Meghan L Underhill1, Katharine A Germansky2, Matthew B Yurgelun3. 1. Dana-Farber Cancer Institute, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts. 2. Beth Israel Deaconess Medical Center, Boston, Massachusetts. 3. Dana-Farber Cancer Institute, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts; Brigham and Women's Hospital, Boston, Massachusetts. Electronic address: matthew_yurgelun@dfci.harvard.edu.
Abstract
PURPOSE: Innovations in genetic medicine have led to improvements in the early detection, prevention, and treatment of cancer for patients with inherited risks of gastrointestinal cancer, particularly hereditary colorectal cancer and hereditary pancreatic cancer. METHODS: This review provides an update on recent data and key advances that have improved the identification, understanding, and management of patients with hereditary colorectal cancer and hereditary pancreatic cancer. FINDINGS: This review details recent and emerging data that highlight the developing landscape of genetics in hereditary colorectal and pancreatic cancer risk. A summary is provided of the current state-of-the-art practices for identifying, evaluating, and managing patients with suspected hereditary colorectal cancer and pancreatic cancer risk. The impact of next-generation sequencing technologies in the clinical diagnosis of hereditary gastrointestinal cancer and also in discovery efforts of new genes linked to familial cancer risk are discussed. Emerging targeted therapies that may play a particularly important role in the treatment of patients with hereditary forms of colorectal cancer and pancreatic cancer are also reviewed. Current approaches for pancreatic cancer screening and the psychosocial impact of such procedures are also detailed. IMPLICATIONS: Given the availability of new diagnostic, risk-reducing, and therapeutic strategies that exist for patients with hereditary risk of colorectal or pancreatic cancer, it is imperative that clinicians be vigilant about evaluating patients for hereditary cancer syndromes. Continuing to advance genetics research in hereditary gastrointestinal cancers will allow for more progress to be made in personalized medicine and prevention.
PURPOSE: Innovations in genetic medicine have led to improvements in the early detection, prevention, and treatment of cancer for patients with inherited risks of gastrointestinal cancer, particularly hereditary colorectal cancer and hereditary pancreatic cancer. METHODS: This review provides an update on recent data and key advances that have improved the identification, understanding, and management of patients with hereditary colorectal cancer and hereditary pancreatic cancer. FINDINGS: This review details recent and emerging data that highlight the developing landscape of genetics in hereditarycolorectal and pancreatic cancer risk. A summary is provided of the current state-of-the-art practices for identifying, evaluating, and managing patients with suspected hereditary colorectal cancer and pancreatic cancer risk. The impact of next-generation sequencing technologies in the clinical diagnosis of hereditary gastrointestinal cancer and also in discovery efforts of new genes linked to familial cancer risk are discussed. Emerging targeted therapies that may play a particularly important role in the treatment of patients with hereditary forms of colorectal cancer and pancreatic cancer are also reviewed. Current approaches for pancreatic cancer screening and the psychosocial impact of such procedures are also detailed. IMPLICATIONS: Given the availability of new diagnostic, risk-reducing, and therapeutic strategies that exist for patients with hereditary risk of colorectal or pancreatic cancer, it is imperative that clinicians be vigilant about evaluating patients for hereditary cancer syndromes. Continuing to advance genetics research in hereditary gastrointestinal cancers will allow for more progress to be made in personalized medicine and prevention.
Authors: Ingrid C A W Konings; Grace N Sidharta; Femme Harinck; Cora M Aalfs; Jan-Werner Poley; Jacobien M Kieffer; Marianne A Kuenen; Ellen M A Smets; Anja Wagner; Jeanin E van Hooft; Anja van Rens; Paul Fockens; Marco J Bruno; Eveline M A Bleiker Journal: Psychooncology Date: 2015-12-03 Impact factor: 3.894
Authors: Wouter H de Vos tot Nederveen Cappel; Fokko M Nagengast; Gerrit Griffioen; Fred H Menko; Babs G Taal; Jan H Kleibeuker; Hans F Vasen Journal: Dis Colon Rectum Date: 2002-12 Impact factor: 4.585
Authors: Marco Del Chiaro; Caroline S Verbeke; Nikolaos Kartalis; Raffaella Pozzi Mucelli; Peter Gustafsson; Johan Hansson; Stephan L Haas; Ralf Segersvärd; Åke Andren-Sandberg; J-Matthias Löhr Journal: JAMA Surg Date: 2015-06 Impact factor: 14.766
Authors: Douglas K Rex; Dennis J Ahnen; John A Baron; Kenneth P Batts; Carol A Burke; Randall W Burt; John R Goldblum; José G Guillem; Charles J Kahi; Matthew F Kalady; Michael J O'Brien; Robert D Odze; Shuji Ogino; Susan Parry; Dale C Snover; Emina Emilia Torlakovic; Paul E Wise; Joanne Young; James Church Journal: Am J Gastroenterol Date: 2012-06-19 Impact factor: 10.864
Authors: Kelly A Metcalfe; Aletta Poll; Robert Royer; Marcia Llacuachaqui; Anna Tulman; Ping Sun; Steven A Narod Journal: J Clin Oncol Date: 2009-12-14 Impact factor: 44.544
Authors: Sarah E Ferguson; Melyssa Aronson; Aaron Pollett; Lua R Eiriksson; Amit M Oza; Steven Gallinger; Jordan Lerner-Ellis; Zahra Alvandi; Marcus Q Bernardini; Helen J MacKay; Golnessa Mojtahedi; Alicia A Tone; Christine Massey; Blaise A Clarke Journal: Cancer Date: 2014-07-31 Impact factor: 6.860
Authors: Natalie Jones; Stefanie Vogt; Maartje Nielsen; Daria Christian; Petra A Wark; Diana Eccles; Emma Edwards; D Gareth Evans; Eamonn R Maher; Hans F Vasen; Frederik J Hes; Stefan Aretz; Julian R Sampson Journal: Gastroenterology Date: 2009-04-23 Impact factor: 22.682
Authors: Rick Kamps; Rita D Brandão; Bianca J van den Bosch; Aimee D C Paulussen; Sofia Xanthoulea; Marinus J Blok; Andrea Romano Journal: Int J Mol Sci Date: 2017-01-31 Impact factor: 5.923
Authors: Sara Lindström; Hilary Finucane; Brendan Bulik-Sullivan; Fredrick R Schumacher; Christopher I Amos; Rayjean J Hung; Kristin Rand; Stephen B Gruber; David Conti; Jennifer B Permuth; Hui-Yi Lin; Ellen L Goode; Thomas A Sellers; Laufey T Amundadottir; Rachael Stolzenberg-Solomon; Alison Klein; Gloria Petersen; Harvey Risch; Brian Wolpin; Li Hsu; Jeroen R Huyghe; Jenny Chang-Claude; Andrew Chan; Sonja Berndt; Rosalind Eeles; Douglas Easton; Christopher A Haiman; David J Hunter; Benjamin Neale; Alkes L Price; Peter Kraft Journal: Cancer Epidemiol Biomarkers Prev Date: 2017-06-21 Impact factor: 4.254