Weinberg, D. S. & Schoen, R. E. In the clinic. Screening for colorectal cancer. Ann. Intern. Med. 160, ITC5-1 (2014).
Atkin, W. S. et al. Once-only flexible sigmoidoscopy screening in prevention of colorectal cancer: a multicentre randomised controlled trial. Lancet 375, 1624–1633 (2010).
Schoen, R. E. et al. Colorectal-cancer incidence and mortality with screening flexible sigmoidoscopy. N. Engl. J. Med. 366, 2345–2357 (2012).
Landy, R. et al. Impact of cervical screening on cervical cancer mortality: estimation using stage-specific results from a nested case-control study. Br. J. Cancer 115, 1140–1146 (2016).
Cooper, G. S., Chak, A. & Koroukian, S. The polyp detection rate of colonoscopy: a national study of Medicare beneficiaries. Am. J. Med. 118, 1413 (2005).
Pickhardt, P. J. et al. Assessment of volumetric growth rates of small colorectal polyps with CT colonography: a longitudinal study of natural history. Lancet Oncol. 14, 711–720 (2013).
Lin, J. S. et al. Screening for colorectal cancer: updated evidence report and systematic review for the US Preventive Services Task Force. JAMA 315, 2576–2594 (2016).
US Preventive Services Task Force. Screening for breast cancer: U.S. Preventive Services Task Force recommendation statement. Ann. Intern. Med. 151, 716–726 (2009).
Welch, H. G. & Black, W. C. Overdiagnosis in cancer. J. Natl Cancer Inst. 102, 605–613 (2010).
Esserman, L. J. et al. Addressing overdiagnosis and overtreatment in cancer: a prescription for change. Lancet Oncol. 15, e234–e242 (2014).
Hofmann, B. & Welch, H. G. New diagnostic tests: more harm than good. BMJ 358, j3314 (2017).
Shieh, Y. et al. Population-based screening for cancer: hope and hype. Nat. Rev. Clin. Oncol. 13, 550–565 (2016).
Srivastava, S. et al. Research needs for understanding the biology of overdiagnosis in cancer screening. J. Cell. Physiol. 231, 1870–1875 (2016).
Bach, P. B. Reduced lung-cancer mortality with CT screening. N. Engl. J. Med. 365, 2035–2038 (2011).
Welch, H. G., Woloshin, S. & Schwartz, L. M. Skin biopsy rates and incidence of melanoma: population based ecological study. BMJ 331, 481 (2005).
Lowenstein, L. M. et al. Active surveillance for prostate and thyroid cancers: evolution in clinical paradigms and lessons learned. Nat. Rev. Clin. Oncol. 16, 168–184 (2018).
Carter, J. L., Coletti, R. J. & Harris, R. P. Quantifying and monitoring overdiagnosis in cancer screening: a systematic review of methods. BMJ 350, g7773 (2015).
Falk, R. S. et al. Overdiagnosis among women attending a population-based mammography screening program. Int. J. Cancer 133, 705–712 (2013).
Zahl, P. H., Strand, B. H. & Maehlen, J. Incidence of breast cancer in Norway and Sweden during introduction of nationwide screening: prospective cohort study. BMJ 328, 921–924 (2004).
Marmot, M. G. et al. The benefits and harms of breast cancer screening: an independent review. Br. J. Cancer 108, 2205–2240 (2013).
Carter, H. B., Piantadosi, S. & Isaacs, J. T. Clinical evidence for and implications of the multistep development of prostate cancer. J. Urol. 143, 742–746 (1990).
Etzioni, R. et al. Asymptomatic incidence and duration of prostate cancer. Am. J. Epidemiol. 148, 775–785 (1998).
Tolkach, Y. & Kristiansen, G. The heterogeneity of prostate cancer: a practical approach. Pathobiology 85, 108–116 (2018).
Cancer Genome Atlas Research Network. The molecular taxonomy of primary prostate cancer. Cell 163, 1011–1025 (2015).
US Preventive Services Task Force. Screening for prostate cancer: U.S. Preventive Services Task Force recommendation statement. JAMA 319, 1901–1913 (2018).
Kilpelainen, T. P. et al. False-positive screening results in the European randomized study of screening for prostate cancer. Eur. J. Cancer 47, 2698–2705 (2011).
Thompson, I. M. et al. Prevalence of prostate cancer among men with a prostate-specific antigen level < or = 4.0 ng per milliliter. N. Engl. J. Med. 350, 2239–2246 (2004).
Ross, H. M. et al. Do adenocarcinomas of the prostate with Gleason score (GS) </ = 6 have the potential to metastasize to lymph nodes? Am. J. Surg. Pathol. 36, 1346–1352 (2012).
