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Article

BRCA1 p.Val1688del is a deleterious mutation that recurs in breast and ovarian cancer families from Northeast Italy.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology - 1 Jan 2008

Malacrida Sandro, Agata Simona, Callegaro Monia, Casella Cinzia, Barana Daniela, Scaini Maria C, Manoukian Siranoush, Oliani Cristina, Radice Paolo, Barile Monica, Menin Chiara, D'Andrea Emma, Montagna Marco

Abstract excerpt

PURPOSE: A growing number of sequence changes of unknown clinical significance are being identified in the BRCA1 gene. However, these variants cannot be used for identification and surveillance of at-risk individuals unless their pathogenic role can be demonstrated. The frequency of these variants makes research on this subject a relevant topic in the field of predisposition to breast and ovarian cancers. Herein,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18165637
DOI: 10.1200/JCO.2007.13.2118

Genes

BRCA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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