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Interaction Landscape of Inherited Polymorphisms with Somatic Events in Cancer.

Carter H, Marty R, Hofree M, Gross AM, Jensen J, Fisch KM, Wu X, DeBoever C, Van Nostrand EL, Song Y, Wheeler E, Kreisberg JF, Lippman SM, Yeo GW, Gutkind JS, Ideker T.

Cancer Discov. 2017 Apr;7(4):410-423. doi: 10.1158/2159-8290.CD-16-1045. Epub 2017 Feb 10.


Integrating germline and somatic variation information using genomic data for the discovery of biomarkers in prostate cancer.

Mamidi TKK, Wu J, Hicks C.

BMC Cancer. 2019 Mar 14;19(1):229. doi: 10.1186/s12885-019-5440-8.


A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal.

Sun JX, He Y, Sanford E, Montesion M, Frampton GM, Vignot S, Soria JC, Ross JS, Miller VA, Stephens PJ, Lipson D, Yelensky R.

PLoS Comput Biol. 2018 Feb 7;14(2):e1005965. doi: 10.1371/journal.pcbi.1005965. eCollection 2018 Feb.


Exploring the Link between the Germline and Somatic Genome in Cancer.

Geeleher P, Huang RS.

Cancer Discov. 2017 Apr;7(4):354-355. doi: 10.1158/2159-8290.CD-17-0192.


Mutational landscape of RNA-binding proteins in human cancers.

Neelamraju Y, Gonzalez-Perez A, Bhat-Nakshatri P, Nakshatri H, Janga SC.

RNA Biol. 2018 Jan 2;15(1):115-129. doi: 10.1080/15476286.2017.1391436. Epub 2017 Nov 14.


Comparative analysis of the GNAQ, GNA11, SF3B1, and EIF1AX driver mutations in melanoma and across the cancer spectrum.

Johnson DB, Roszik J, Shoushtari AN, Eroglu Z, Balko JM, Higham C, Puzanov I, Patel SP, Sosman JA, Woodman SE.

Pigment Cell Melanoma Res. 2016 Jul;29(4):470-3. doi: 10.1111/pcmr.12482. No abstract available.


Splicing Factor Mutations in Cancer.

Bejar R.

Adv Exp Med Biol. 2016;907:215-28. doi: 10.1007/978-3-319-29073-7_9.


Germline mutations in the breast cancer susceptibility gene PTEN are rare in high-risk non-BRCA1/2 French Canadian breast cancer families.

Guénard F, Labrie Y, Ouellette G, Beauparlant CJ, Bessette P, Chiquette J, Laframboise R, Lépine J, Lespérance B, Pichette R, Plante M, Durocher F; INHERIT BRCAs.

Fam Cancer. 2007;6(4):483-90. Epub 2007 Jul 17.


Association of candidate single nucleotide polymorphisms with somatic mutation of the epidermal growth factor receptor pathway.

Wormald S, Milla L, O'Connor L.

BMC Med Genomics. 2013 Oct 23;6:43. doi: 10.1186/1755-8794-6-43.


Germline fitness-based scoring of cancer mutations.

Fischer A, Greenman C, Mustonen V.

Genetics. 2011 Jun;188(2):383-93. doi: 10.1534/genetics.111.127480. Epub 2011 Mar 24.


Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.

Meric-Bernstam F, Brusco L, Daniels M, Wathoo C, Bailey AM, Strong L, Shaw K, Lu K, Qi Y, Zhao H, Lara-Guerra H, Litton J, Arun B, Eterovic AK, Aytac U, Routbort M, Subbiah V, Janku F, Davies MA, Kopetz S, Mendelsohn J, Mills GB, Chen K.

Ann Oncol. 2016 May;27(5):795-800. doi: 10.1093/annonc/mdw018. Epub 2016 Jan 19.


A method to reduce ancestry related germline false positives in tumor only somatic variant calling.

Halperin RF, Carpten JD, Manojlovic Z, Aldrich J, Keats J, Byron S, Liang WS, Russell M, Enriquez D, Claasen A, Cherni I, Awuah B, Oppong J, Wicha MS, Newman LA, Jaigge E, Kim S, Craig DW.

BMC Med Genomics. 2017 Oct 19;10(1):61. doi: 10.1186/s12920-017-0296-8.


Germline polymorphisms as modulators of cancer phenotypes.

Tan P.

BMC Med. 2008 Sep 8;6:27. doi: 10.1186/1741-7015-6-27. Review.


VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing.

Koboldt DC, Zhang Q, Larson DE, Shen D, McLellan MD, Lin L, Miller CA, Mardis ER, Ding L, Wilson RK.

Genome Res. 2012 Mar;22(3):568-76. doi: 10.1101/gr.129684.111. Epub 2012 Feb 2.


Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function.

Lobo GP, Waite KA, Planchon SM, Romigh T, Nassif NT, Eng C.

Hum Mol Genet. 2009 Aug 1;18(15):2851-62. doi: 10.1093/hmg/ddp220. Epub 2009 May 20.


Genetic and clinico-pathologic analysis of metastatic uveal melanoma.

Griewank KG, van de Nes J, Schilling B, Moll I, Sucker A, Kakavand H, Haydu LE, Asher M, Zimmer L, Hillen U, Thompson JF, Scolyer RA, Schadendorf D, Murali R.

Mod Pathol. 2014 Feb;27(2):175-83. doi: 10.1038/modpathol.2013.138. Epub 2013 Jul 26.


Approaches to integrating germline and tumor genomic data in cancer research.

Feigelson HS, Goddard KA, Hollombe C, Tingle SR, Gillanders EM, Mechanic LE, Nelson SA.

Carcinogenesis. 2014 Oct;35(10):2157-63. doi: 10.1093/carcin/bgu165. Epub 2014 Aug 12. Review.


Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.

Schrader KA, Cheng DT, Joseph V, Prasad M, Walsh M, Zehir A, Ni A, Thomas T, Benayed R, Ashraf A, Lincoln A, Arcila M, Stadler Z, Solit D, Hyman DM, Zhang L, Klimstra D, Ladanyi M, Offit K, Berger M, Robson M.

JAMA Oncol. 2016 Jan;2(1):104-11. doi: 10.1001/jamaoncol.2015.5208. Erratum in: JAMA Oncol. 2016 Feb;2(2):279. Hyman, David [corrected to Hyman, David M].

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