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Article

Identification of seven new BRCA1 germline mutations in Italian breast and breast/ovarian cancer families.

Cancer research - 1 Dec 1996

Montagna M, Santacatterina M, Corneo B, Menin C, Serova O, Lenoir G M, Chieco-Bianchi L, D'Andrea E

Abstract excerpt

We analyzed 16 Italian breast and breast/ovarian cancer families for BRCA1 germline mutations using a combination of the protein truncation test (PTT) and the single-strand conformation polymorphism techniques. Genomic DNA from the affected proband of each family was analyzed by applying the PTT to exon 11 of the BRCA1 gene. This initial screening led to the identification of truncated protein products in three...

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Source

Identifiers

PMID: 8968102

Genes

BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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