000 03834nam a22004217a 4500
008 240807s20222022 xxu||||| |||| 00| 0 eng d
022 _a2218-6778
024 _aPMC11093008 [pmc]
024 _atbcr-03-37 [pii]
040 _aOvid MEDLINE(R)
099 _a38751533
245 _aRisk-reducing surgery in PALB2 mutations carriers with breast cancer: a case series and literature review.
251 _aTranslational Breast Cancer Research : A Journal Focusing on Translational Research in Breast Cancer. 3:37, 2022.
252 _aTransl Breast Cancer Res. 3:37, 2022.
253 _aTranslational breast cancer research : a journal focusing on translational research in breast cancer
260 _c2022
260 _p2022
265 _sepublish
265 _tPubMed-not-MEDLINE
266 _d2024-08-07
266 _z2024/05/16 03:36
520 _aBackground: Inherited germline mutations in PALB2 are known to predispose patients to a higher risk of breast, ovarian and pancreatic cancer with an estimated risk of developing breast cancer in over half of all affected women by age 80 years. Current guidelines for screening patients with PALB2 mutations include annual mammograms beginning at age 30 years and consideration of breast magnetic resonance imaging (MRI) and tomosynthesis. Existing evidence regarding risk-reducing surgery with mastectomy is insufficient to make a definitive recommendation to patients. In this case series, we describe the presentation and management of 5 patients with unilateral breast cancer and PALB2 mutations. To our knowledge, this is the first reported case series discussing the role of contralateral risk-reducing mastectomy (CRRM) in breast cancer patients with PALB2 mutations. The aim of our study was to evaluate the challenges in managing breast cancer risk in patients with PALB2 pathogenic variants with illustration through real-world clinical cases and a review of the literature.
520 _aConclusions: Based on our experience and the currently available literature, CRRM in patients with a PALB2 mutation should be performed on a case-by-case basis through a shared decision-making process taking into consideration overall risk, family history, patient preference and quality of life. Copyright 2022 Translational Breast Cancer Research. All rights reserved.
520 _aMethods: In this retrospective observational study, we present 5 patients with PALB2 mutations between the ages of 29 and 61 years who were diagnosed with breast cancer and underwent surgical management of their breast cancer at our institution between November 2020 and March 2022. Through their clinical courses and a literature review, we discuss the role of CRRM in breast cancer patients with PALB2 gene mutations.
520 _aResults: Out of the 5 patients, 3 patients underwent CRRM and 2 patients chose unilateral surgery for their breast cancer and active surveillance for the contralateral breast. Of the 3 patients who underwent CRRM, 1 patient experienced a surgical complication from reconstruction on the prophylactic side. None of the patients developed any recurrences with an average length of follow up of 15.4 months.
546 _aEnglish
650 _zAutomated
656 _aMedStar General Surgery Residency
656 _aMedStar Georgetown University Hospital/MedStar Washington Hospital Center
656 _aSurgery
657 _aJournal Article
700 _aBoisvert, Marc
_bMWHC
700 _aMasanam, Monika
_bMGUH
_cMedStar General Surgery Residency
_dMD
700 _aStarks, Leah
_bMGUH
_cMedStar General Surgery Residency
_dMD
790 _aMasanam MK, Pitcher CW, Sogunro O, Starks LK, Murray AB, Boisvert ME
856 _uhttps://dx.doi.org/10.21037/tbcr-22-33
_zhttps://dx.doi.org/10.21037/tbcr-22-33
942 _cART
_dArticle
999 _c14504
_d14504