PALB2 mutation carriers: Are clinicians acting on the molecular diagnosis?

Abstract

e13121Background: PALB2 is a frequently mutated hereditary breast and ovarian cancer gene. Recent studies have demonstrated up to a 58% lifetime risk for breast cancer with increased risks for pancreatic and other cancers. However, the precise risks and recommendations for management in PALB2 mutation carriers (PALB2+) are not well established. The National Comprehensive Cancer Network guidelines include breast MRI surveillance for female PALB2+, but comment on prophylactic surgeries is vague and other cancer screening is not mentioned. This study aimed to provide preliminary data on how clinicians manage cancer risks in PALB2+. Methods: 156 patients with a PALB2 mutation were identified from a clinical diagnostic laboratory from Aug 2012 to Sept 2015. Clinicians with ≥ 2 PALB2+ were invited to participate by completing a survey on the impact the molecular diagnosis had on management for their patient. Results: Of 19 females and 1 male, 70% (n = 14) had a history of breast cancer only and 15% (n = 3) had ...