Concepedia

A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients

Holly LaDuca, Eric C. Polley, Amal Yussuf, Lily Hoang, Stephanie Gutierrez, Steven N. Hart, Siddhartha Yadav, Chunling Hu, Jie Na, David E. Goldgar,

Genetics in Medicine · 2019 · 212 citations · 31 references

DOIFull text

Open access

References

31

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 30.5K citations · Full text

, , +11

The National Comprehensive Cancer Network

William T. McGivney · Cancer · 1998 · 16.9K citations

, , +17

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.1K citations · Full text

, , +5

Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer

Heikki Järvinen, Markku Aarnio, Harri Mustonen et al. · Gastroenterology · 2000 · 1.3K citations · Full text

, , +10

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

Claire Palles, Jean‐Baptiste Cazier, Kimberley Howarth et al. · Nature Genetics · 2012 · 986 citations · Full text