Founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent

 Blogger's Note: study included major ovarian cancer cell types/LMP

open access

PALB2 c.2323C>T [p.Q775X]

Conclusion

The PALB2 c.2323C>T [p. Q775X] mutation confers increased risk for breast cancer in the French Canadian population of Quebec. The contribution of PALB2 c.2323C>T [p. Q775X] to the causation of breast cancer in French-Canadians appears to be lesser than that attributable to the most common founder alleles in BRCA1 and BRCA2, but the young age at diagnoses and associated familial history of breast cancer suggest that this variant should be added to the panel of deleterious mutations screened for assessing breast cancer risk in this unique population. Indeed during the preparation of this manuscript another PALB2 carrier harboring the p.Q775X variant was identified in the Hereditary Cancer Clinics affiliated with McGill University Health Centre. The carrier had bilateral breast cancer at ages 34 and 42 years and a strong family history of breast cancer further supporting the notion that PALB2 p.Q775X carriers are at increased risk for breast cancer.