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Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications...

Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_32f976e151b24f91bbf40981195926b1

Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management

Publication information

Publisher

United States: John Wiley & Sons, Inc

More information

Scope and Contents

Contents

Background
BRCA1:c.5017_5019del (p.His1673del) is a founder variant relatively frequent in Northern Italy. Despite previous suggestion of pathogenicity, variant classification in public databases is still conflicting, needing additional evidence.
Methods
Maximum likelihood penetrance of breast/ovarian and other cancer types was estimated u...

Alternative Titles

Full title

Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_32f976e151b24f91bbf40981195926b1

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_32f976e151b24f91bbf40981195926b1

Other Identifiers

ISSN

2045-7634

E-ISSN

2045-7634

DOI

10.1002/cam4.70114

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