Liu, J. J. et al. Nationwide prevalence of lymph node metastases in Gleason score 3 + 3 = 6 prostate cancer. Pathology 46, 306–310 (2014).
Hassan, O. et al. Incidence of extraprostatic extension at radical prostatectomy with pure Gleason score 3+3=6 (grade group 1) cancer: implications for whether Gleason score 6 prostate cancer should be renamed “not cancer” and for selection criteria for active surveillance. J. Urol. 199, 1482–1487 (2018).
US Preventive Services Task Force. Screening for prostate cancer: U.S. Preventive Services Task Force recommendation statement. Ann. Intern. Med. 157, I-44 (2012).
Ilic, D. et al. Prostate cancer screening with prostate-specific antigen (PSA) test: a systematic review and meta-analysis. BMJ 362, k3519 (2018).
Huland, H. & Graefen, M. Changing trends in surgical management of prostate cancer: the end of overtreatment? Eur. Urol. 68, 175–178 (2015).
Cooperberg, M. R. & Carroll, P. R. Trends in management for patients with localized prostate cancer, 1990–2013. JAMA 314, 80–82 (2015).
Salmasi, A. et al. Radical prostatectomy then and now: surgical overtreatment of prostate cancer is declining from 2009 to 2016 at a tertiary referral center. Urol. Oncol. 36, 401.e419–401.e425 (2018).
Welch, H. G. et al. Breast-cancer tumor size, overdiagnosis, and mammography screening effectiveness. N. Engl. J. Med. 375, 1438–1447 (2016).
Narod, S. A., Iqbal, J. & Miller, A. B. Why have breast cancer mortality rates declined? J. Cancer Policy 5, 8–17 (2015).
Tabar, L. et al. The incidence of fatal breast cancer measures the increased effectiveness of therapy in women participating in mammography screening. Cancer 125, 515–523 (2018).
Otto, S. J. et al. Mammography screening and risk of breast cancer death: a population-based case-control study. Cancer Epidemiol. Biomarkers Prev. 21, 66–73 (2012).
Nelson, H. D. et al. Screening for breast cancer: an update for the U.S. Preventive Services Task Force. Ann. Intern. Med. 151, 727–737 (2009).
Collett, K. et al. A basal epithelial phenotype is more frequent in interval breast cancers compared with screen detected tumors. Cancer Epidemiol. Biomarkers Prev. 14, 1108–1112 (2005).
Porter, P. L. et al. Breast tumor characteristics as predictors of mammographic detection: comparison of interval- and screen-detected cancers. J. Natl Cancer Inst. 91, 2020–2028 (1999).
Esserman, L., Shieh, Y. & Thompson, I. Rethinking screening for breast cancer and prostate cancer. JAMA 302, 1685–1692 (2009).
Esserman, L. J., Thompson, I. M. Jr & Reid, B. Overdiagnosis and overtreatment in cancer: an opportunity for improvement. JAMA 310, 797–798 (2013).
National Lung Screening Trial Research Team. Reduced lung-cancer mortality with low-dose computed tomographic screening. N. Engl. J. Med. 365, 395–409 (2011).
Pinsky, P. F. Assessing the benefits and harms of low-dose computed tomography screening for lung cancer. Lung Cancer Manag. 3, 491–498 (2014).
Heleno, B., Siersma, V. & Brodersen, J. Estimation of overdiagnosis of lung cancer in low-dose computed tomography screening: a secondary analysis of the Danish Lung Cancer Screening Trial. JAMA Intern. Med. 178, 1420–1422 (2018).
Paci, E. et al. Mortality, survival and incidence rates in the ITALUNG randomised lung cancer screening trial. Thorax 72, 825–831 (2017).
Pinsky, P. F. Lung cancer screening with low-dose CT: a world-wide view. Transl Lung Cancer Res. 7, 234–242 (2018).
Huo, J. et al. Complication rates and downstream medical costs associated with invasive diagnostic procedures for lung abnormalities in the community setting. JAMA Intern. Med. 179, 324–332 (2019).
Canto, M. I. et al. Frequent detection of pancreatic lesions in asymptomatic high-risk individuals. Gastroenterology 142, 796–804 (2012).
Canto, M. I. et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut 62, 339–347 (2013).
Verna, E. C. et al. Pancreatic cancer screening in a prospective cohort of high-risk patients: a comprehensive strategy of imaging and genetics. Clin. Cancer Res. 16, 5028–5037 (2010).
