Abdominal Radiology

, Volume 44, Issue 11, pp 3743–3750 | Cite as

Genetics of rectal cancer and novel therapies: primer for radiologists

  • Sebastian Mondaca
  • Rona YaegerEmail author
Special Section: Rectal Cancer


Rectal cancer accounts for one-third of newly diagnosed colorectal cancer cases. Given its anatomical location and risk for local recurrence, a multidisciplinary treatment program including surgery, radiation therapy, and chemotherapy has demonstrated improved outcomes in localized disease. Genetic analysis has become part of the standard approach for management of advanced disease and new trials are considering tailored therapies for locally advanced disease. This review describes molecular subsets of colorectal cancer; implications for clinical management, including patterns of metastatic spread and response to therapies; and emerging matched therapies. During the last decade, significant biological differences have been noted based on colorectal cancer primary location and here we focus on rectal cancers and relevant markers for this disease. As more treatment for localized rectal cancer is shifted to the neoadjuvant setting and more targeted regimens are developed for metastatic disease, radiologists will increasingly see patients defined by molecular subsets and their awareness of the genetics of rectal cancer will help further refine our understanding of this disease.


Rectal cancer Next-generation sequencing Targeted therapy Genomics 



We acknowledge Walid Chatila and Marc Gollub for help with the figures.


Supported by the National Institutes of Health Memorial Sloan Kettering Cancer Center Core Grant (P30 CA 008748).

Compliance with ethical standards

Conflicts of interest

R. Yaeger has served on an advisory board for GlaxoSmithKline and has received research funding from Array BioPharma, Genentech, GlaxoSmithKline, and Novartis.


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© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of MedicineMemorial Sloan Kettering Cancer CenterNew YorkUSA

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