P. A., Campbell, I. G. Tags: Cancer genetics Source Type: research