BRCA and Beyond: Comprehensive Image-rich Review of Hereditary Breast and Gynecologic Cancer Syndromes

被引:14
作者
Chung, Stephanie Histed [1 ]
Woldenberg, Nina [4 ]
Roth, Antoinette R. [5 ]
Masamed, Rinat [1 ]
Conlon, Wendy [2 ]
Cohen, Joshua G. [3 ]
Joines, Melissa M. [1 ]
Patel, Maitraya K. [1 ]
机构
[1] Univ Calif Los Angeles, David Geffen Sch Med, Dept Radiol, Los Angeles, CA 90095 USA
[2] Univ Calif Los Angeles, David Geffen Sch Med, Dept Clin Genet, Los Angeles, CA 90095 USA
[3] Univ Calif Los Angeles, David Geffen Sch Med, Dept Obstet & Gynecol, Los Angeles, CA 90095 USA
[4] Newport Harbor Radiol Associates, Hoag Hosp, Newport Beach, CA USA
[5] Olive View UCLA Med Ctr, Dept Radiol, 14445 Olive View Dr, Sylmar, CA 91342 USA
关键词
CELL CARCINOMA SYNDROME; TP53 MUTATION CARRIERS; PEUTZ-JEGHERS SYNDROME; OVARIAN-CANCER; LYNCH-SYNDROME; LI-FRAUMENI; GERMLINE MUTATIONS; COWDEN-SYNDROME; PATHOLOGICAL FEATURES; CLINICAL-FEATURES;
D O I
10.1148/rg.2020190084
中图分类号
R8 [特种医学]; R445 [影像诊断学];
学科分类号
1002 ; 100207 ; 1009 ;
摘要
In addition to the well-characterized BRCA1 and BRCA2 hereditary breast and ovarian cancer syndromes, many other syndromes that are associated with genetic mutations predispose individuals to an increased risk of breast and gynecologic malignancies. Many mutated genes encode for tumor-suppressor products and are inherited in an autosomal dominant manner. Mutations markedly increase an individual's lifetime risk of cancers in different organ systems, depending on the associated syndrome. These syndromes include Lynch syndrome, the most common hereditary cause of endometrial cancer, and Peutz-Jeghers syndrome, which increases the risks of breast cancer, ovarian cancer, and cervical adenoma malignum. Li-Fraumeni syndrome and Cowden syndrome increase the risk of breast cancer, and Gorlin syndrome increases the risk of ovarian fibromas. With advances in genetic testing, clinicians' knowledge and awareness of the numerous additional genes associated with breast and ovarian cancers, such as ATM, CHEK2, and PALB2, are rapidly expanding. Radiologists have essential roles in patient management, which include developing optimal screening protocols for these patients and closely monitoring them for the development or recurrence of disease-specific malignancies. Radiologists' roles continue to increase and evolve as more mutations are identified and high-risk imaging screening recommendations expand to identify these patients. Understanding the epidemiologic, genetic, and pathophysiologic features and the cancers associated with these syndromes enables radiologists to appropriately contribute to patient management, ensure accurate and timely diagnosis, and make syndrome-specific imaging recommendations. (C) RSNA, 2020
引用
收藏
页码:306 / 325
页数:20
相关论文
共 108 条
[71]  
NCCN. National Comprehensive Cancer Network, GEN FAM HIGH RISK AS
[72]   Localization of the gene for Cowden disease to chromosome 10q22-23 [J].
Nelen, MR ;
Padberg, GW ;
Peeters, EAJ ;
Lin, AY ;
vandenHelm, B ;
Frants, RR ;
Coulon, V ;
Goldstein, AM ;
vanReen, MMM ;
Easton, DF ;
Eeles, RA ;
Hodgson, S ;
Mulvihill, JJ ;
Murday, VA ;
Tucker, MA ;
Mariman, ECM ;
Starink, TM ;
Ponder, BAJ ;
Ropers, HH ;
Kremer, H ;
Longy, M ;
Eng, C .
NATURE GENETICS, 1996, 13 (01) :114-116
[73]   Hereditary breast and ovarian cancer: new genes in confined pathways [J].
Nielsen, Finn Cilius ;
Hansen, Thomas van Overeem ;
Sorensen, Claus Storgaard .
NATURE REVIEWS CANCER, 2016, 16 (09) :599-612
[74]   Sarcomas in TP53 Germline Mutation Carriers A Review of the IARC TP53 Database [J].
Ognjanovic, Simona ;
Olivier, Magali ;
Bergemann, Tracy L. ;
Hainaut, Pierre .
CANCER, 2012, 118 (05) :1387-1396
[75]  
Olivier M, 2003, CANCER RES, V63, P6643
[76]   Ovarian fibromas and cystadenofibromas: MRI features of the fibrous component [J].
Outwater, EK ;
Siegelman, ES ;
Talerman, A ;
Dunton, C .
JMRI-JOURNAL OF MAGNETIC RESONANCE IMAGING, 1997, 7 (03) :465-471
[77]   EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome [J].
Palomaki, Glenn E. ;
McClain, Monica R. ;
Melillo, Stephanie ;
Hampel, Heather L. ;
Thibodeau, Stephen N. .
GENETICS IN MEDICINE, 2009, 11 (01) :42-65
[78]   Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2 [J].
Petrucelli, Nancie ;
Daly, Mary B. ;
Feldman, Gerald L. .
GENETICS IN MEDICINE, 2010, 12 (05) :245-259
[79]   Cowden Syndrome: A Critical Review of the Clinical Literature [J].
Pilarski, Robert .
JOURNAL OF GENETIC COUNSELING, 2009, 18 (01) :13-27
[80]   Fallopian Tube Disease in the Nonpregnant Patient [J].
Rezvani, Maryam ;
Shaaban, Akram M. .
RADIOGRAPHICS, 2011, 31 (02) :527-U279