Clinical characteristics of breast cancer in women with a PALB2 mutation

World Congress on Breast Cancer

August 03-05, 2015 Birmingham, UK

Cezary Cybulski1, WojciechKlu�ºniak1, Tomasz Huzarski1, Dominika Woko��orczyk1, AnnirudhKashap1, AnnaJakubowska1, Marek Szwiec2, Tadeusz D��bniak1, BohdanG�³rski1, Victoria Sopik3, Mohammad Akbari3, Ping Sun3, Jacek Gronwald1, Steven A Narod3 and Jan Lubi��ski1

1Pomeranian Medical University, Poland 2Regional OncologyCenter, Poland 3Womens College Research Institute, Canada

Posters-Accepted Abstracts: J Cancer Sci Ther

Abstract :

Purpose: To estimate the lifetime risk of breast cancer in Polish women who carry a founder mutation in the PALB2 gene and to establish the clinical characteristics of breast cancers in patients with A Palb2 mutation. Patients and Methods: 12,529 breast cancer patients from Poland and 4,702 controls were genotyped for two deleterious mutations in PALB2 (c.509_510delGA and c.172_175delTTGT).Among breast cancer patients, the ten-year survival of carriers of a PALB2 mutation was calculated and compared with that of non-carriers. Results: A truncating PALB2 mutation was found in 116 breast cancer patients (0.93%) and in 10 controls (0.21%; OR=4.39; 95% CI=2.3 to 8.4; p<0.0001).The ten-year survival of women with breast cancer and a PALB2 mutation was 49%, compared to 76% for women without a mutation (HR for death=2.14; 95% CI=1.55 to 2.95; p<0.0001).Among the 2,065 patients who died, 38 women (1.8%) carried a PALB2 mutation. Conclusion: Women with a PALB2 mutation face increased risks of breast cancer and of death from breast cancer.Given the high incidence and case-fatality associated with mutations in this gene, preventive mastectomy should be discussed with unaffected women who are found to carry a PALB2 mutation.