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The genetics of the Bannayan–Riley–Ruvalcaba syndrome is determined, in the majority of cases, via the [[PTEN gene]] which presents about 30 [[mutations]] in this condition. This gene which regulates [[cell growth]], when ''not'' working properly can lead to hamartomas. PTEN [[chromosomal]] location is 10q23.31, while the [[molecular]] location is 87,863,438 to 87,971,930 <ref name="muta">{{cite web|last1=Reference|first1=Genetics Home|title=PTEN gene|url=https://ghr.nlm.nih.gov/gene/PTEN#|website=Genetics Home Reference|accessdate=9 December 2016}}</ref><ref name="om">{{cite web|title=OMIM Entry - # 153480 - BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS|url=http://www.omim.org/entry/153480|website=www.omim.org|accessdate=9 December 2016}}</ref> There are many syndromes that are linked to PTEN aside from Bannayan–Riley–Ruvalcaba Syndrome.<ref>{{cite journal|last1=Edmondson|first1=Andrew C.|last2=Kalish|first2=Jennifer M.|title=Overgrowth Syndromes|journal=Journal of Pediatric Genetics|date=9 December 2016|volume=4|issue=3|pages=136–143|doi=10.1055/s-0035-1564440|issn=2146-4596|pmc=4918719|pmid=27617124}}</ref>
The syndrome combines '''Bannayan–Zonana syndrome''', '''Riley–Smith syndrome''', and '''Ruvalcaba–Myhre–Smith syndrome''', which historically had been described as three separate entities, but have been accepted as a common diagnosis.<ref>{{cite book | title = Inherited Metabolic Diseases: A Guide to 100 Conditions |editor-first=Steve |editor-last=Hannigan | publisher = Radcliffe Publishing | year = 2007 | isbn = 1-84619-099-1 | page = 101 | url = https://books.google.com/books?id=lQvUH3ALdJcC&pg=PA101&dq=Ruvalcaba-Myhre-Smith+syndrome}}</ref> Bannayan–Zonana syndrome is named for George A. Bannayan and Jonathan Zonana<ref>{{cite journal|last1=Bannayan|first1=G. A.|title=Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome|journal=Archives of Pathology|date=1 July 1971|volume=92|issue=1|pages=1–5|issn=0363-0153|pmid=5091590}}</ref>
==Diagnosis==
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