NF1

Primary Author(s)*

Ngonidzashe Faya, PhD

Madina Sukhanova, PhD, FACMG

Synonyms

Put your text here

EXAMPLE: Tumor protein p53, LFS1, p53, BCC7, TRP53

Genomic Location

Cytoband: 17q11.2

Genomic Coordinates:

Put your text here

EXAMPLE: chr17:7,571,720-7,590,868 [hg19]

EXAMPLE: chr17:7,668,402-7,687,538 [hg38]

Cancer Category/Type

Put your text here

Gene Overview

Put your text here.

Common Alteration Types

Put your text here and/or fill in the table with an X where applicable

Copy Number Loss	Copy Number Gain	LOH	Loss-of-Function Mutation	Gain-of-Function Mutation	Translocation/Fusion
EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X

Internal Pages

Put your text here

EXAMPLE Germline Cancer Predisposition Genes

External Links

Put your text here - Include as applicable links to: 1) Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2) COSMIC, 3) CIViC, 4) St. Jude ProteinPaint, 5) Precision Medicine Knowledgebase (Weill Cornell), 6) Cancer Index, 7) OncoKB, 8) NCBI Gene 9) My Cancer Genome, 10) UniProt, 11) Pfam, 12) GeneCards, 13) OMIM 14) Leiden Open Variation Database (LOVD(3)) 15) TICdb - database of Translocation breakpoints In Cancer 16) GeneReviews, and 17) Any gene-specific databases.

EXAMPLES

TP53 by Atlas of Genetics and Cytogenetics in Oncology and Haematology - detailed gene information

TP53 by COSMIC - sequence information, expression, catalogue of mutations

TP53 by CIViC - general knowledge and evidence-based variant specific information

TP53 by IARC - TP53 database with reference sequences and mutational landscape

TP53 by St. Jude ProteinPaint mutational landscape and matched expression data.

TP53 by Precision Medicine Knowledgebase (Weill Cornell) - manually vetted interpretations of variants and CNVs

TP53 by Cancer Index - gene, pathway, publication information matched to cancer type

TP53 by OncoKB - mutational landscape, mutation effect, variant classification

MECOM by NCBI Gene - brief gene overview

TP53 by My Cancer Genome - brief gene overview

TP53 by UniProt - protein and molecular structure and function

TP53 by Pfam - gene and protein structure and function information

TP53 by GeneCards - general gene information and summaries

MECOM by OMIM - compendium of human genes and genetic phenotypes

MECOM by LOVD(3) - Leiden Open Variation Database

MECOM by TICdb - database of Translocation breakpoints In Cancer

GeneReviews - information on Li Fraumeni Syndrome

References

EXAMPLE Book

1. Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.

EXAMPLE Journal Article

1. Li Y, et al., (2001). Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet 28:220-221, PMID 11431691.

EXAMPLE Internet Resource (CMS)

1. author name(s). Date (if possible). page title, website title, web address, and date accessed.
2. Cingam, S. R. and Koshy, N.V. (2017). Cancer, Leukemia, Promyelocytic, Acute (APL, APML). https://www.ncbi.nlm.nih.gov/books/NBK459352/ Accessed August 3, 2018.

Notes

*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.