A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment
Heather Hampel,Robin L. Bennett,Adam H. Buchanan,Rachel Pearlman,Georgia L. Wiesner,Genomics (Acmg) Professional Practice +5 more
TLDR
The purpose of this practice guideline is to present a single set of comprehensive personal and family history criteria to facilitate identification and maximize appropriate referral of at-risk individuals for cancer genetic consultation.About:
This article is published in Genetics in Medicine.The article was published on 2015-01-01 and is currently open access. It has received 393 citations till now. The article focuses on the topics: Referral & Guideline.read more
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Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing
Diana Mandelker,Liying Zhang,Yelena Kemel,Yelena Kemel,Zsofia K. Stadler,Zsofia K. Stadler,Vijai Joseph,Vijai Joseph,Vijai Joseph,Ahmet Zehir,Nisha Pradhan,Angela G. Arnold,Michael Walsh,Michael Walsh,Yirong Li,Anoop R. Balakrishnan,Aijazuddin Syed,Meera Prasad,Khedoudja Nafa,Maria I. Carlo,Maria I. Carlo,Karen Cadoo,Karen Cadoo,Meg Sheehan,Megan Harlan Fleischut,Erin E. Salo-Mullen,Magan Trottier,Steven M. Lipkin,Anne Lincoln,Semanti Mukherjee,Semanti Mukherjee,Vignesh Ravichandran,Roy Cambria,Jesse Galle,Wassim Abida,Wassim Abida,Marcia E. Arcila,Ryma Benayed,Ronak Shah,Ronak Shah,Kenneth H. Yu,Kenneth H. Yu,Dean F. Bajorin,Dean F. Bajorin,Jonathan A. Coleman,Jonathan A. Coleman,Steven D. Leach,Steven D. Leach,Maeve A. Lowery,Maeve A. Lowery,Julio Garcia-Aguilar,Julio Garcia-Aguilar,Julio Garcia-Aguilar,Philip W. Kantoff,Philip W. Kantoff,Charles L. Sawyers,Charles L. Sawyers,Charles L. Sawyers,Maura N. Dickler,Maura N. Dickler,Leonard B. Saltz,Leonard B. Saltz,Robert J. Motzer,Robert J. Motzer,Eileen M. O'Reilly,Eileen M. O'Reilly,Howard I. Scher,Howard I. Scher,Howard I. Scher,José Baselga,José Baselga,José Baselga,David S. Klimstra,David S. Klimstra,David B. Solit,David B. Solit,David B. Solit,David M. Hyman,David M. Hyman,Michael F. Berger,Michael F. Berger,Michael F. Berger,Marc Ladanyi,Marc Ladanyi,Mark E. Robson,Mark E. Robson,Kenneth Offit,Kenneth Offit,Kenneth Offit +88 more
TL;DR: In this paper, the proportion and potential clinical implications of inherited variants detected using simultaneous sequencing of the tumor and normal tissue (tumor-normal sequencing) compared with genetic test results based on current guidelines were identified.
Journal ArticleDOI
The North American Neuroendocrine Tumor Society Consensus Guidelines for Surveillance and Medical Management of Midgut Neuroendocrine Tumors.
Jonathan R. Strosberg,Thorvardur R. Halfdanarson,Andrew M. Bellizzi,Jennifer A. Chan,Joseph S. Dillon,Anthony P. Heaney,Pamela L. Kunz,Thomas M. O'Dorisio,Riad Salem,Eva Segelov,James R. Howe,Rodney F. Pommier,Kari Brendtro,Mohammad Bashir,Simron Singh,Michael C. Soulen,Laura H. Tang,Jerome S. Zacks,James C. Yao,Emily K. Bergsland +19 more
TL;DR: The medical aspects of these guidelines (focusing on systemic treatment, nonsurgical liver-directed therapy, and postoperative surveillance) are summarized in this article and surgical guidelines are described in a companion article.
Journal ArticleDOI
Prevalence of Germline Variants in Prostate Cancer and Implications for Current Genetic Testing Guidelines.
