BRST5:Fibroadenoma: Difference between revisions

[unchecked revision][unchecked revision]
updated content
No edit summary
Line 221: Line 221:
|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
==Epigenomic Alterations==
==Epigenomic Alterations==
Put your text here
<br />
==Genes and Main Pathways Involved==
==Genes and Main Pathways Involved==
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Please include references throughout the table. Do not delete the table.)''</span>
<br />
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
Line 233: Line 233:
|}
|}
==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==
<br />
Next generation sequencing, PCR based testing with Sanger sequencing.<br />
==Familial Forms==
==Familial Forms==
<br />
Women with Carney complex due to an inherited pathogenic variant in PRKAR1A can develop myxoid fibroadenomas, which appear genetically distinct from conventional fibroadenomas.<ref>{{Cite journal|last=Carney|first=J. A.|last2=Toorkey|first2=B. C.|date=1991-08|title=Myxoid fibroadenoma and allied conditions (myxomatosis) of the breast. A heritable disorder with special associations including cardiac and cutaneous myxomas|url=https://pubmed.ncbi.nlm.nih.gov/2069209|journal=The American Journal of Surgical Pathology|volume=15|issue=8|pages=713–721|doi=10.1097/00000478-199108000-00001|issn=0147-5185|pmid=2069209}}</ref><ref>{{Cite journal|last=Lozada|first=John R.|last2=Burke|first2=Kathleen A.|last3=Maguire|first3=Aoife|last4=Pareja|first4=Fresia|last5=Lim|first5=Raymond S.|last6=Kim|first6=Jisun|last7=Gularte-Merida|first7=Rodrigo|last8=Murray|first8=Melissa P.|last9=Brogi|first9=Edi|date=2017-10|title=Myxoid fibroadenomas differ from conventional fibroadenomas: a hypothesis-generating study|url=https://pubmed.ncbi.nlm.nih.gov/28513873|journal=Histopathology|volume=71|issue=4|pages=626–634|doi=10.1111/his.13258|issn=1365-2559|pmc=5597459|pmid=28513873}}</ref> Beckwith-Wiedemann syndrome has been associated with the development of fibroadenomas in young patients.<ref>{{Cite journal|last=Poh|first=Melissa M.|last2=Ballard|first2=Tiffany N.|last3=Wendel|first3=J. Jason|date=2010-06|title=Beckwith-Wiedemann syndrome and juvenile fibroadenoma: a case report|url=https://pubmed.ncbi.nlm.nih.gov/20506580|journal=Annals of Plastic Surgery|volume=64|issue=6|pages=803–806|doi=10.1097/sap.0b013e3181b025f6|issn=1536-3708|pmid=20506580}}</ref><ref>{{Cite journal|last=Raine|first=P. A.|last2=Noblett|first2=H. R.|last3=Houghton-Allen|first3=B. W.|last4=Campbell|first4=P. E.|date=1979-04|title=Breast fibroadenoma and cardiac anomaly associated with EMG (Beckwith-Wiedemann) syndrome|url=https://pubmed.ncbi.nlm.nih.gov/430311|journal=The Journal of Pediatrics|volume=94|issue=4|pages=633–634|doi=10.1016/s0022-3476(79)80039-6|issn=0022-3476|pmid=430311}}</ref><br />
==Additional Information==
==Additional Information==
<br />
<br />
Line 250: Line 250:
[[Category:DISEASE]]
[[Category:DISEASE]]
[[Category:Diseases F]]
[[Category:Diseases F]]
<references />