Canto, M. I. et al. Screening for early pancreatic neoplasia in high-risk individuals: a prospective controlled study. Clin. Gastroenterol. Hepatol. 4, 766–781 (2006).
Vasen, H. F. et al. Magnetic resonance imaging surveillance detects early-stage pancreatic cancer in carriers of a p16-Leiden mutation. Gastroenterology 140, 850–856 (2011).
Al-Sukhni, W. et al. Screening for pancreatic cancer in a high-risk cohort: an eight-year experience. J. Gastrointest. Surg. 16, 771–783 (2012).
Nougaret, S. et al. Cystic pancreatic lesions: from increased diagnosis rate to new dilemmas. Diagn. Interv. Imaging 97, 1275–1285 (2016).
Mendelson, R. Imaging for chronic abdominal pain in adults. Aust. Prescr. 38, 49–54 (2015).
Klibansky, D. A. et al. The clinical relevance of the increasing incidence of intraductal papillary mucinous neoplasm. Clin. Gastroenterol. Hepatol. 10, 555–558 (2012).
Wilson, G. C. et al. Are the current guidelines for the surgical management of intraductal papillary mucinous neoplasms of the pancreas adequate? A multi-institutional study. J. Am. Coll. Surg. 224, 461–469 (2017).
Rahib, L. et al. Projecting cancer incidence and deaths to 2030: the unexpected burden of thyroid, liver, and pancreas cancers in the United States. Cancer Res. 74, 2913–2921 (2014).
Matthaei, H. et al. Cystic precursors to invasive pancreatic cancer. Nat. Rev. Gastroenterol. Hepatol. 8, 141–150 (2011).
Singh, M. & Maitra, A. Precursor lesions of pancreatic cancer: molecular pathology and clinical implications. Pancreatology 7, 9–19 (2007).
Fonseca, A. L. et al. Intraductal papillary mucinous neoplasms of the pancreas: current understanding and future directions for stratification of malignancy risk. Pancreas 47, 272–279 (2018).
Tanaka, M. et al. Revisions of international consensus Fukuoka guidelines for the management of IPMN of the pancreas. Pancreatology 17, 738–753 (2017).
Winter, J. M. et al. 1423 pancreaticoduodenectomies for pancreatic cancer: a single-institution experience. J. Gastrointest. Surg. 10, 1199–1210 (2006).
Valsangkar, N. P. et al. 851 resected cystic tumors of the pancreas: a 33-year experience at the Massachusetts General Hospital. Surgery 152, S4–S12 (2012).
Galanis, C. et al. Resected serous cystic neoplasms of the pancreas: a review of 158 patients with recommendations for treatment. J. Gastrointest. Surg. 11, 820–826 (2007).
Wilentz, R. E. et al. Pathologic examination accurately predicts prognosis in mucinous cystic neoplasms of the pancreas. Am. J. Surg. Pathol. 23, 1320–1327 (1999).
Scheiman, J. M., Hwang, J. H. & Moayyedi, P. American gastroenterological association technical review on the diagnosis and management of asymptomatic neoplastic pancreatic cysts. Gastroenterology 148, 824–848 (2015).
Hanahan, D. & Weinberg, R. A. Hallmarks of cancer: the next generation. Cell 144, 646–674 (2011).
Esserman, L. J. et al. Use of molecular tools to identify patients with indolent breast cancers with ultralow risk over 2 decades. JAMA Oncol. 3, 1503–1510 (2017).
Irshad, S. et al. A molecular signature predictive of indolent prostate cancer. Sci. Transl Med. 5, 202ra122 (2013).
Vogelstein, B. & Kinzler, K. W. The path to cancer —three strikes and you’re out. N. Engl. J. Med. 373, 1895–1898 (2015).
Polyak, K. Breast cancer: origins and evolution. J. Clin. Invest. 117, 3155–3163 (2007).
Makohon-Moore, A. & Iacobuzio-Donahue, C. A. Pancreatic cancer biology and genetics from an evolutionary perspective. Nat. Rev. Cancer 16, 553–565 (2016).
Gundem, G. et al. The evolutionary history of lethal metastatic prostate cancer. Nature 520, 353–357 (2015).
Jamal-Hanjani, M. et al. Tracking the evolution of non-small-cell lung cancer. N. Engl. J. Med. 376, 2109–2121 (2017).
Sgroi, D. C. Preinvasive breast cancer. Annu. Rev. Pathol. 5, 193–221 (2010).
Porter, D. et al. Molecular markers in ductal carcinoma in situ of the breast. Mol. Cancer Res. 1, 362–375 (2003).