Piper Nicolosi,Elisa Ledet,Shan Yang,Scott T. Michalski,Brandy Freschi,Erin O’Leary,Edward D. Esplin,Robert L. Nussbaum,Oliver Sartor +8 more
TL;DR: Current NCCN guidelines and Gleason scores cannot reliably stratify patients with prostate cancer for the presence or absence of pathogenic germline variants, which underscores the need to revisit current guidelines.
Journal ArticleDOI
POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance
Fernando Bellido,Marta Pineda,Gemma Aiza,Rafael Valdés-Mas,Matilde Navarro,Diana A. Puente,Tirso Pons,Sara González,Silvia Iglesias,Esther Darder,Virginia Piñol,José Luis Soto,Alfonso Valencia,Ignacio Blanco,Miguel Urioste,Joan Brunet,Conxi Lázaro,Gabriel Capellá,Xose S. Puente,Laura Valle +19 more
TL;DR: Phenotypic data from these and previously reported POLE/POLD1 carriers point to an associated phenotype characterized by attenuated or oligo-adenomatous colorectal polyposis, CRC, and probably brain tumors.
Journal ArticleDOI
Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline.
Panagiotis A. Konstantinopoulos,Barbara M. Norquist,Christina Lacchetti,Deborah K. Armstrong,Rachel N. Grisham,Paul J. Goodfellow,Elise C. Kohn,Douglas A. Levine,Joyce F. Liu,Karen H. Lu,Dorinda Sparacio,Christina M. Annunziata +11 more
TL;DR: Recommendations are made that first- or second-degree blood relatives of a patient with ovarian cancer with a known germline pathogenic cancer susceptibility gene variant should be offered individualized genetic risk evaluation, counseling, and genetic testing.
References
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Journal Article
A National Cancer Institute Workshop on Microsatellite Instability for Cancer Detection and Familial Predisposition: Development of International Criteria for the Determination of Microsatellite Instability in Colorectal Cancer
C. Richard Boland,Stephen N. Thibodeau,Stanley R. Hamilton,David Sidransky,James R. Eshleman,Randall W. Burt,Stephen J. Meltzer,Miguel A. Rodriguez-Bigas,Riccardo Fodde,G. Nadia Ranzani,Sudhir Srivastava +10 more
TL;DR: The spectrum of microsatellite alterations in noncolonic tumors was reviewed, and it was concluded that the above recommendations apply only to colorectal neoplasms.
Journal ArticleDOI
Revised Bethesda Guidelines for Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) and Microsatellite Instability
Asad Umar,C. Richard Boland,Jonathan P. Terdiman,Sapna Syngal,Albert de la Chapelle,Josef Rüschoff,Richard Fishel,Noralane M. Lindor,Lawrence J. Burgart,Richard Hamelin,Stanley R. Hamilton,Robert A. Hiatt,Jeremy R. Jass,Annika Lindblom,Henry T. Lynch,Päivi Peltomäki,Scott D. Ramsey,Miguel A. Rodriguez-Bigas,Hans F. A. Vasen,Ernest T. Hawk,J. Carl Barrett,Andrew N. Freedman,Sudhir Srivastava +22 more
TL;DR: This commentary summarizes the Workshop presentations on HNPCC and MSI testing; presents the issues relating to the performance, specificity, and specificity of the Bethesda Guidelines; outlines the revised Bethesda Guidelines for identifying individuals at risk for H NPCC; and recommend criteria for MSI testing.
Journal ArticleDOI
New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.
TL;DR: The establishment of a set of selection criteria for families with hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) to provide a basis for uniformity in collaborative studies and a definition of HNPCC was proposed that was aimed at helping clinicians to identify families.
Journal ArticleDOI
The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC).
TL;DR: The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) H. Vasen, M. Mecklin, P. Lynch, and H. Meera Khan present a meta-analysis of 125 cases of patients with central giant cell carcinoma of the colon and rectum found to have had atypical EMTs.
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