BRST5:The polygenic component of breast cancer susceptibility: Difference between revisions

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 <span style="color:#0070C0">(''General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ HGVS-based nomenclature for variants], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column to a table, click nearby within the table and select the > symbol that appears to be given options. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see'' </span><u>''[[Author_Instructions]]''</u><span style="color:#0070C0"> ''and [[Frequently Asked Questions (FAQs)|<u>FAQs</u>]] as well as contact your [[Leadership|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>])''</span>
 ==Primary Author(s)*==
-Xiaolin Hu
+Xiaolin Hu, GeneDx
 ==WHO Classification of Disease==
 <span style="color:#0070C0">(Will be autogenerated; Book will include name of specific book and have a link to the online WHO site)</span>
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 |}
 ==Definition / Description of Disease==
-The polygenic component of breast cancer refers to the combined effect of many common SNPs, each conferring a small increase in risk, typically under 1.3-fold. Identified mainly through GWAS, these low-penetrance variants collectively explain 18–20% of familial breast cancer risk and are quantified using a polygenic risk score (PRS).
+The polygenic component of breast cancer refers to the combined effect of many common SNPs, each conferring a small increase in risk, typically under 1.3-fold. Identified mainly through GWAS, these low-penetrance variants collectively explain 18–20% of familial breast cancer risk and are quantified using a polygenic risk score (PRS) <ref>{{Cite journal|last=Michailidou|first=Kyriaki|last2=Lindström|first2=Sara|last3=Dennis|first3=Joe|last4=Beesley|first4=Jonathan|last5=Hui|first5=Shirley|last6=Kar|first6=Siddhartha|last7=Lemaçon|first7=Audrey|last8=Soucy|first8=Penny|last9=Glubb|first9=Dylan|date=2017-11-02|title=Association analysis identifies 65 new breast cancer risk loci|url=https://pubmed.ncbi.nlm.nih.gov/29059683|journal=Nature|volume=551|issue=7678|pages=92–94|doi=10.1038/nature24284|issn=1476-4687|pmc=5798588|pmid=29059683}}</ref><ref>{{Cite journal|last=Mavaddat|first=Nasim|last2=Pharoah|first2=Paul D. P.|last3=Michailidou|first3=Kyriaki|last4=Tyrer|first4=Jonathan|last5=Brook|first5=Mark N.|last6=Bolla|first6=Manjeet K.|last7=Wang|first7=Qin|last8=Dennis|first8=Joe|last9=Dunning|first9=Alison M.|date=2015-05|title=Prediction of breast cancer risk based on profiling with common genetic variants|url=https://pubmed.ncbi.nlm.nih.gov/25855707|journal=Journal of the National Cancer Institute|volume=107|issue=5|pages=djv036|doi=10.1093/jnci/djv036|issn=1460-2105|pmc=4754625|pmid=25855707}}</ref>.
 ==Synonyms / Terminology==
 Polygenic breast cancer risk; Common low-penetrance breast cancer alleles
 ==Epidemiology / Prevalence==
-Over 170 low-penetrance alleles have been identified, primarily in populations of European descent, accounting for approximately 18% of familial breast cancer risk. These loci are found in the general population with varying allele frequencies and are being increasingly incorporated into risk prediction models.
+Over 170 low-penetrance alleles have been identified, primarily in populations of European descent, accounting for approximately 18% of familial breast cancer risk<ref>{{Cite journal|last=Adam|first=Kevin|last2=Hunter|first2=Tony|date=2018-02|title=Histidine kinases and the missing phosphoproteome from prokaryotes to eukaryotes|url=https://pubmed.ncbi.nlm.nih.gov/29058706|journal=Laboratory Investigation; a Journal of Technical Methods and Pathology|volume=98|issue=2|pages=233–247|doi=10.1038/labinvest.2017.118|issn=1530-0307|pmc=5815933|pmid=29058706}}</ref>. These loci are found in the general population with varying allele frequencies and are being increasingly incorporated into risk prediction models.
 ==Clinical Features==
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