Ma, X. J. et al. Gene expression profiles of human breast cancer progression. Proc. Natl Acad. Sci. USA 100, 5974–5979 (2003).
Makohon-Moore, A. P. et al. Precancerous neoplastic cells can move through the pancreatic ductal system. Nature 561, 201–205 (2018).
Stanta, G. & Bonin, S. Overview on clinical relevance of intra-tumor heterogeneity. Front. Med. 5, 85 (2018).
Grasso, C. S. et al. The mutational landscape of lethal castration-resistant prostate cancer. Nature 487, 239–243 (2012).
Robinson, D. et al. Integrative clinical genomics of advanced prostate cancer. Cell 161, 1215–1228 (2015).
Wu, Y. M. et al. Inactivation of CDK12 delineates a distinct immunogenic class of advanced prostate cancer. Cell 173, 1770–1782 (2018).
Armenia, J. et al. The long tail of oncogenic drivers in prostate cancer. Nat. Genet. 50, 645–651 (2018).
Tomlins, S. A. et al. Role of the TMPRSS2-ERG gene fusion in prostate cancer. Neoplasia 10, 177–188 (2008).
Koh, C. M. et al. MYC and prostate cancer. Genes Cancer 1, 617–628 (2010).
Guedes, L. B. et al. Analytic, preanalytic, and clinical validation of p53 IHC for detection of TP53 missense mutation in prostate cancer. Clin. Cancer Res. 23, 4693–4703 (2017).
Jamaspishvili, T. et al. Clinical implications of PTEN loss in prostate cancer. Nat. Rev. Urol. 15, 222–234 (2018).
Pritchard, C. C. et al. Inherited DNA-repair gene mutations in men with metastatic prostate cancer. N. Engl. J. Med. 375, 443–453 (2016).
Li, J. et al. Molecular differences between screen-detected and interval breast cancers are largely explained by PAM50 subtypes. Clin. Cancer Res. 23, 2584–2592 (2017).
Lambrechts, D. et al. Phenotype molding of stromal cells in the lung tumor microenvironment. Nat. Med. 24, 1277–1289 (2018).
Campbell, M. J. et al. Characterizing the immune microenvironment in high-risk ductal carcinoma in situ of the breast. Breast Cancer Res. Treat. 161, 17–28 (2017).
Borczuk, A. C. et al. Lung adenocarcinoma global profiling identifies type II transforming growth factor-beta receptor as a repressor of invasiveness. Am. J. Respir. Crit. Care Med. 172, 729–737 (2005).
Borczuk, A. C. et al. Lung adenocarcinoma invasion in TGFbetaRII-deficient cells is mediated by CCL5/RANTES. Oncogene 27, 557–564 (2008).
Fridman, W. H. et al. The immune microenvironment: a major player in human cancers. Int. Arch. Allergy Immunol. 164, 13–26 (2014).
Goc, J. et al. Tertiary lymphoid structures in human lung cancers, a new driver of antitumor immune responses. Oncoimmunology 3, e28976 (2014).
Sarr, M. G. et al. Clinical and pathologic correlation of 84 mucinous cystic neoplasms of the pancreas: can one reliably differentiate benign from malignant (or premalignant) neoplasms? Ann. Surg. 231, 205–212 (2000).
Moffitt, R. A. et al. Virtual microdissection identifies distinct tumor- and stroma-specific subtypes of pancreatic ductal adenocarcinoma. Nat. Genet. 47, 1168–1178 (2015).
Schwabe, R. F. & Jobin, C. The microbiome and cancer. Nat. Rev. Cancer 13, 800–812 (2013).
Sowalsky, A. G. et al. Clonal progression of prostate cancers from Gleason grade 3 to grade 4. Cancer Res. 73, 1050–1055 (2013).
Kovtun, I. V. et al. Lineage relationship of Gleason patterns in Gleason score 7 prostate cancer. Cancer Res. 73, 3275–3284 (2013).
Trock, B. J. et al. PTEN loss and chromosome 8 alterations in Gleason grade 3 prostate cancer cores predicts the presence of un-sampled grade 4 tumor: implications for active surveillance. Mod. Pathol. 29, 764–771 (2016).
Sowalsky, A. G. et al. Gleason score 7 prostate cancers emerge through branched evolution of clonal Gleason pattern 3 and 4. Clin. Cancer Res. 23, 3823–3833 (2017).
Palapattu, G. S. et al. Molecular profiling to determine clonality of serial magnetic resonance imaging/ultrasound fusion biopsies from men on active surveillance for low-risk prostate cancer. Clin. Cancer Res. 23, 985–991 (2017).
