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Double Heterozygosity for Rare Deleterious Variants in the IBRCA1/I and IBRCA2/I Genes in a Hungaria...

Double Heterozygosity for Rare Deleterious Variants in the IBRCA1/I and IBRCA2/I Genes in a Hungaria...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A771910663

Double Heterozygosity for Rare Deleterious Variants in the IBRCA1/I and IBRCA2/I Genes in a Hungarian Patient with Breast Cancer

About this item

Full title

Double Heterozygosity for Rare Deleterious Variants in the IBRCA1/I and IBRCA2/I Genes in a Hungarian Patient with Breast Cancer

Publisher

MDPI AG

Journal title

International journal of molecular sciences, 2023-10, Vol.24 (20)

Language

English

Formats

Publication information

Publisher

MDPI AG

More information

Scope and Contents

Contents

Hereditary breast cancer is most commonly attributed to germline BRCA1 and BRCA2 gene variants. The vast majority of BRCA1 and BRCA2 mutation carriers are single heterozygotes, and double heterozygosity (DH) is a very rare finding. Here, we describe the case of a BRCA1/BRCA2 double heterozygous female proband diagnosed with breast cancer. Genetic t...

Alternative Titles

Full title

Double Heterozygosity for Rare Deleterious Variants in the IBRCA1/I and IBRCA2/I Genes in a Hungarian Patient with Breast Cancer

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_gale_infotracmisc_A771910663

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A771910663

Other Identifiers

ISSN

1422-0067

DOI

10.3390/ijms242015334

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