Rare loss of function variants in candidate genes and risk of colorectal cancer

Author:

Rosenthal Elisabeth A., ,Shirts Brian H.,Amendola Laura M.,Horike-Pyne Martha,Robertson Peggy D.,Hisama Fuki M.,Bennett Robin L.,Dorschner Michael O.,Nickerson Deborah A.,Stanaway Ian B.,Nassir Rami,Vickers Kathy T.,Li Christopher,Grady William M.,Peters Ulrike,Jarvik Gail P.

Funder

National Human Genome Research Institute

National Heart, Lung, and Blood Institute

National Institutes of Health

National Cancer Institute

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference48 articles.

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2. AlDubayan SH, Giannakis M, Moore ND, Han GC, Reardon B, Hamada T, Mu XJ, Nishihara R, Qian Z, Liu L et al (2018) Inherited DNA-repair defects in colorectal cancer, vol 102. American Society of Human Genetics (Published by Elsevier Inc), New York

3. Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS et al (2015) Actionable exomic incidental findings in 6503 participants: challenges of variant classification, vol 25. Amendola et al.: Cold Spring Harbor Laboratory Press, Cold Spring Harbor

4. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A et al (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72(5):1117–1130

5. Ford D et al (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet 62(3):676–689

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