Klotz, L. et al. Active Surveillance Magnetic Resonance Imaging Study (ASIST): results of a randomized multicenter prospective trial. Eur. Urol. 75, 300–309 (2018).
Catalona, W. J. et al. A multicenter study of [-2]pro-prostate specific antigen combined with prostate specific antigen and free prostate specific antigen for prostate cancer detection in the 2.0 to 10.0 ng/ml prostate specific antigen range. J. Urol. 185, 1650–1655 (2011).
Russo, G. I. et al. A systematic review and meta-analysis of the diagnostic accuracy of prostate health index and 4-kallikrein panel score in predicting overall and high-grade prostate cancer. Clin. Genitourin. Cancer 15, 429–439 (2017).
Sanda, M. G. et al. Association between combined TMPRSS2:ERG and PCA3 RNA urinary testing and detection of aggressive prostate cancer. JAMA Oncol. 3, 1085–1093 (2017).
Kornberg, Z. et al. Genomic prostate score, PI-RADSv2, and progression in men with prostate cancer on active surveillance. J. Urol. 201, 300–307 (2018).
Russnes, H. G. et al. Breast cancer molecular stratification: from intrinsic subtypes to integrative clusters. Am. J. Pathol. 187, 2152–2162 (2017).
Nagarajan, D. & McArdle, S. E. B. Immune landscape of breast cancers. Biomedicines 6, 20 (2018).
Sontag, L. & Axelrod, D. E. Evaluation of pathways for progression of heterogeneous breast tumors. J. Theor. Biol. 232, 179–189 (2005).
Artandi, S. E. Complex roles for telomeres and telomerase in breast carcinogenesis. Breast Cancer Res. 5, 37–41 (2003).
Risom, T. et al. Differentiation-state plasticity is a targetable resistance mechanism in basal-like breast cancer. Nat. Commun. 9, 3815 (2018).
Casasent, A. K. et al. Multiclonal invasion in breast tumors identified by topographic single cell sequencing. Cell 172, 205–217 (2018).
Govindan, R. et al. Genomic landscape of non-small cell lung cancer in smokers and never-smokers. Cell 150, 1121–1134 (2012).
Cancer Genome Atlas Research Network. Comprehensive genomic characterization of squamous cell lung cancers. Nature 489, 519–525 (2012).
Pleasance, E. D. et al. A small-cell lung cancer genome with complex signatures of tobacco exposure. Nature 463, 184–190 (2010).
Cancer Genome Atlas Research Network. Comprehensive molecular profiling of lung adenocarcinoma. Nature 511, 543–550 (2014).
Billatos, E. et al. The airway transcriptome as a biomarker for early lung cancer detection. Clin. Cancer Res. 24, 2984–2992 (2018).
Heinrich, E. L. et al. The inflammatory tumor microenvironment, epithelial mesenchymal transition and lung carcinogenesis. Cancer Microenviron. 5, 5–18 (2012).
Cherezov, D. et al. Delta radiomic features improve prediction for lung cancer incidence: a nested case-control analysis of the National Lung Screening Trial. Cancer Med. 7, 6340–6356 (2018).
Wilson, R. & Devaraj, A. Radiomics of pulmonary nodules and lung cancer. Transl Lung Cancer Res. 6, 86–91 (2017).
Pinsky, P. F. & Berg, C. D. Applying the National Lung Screening Trial eligibility criteria to the US population: what percent of the population and of incident lung cancers would be covered? J. Med. Screen. 19, 154–156 (2012).
Singhi, A. D. et al. Preoperative GNAS and KRAS testing in the diagnosis of pancreatic mucinous cysts. Clin. Cancer Res. 20, 4381–4389 (2014).
Zambirinis, C. P. et al. Pancreatic cancer, inflammation, and microbiome. Cancer J. 20, 195–202 (2014).
Permuth, J. B. et al. Combining radiomic features with a miRNA classifier may improve prediction of malignant pathology for pancreatic intraductal papillary mucinous neoplasms. Oncotarget 7, 85785–85797 (2016).
Hanania, A. N. et al. Quantitative imaging to evaluate malignant potential of IPMNs. Oncotarget 7, 85776–85784 (2016).
Brenner, A. T. et al. Evaluating shared decision making for lung cancer screening. JAMA Intern. Med. 178, 1311–1316 (2018).
Ivlev, I. et al. Prostate cancer screening patient decision aids: a systematic review and meta-analysis. Am. J. Prev. Med. 55, 896–907 (2018).
Davies, L. et al. Defining, estimating, and communicating overdiagnosis in cancer screening. Ann. Intern. Med. 169, 36–43 (2018).