Mutation analysis of PALB2 in BRCA1 and BRCA2 -negative breast and/or ovarian cancer families from Eastern Ontario, Canada

Conclusions PALB2 mutation screening identifies a small, but significant number of mutations in BRCA1/2 -negative breast and/or ovarian cancer families. We show that mutations are more likely to be found in families with three or more breast cancers as well as other BRCA2-related cancers. In our cohort, both clearly pathogenic mutations were identified in premenopausal breast cancer cases (2/77, 2.6%). Testing should be preferentially offered to affected women from such families.

http://link.springer.com/10.1186/1897-4287-12-19

Source: Hereditary Cancer in Clinical Practice - August 28, 2014 Category: Cancer & Oncology Source Type: research