Absence of BRCA/FMR1 correlations in women with ovarian cancers.

Previously reported findings in Austrian BRCA1/2 mutation carriers suggested a possible dependency of embryos with BRCA1/2 mutations on so-called low alleles of the fragile X mental retardation 1 (FMR1) gene, characterized by less than 26 CGG repeats (CGG(n<26)). The hypothesis arose from a study...

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Autores principales:	Norbert Gleicher, Jessica N McAlpine, C Blake Gilks, Vitaly A Kushnir, Ho-Joon Lee, Yan-Guang Wu, Emanuela Lazzaroni-Tealdi, David H Barad
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2014
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/d639f8162d0244eda0eac11f2e91ab89
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spelling	oai:doaj.org-article:d639f8162d0244eda0eac11f2e91ab892021-11-25T06:07:58ZAbsence of BRCA/FMR1 correlations in women with ovarian cancers.1932-620310.1371/journal.pone.0102370https://doaj.org/article/d639f8162d0244eda0eac11f2e91ab892014-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/25036526/?tool=EBIhttps://doaj.org/toc/1932-6203Previously reported findings in Austrian BRCA1/2 mutation carriers suggested a possible dependency of embryos with BRCA1/2 mutations on so-called low alleles of the fragile X mental retardation 1 (FMR1) gene, characterized by less than 26 CGG repeats (CGG(n<26)). The hypothesis arose from a study reporting highly statistically significant enrichment of low FMR1 alleles, significantly exceeding low allele prevalence in a general population, suggesting embryo lethality of BRCA1/2 mutations, "rescued" by presence of low FMR1 alleles. Such a dependency would also offer an explanation for the so-called "BRCA-paradox," characterized by BRCA1/2 deficient embryonic tissues being anti-proliferative (thereby potentially causing embryo-lethality) but proliferative in malignant tumors, including breast and ovarian cancers. Follow up investigations by other investigators, however, at most demonstrated trends towards enrichment but, mostly, no enrichment at all, raising questions about the original observation and hypothesis. We in this study, therefore, investigated CGGn of the FMR1 gene of 86 anonymized DNA samples from women with various forms of ovarian cancer, and were unable to demonstrate differences in prevalence of low FMR1 alleles either between positive and negative ovarian cancer patients for BRCA1/2 or between ovarian cancer patients and reported rates in non-cancer populations. This raises further questions about a suggested dependency between BRCA1/2 and FMR1, but also raises the possibility that investigated Austrian BRCA1/2 carrier populations differ from those in other countries. Either only selected BRCA1/2 mutations, therefore, interact with low FMR1 alleles or the Austrian data reflect only coincidental observations.Norbert GleicherJessica N McAlpineC Blake GilksVitaly A KushnirHo-Joon LeeYan-Guang WuEmanuela Lazzaroni-TealdiDavid H BaradPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 9, Iss 7, p e102370 (2014)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Norbert Gleicher Jessica N McAlpine C Blake Gilks Vitaly A Kushnir Ho-Joon Lee Yan-Guang Wu Emanuela Lazzaroni-Tealdi David H Barad Absence of BRCA/FMR1 correlations in women with ovarian cancers.
description	Previously reported findings in Austrian BRCA1/2 mutation carriers suggested a possible dependency of embryos with BRCA1/2 mutations on so-called low alleles of the fragile X mental retardation 1 (FMR1) gene, characterized by less than 26 CGG repeats (CGG(n<26)). The hypothesis arose from a study reporting highly statistically significant enrichment of low FMR1 alleles, significantly exceeding low allele prevalence in a general population, suggesting embryo lethality of BRCA1/2 mutations, "rescued" by presence of low FMR1 alleles. Such a dependency would also offer an explanation for the so-called "BRCA-paradox," characterized by BRCA1/2 deficient embryonic tissues being anti-proliferative (thereby potentially causing embryo-lethality) but proliferative in malignant tumors, including breast and ovarian cancers. Follow up investigations by other investigators, however, at most demonstrated trends towards enrichment but, mostly, no enrichment at all, raising questions about the original observation and hypothesis. We in this study, therefore, investigated CGGn of the FMR1 gene of 86 anonymized DNA samples from women with various forms of ovarian cancer, and were unable to demonstrate differences in prevalence of low FMR1 alleles either between positive and negative ovarian cancer patients for BRCA1/2 or between ovarian cancer patients and reported rates in non-cancer populations. This raises further questions about a suggested dependency between BRCA1/2 and FMR1, but also raises the possibility that investigated Austrian BRCA1/2 carrier populations differ from those in other countries. Either only selected BRCA1/2 mutations, therefore, interact with low FMR1 alleles or the Austrian data reflect only coincidental observations.
format	article
author	Norbert Gleicher Jessica N McAlpine C Blake Gilks Vitaly A Kushnir Ho-Joon Lee Yan-Guang Wu Emanuela Lazzaroni-Tealdi David H Barad
author_facet	Norbert Gleicher Jessica N McAlpine C Blake Gilks Vitaly A Kushnir Ho-Joon Lee Yan-Guang Wu Emanuela Lazzaroni-Tealdi David H Barad
author_sort	Norbert Gleicher
title	Absence of BRCA/FMR1 correlations in women with ovarian cancers.
title_short	Absence of BRCA/FMR1 correlations in women with ovarian cancers.
title_full	Absence of BRCA/FMR1 correlations in women with ovarian cancers.
title_fullStr	Absence of BRCA/FMR1 correlations in women with ovarian cancers.
title_full_unstemmed	Absence of BRCA/FMR1 correlations in women with ovarian cancers.
title_sort	absence of brca/fmr1 correlations in women with ovarian cancers.
publisher	Public Library of Science (PLoS)
publishDate	2014
url	https://doaj.org/article/d639f8162d0244eda0eac11f2e91ab89
work_keys_str_mv	AT norbertgleicher absenceofbrcafmr1correlationsinwomenwithovariancancers AT jessicanmcalpine absenceofbrcafmr1correlationsinwomenwithovariancancers AT cblakegilks absenceofbrcafmr1correlationsinwomenwithovariancancers AT vitalyakushnir absenceofbrcafmr1correlationsinwomenwithovariancancers AT hojoonlee absenceofbrcafmr1correlationsinwomenwithovariancancers AT yanguangwu absenceofbrcafmr1correlationsinwomenwithovariancancers AT emanuelalazzaronitealdi absenceofbrcafmr1correlationsinwomenwithovariancancers AT davidhbarad absenceofbrcafmr1correlationsinwomenwithovariancancers
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Absence of BRCA/FMR1 correlations in women with ovarian cancers.

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