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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2009-9-17
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pubmed:abstractText |
Germline mutations in the BRCA1 and BRCA2 tumour-suppressor genes predispose to early-onset breast and ovarian cancer. Although both genes display a highly heterogeneous mutation spectrum, a number of alterations recur in some populations. Only a limited number of founder mutations have been identified in the Italian population so far.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1573-7217
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pubmed:author |
pubmed-author:CongregatiCaterinaC,
pubmed-author:FalchettiMarioM,
pubmed-author:GenuardiMaurizioM,
pubmed-author:MorroneDoralbaD,
pubmed-author:OttiniLauraL,
pubmed-author:PalliDomenicoD,
pubmed-author:PapiLauraL,
pubmed-author:PutignanoAnna LauraAL,
pubmed-author:SeraFrancescoF,
pubmed-author:TurcoMarco Rosselli DelMR,
pubmed-author:ZannaInesI
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pubmed:issnType |
Electronic
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pubmed:volume |
117
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
497-504
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pubmed:dateRevised |
2010-2-4
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pubmed:meshHeading |
pubmed-meshheading:18821011-Adult,
pubmed-meshheading:18821011-Aged,
pubmed-meshheading:18821011-Breast Neoplasms,
pubmed-meshheading:18821011-Breast Neoplasms, Male,
pubmed-meshheading:18821011-DNA Mutational Analysis,
pubmed-meshheading:18821011-Female,
pubmed-meshheading:18821011-Founder Effect,
pubmed-meshheading:18821011-Genes, BRCA1,
pubmed-meshheading:18821011-Haplotypes,
pubmed-meshheading:18821011-Humans,
pubmed-meshheading:18821011-Italy,
pubmed-meshheading:18821011-Male,
pubmed-meshheading:18821011-Microsatellite Repeats,
pubmed-meshheading:18821011-Middle Aged,
pubmed-meshheading:18821011-Pedigree
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pubmed:year |
2009
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pubmed:articleTitle |
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy.
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pubmed:affiliation |
Medical Genetics Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini, 6, 50139 Florence, Italy. l.papi@dfc.unifi.it
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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