Keyword

germline genetic testing

Description: Clinical analysis of inherited DNA to identify genetic variants associated with hereditary disease risk, diagnosis, or treatment.

Primary topic: BRCA gene mutations in cancer (53%)

OpenAlex ID: keywords/germline-testing

ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

2015 · Sapna Syngal, Randall E Brand, et al. · The American Journal of Gastroenterology · 1,664

Prostate Cancer, Version 2.2019, NCCN Clinical Practice Guidelines in Oncology

2019 · James L. Mohler, Emmanuel S. Antonarakis, et al. · Journal of the National Comprehensive Cancer Network · 1,532

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Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing

2011 · Tom Walsh, Silvia Casadei, et al. · Proceedings of the National Academy of Sciences · 933

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Pathogenic Germline Variants in 10,389 Adult Cancers

2018 · Kuan-lin Huang, R. Jay Mashl, et al. · Cell · 836

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Inherited Mutations in 17 Breast Cancer Susceptibility Genes Among a Large Triple-Negative Breast Cancer Cohort Unselected for Family History of Breast Cancer

2014 · Fergus J. Couch, Steven N. Hart, et al. · Journal of Clinical Oncology · 673

Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer

2018 · Alicia Latham, Preethi Srinivasan, et al. · Journal of Clinical Oncology · 618

Genetic Testing and Results in a Population-Based Cohort of Breast Cancer Patients and Ovarian Cancer Patients

2019 · Allison W. Kurian, Kevin C. Ward, et al. · Journal of Clinical Oncology · 387

Prediction of Germline Mutations and Cancer Risk in the Lynch Syndrome

2006 · Sining Chen, Wenyi Wang, et al. · JAMA · 384

Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline

2020 · Panagiotis A. Konstantinopoulos, Barbara Norquist, et al. · Journal of Clinical Oncology · 380

Evaluating Mismatch Repair Deficiency in Pancreatic Adenocarcinoma: Challenges and Recommendations

2018 · Zishuo I. Hu, Jinru Shia, et al. · Clinical Cancer Research · 372

Prevalence of Germline Variants in Prostate Cancer and Implications for Current Genetic Testing Guidelines

2019 · Piper Nicolosi, Elisa Ledet, et al. · JAMA Oncology · 366

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NCCN Guidelines Updates: Pancreatic Cancer.

2019 · Margaret A Tempero · PubMed · 329

Updates and New Options in Advanced Epithelial Ovarian Cancer Treatment

2020 · Katherine C. Kurnit, Gini F. Fleming, et al. · Obstetrics and Gynecology · 322

Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019

2020 · Veda N. Giri, Karen E. Knudsen, et al. · Journal of Clinical Oncology · 276

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Management of Male Breast Cancer: ASCO Guideline

2020 · Michael J. Hassett, Mark R. Somerfield, et al. · Journal of Clinical Oncology · 266

Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer

2017 · Allison W. Kurian, Yun Li, et al. · Journal of Clinical Oncology · 265

Multiplex Genetic Testing for Cancer Susceptibility: Out on the High Wire Without a Net?

2013 · Susan M. Domchek, Angela Bradbury, et al. · Journal of Clinical Oncology · 237

Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients

2016 · Angela George, Daniel Riddell, et al. · Scientific Reports · 233

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Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: Report from the constitutional mismatch repair deficiency consortium

2014 · Doua Bakry, Melyssa Aronson, et al. · European Journal of Cancer · 233

Platinum response characteristics of patients with pancreatic ductal adenocarcinoma and a germline BRCA1, BRCA2 or PALB2 mutation

2019 · Max M. Wattenberg, Daniella Asch, et al. · British Journal of Cancer · 205

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Evaluating Susceptibility to Pancreatic Cancer: ASCO Provisional Clinical Opinion

2018 · Elena M. Stoffel, Shannon E. McKernin, et al. · Journal of Clinical Oncology · 199

Uptake, Results, and Outcomes of Germline Multiple-Gene Sequencing After Diagnosis of Breast Cancer

2018 · Allison W. Kurian, Kevin C. Ward, et al. · JAMA Oncology · 193

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Germline AIP Mutations in Apparently Sporadic Pituitary Adenomas: Prevalence in a Prospective Single-Center Cohort of 443 Patients

2012 · Laure Cazabat, Jérôme Bouligand, et al. · The Journal of Clinical Endocrinology & Metabolism · 185

Germline Genetic Testing After Cancer Diagnosis

2023 · Allison W. Kurian, Paul Abrahamse, et al. · JAMA · 176

Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors

2021 · Erin F. Cobain, Yi-Mi Wu, et al. · JAMA Oncology · 156

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Works count: 2,496

Citation count: 27,470