Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Double mutation of APC and BRCA1 in an Italian family.

Cancer genetics - 1 Jun 2020

Vietri Maria Teresa, D'Elia Giovanna, Caliendo Gemma, Casamassimi Amelia, Resse Marianna, Passariello Luana, Cioffi Michele, Molinari Anna Maria

Abstract excerpt

Familial adenomatous polyposis (FAP) is a rare genetic disorder caused mainly by monoallelic mutations of APC gene. The hereditary breast and ovarian cancer (HBOC) syndrome is an autosomal dominantly inherited disease, which mostly predisposes to breast and ovarian cancers as a result of germline mutations in BRCA1 or BRCA2 genes. In a family, mutations in two cancer susceptibility genes are extremely rare. We...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adenomatous Polyposis Coli
Share to Adenomatous Polyposis Coli Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to BRCA1 Protein

Share to DNA Mutational Analysis

Share to Family

Share to Genetic Testing

Share to Ovarian Neoplasms

Share to Pedigree

Source

Identifiers

PMID: 32388397
DOI: 10.1016/j.cancergen.2020.04.074

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Double mutation of APC and BRCA1 in an Italian family.PMID 32388397Read ↗

Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor.Semantic proximity Read ↗

APC germline mutations in families with familial adenomatous polyposis.Semantic proximity Read ↗

Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis.Semantic proximity Read ↗

A novel pathogenic single nucleotide germline deletion in APC gene in a four generation Chinese family with familial adenomatous polyposis.Semantic proximity Read ↗

Mutation analysis of the APC gene in unrelated Korean patients with FAP: four novel mutations with unusual phenotype.Semantic proximity Read ↗

Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds.Semantic proximity Read ↗

A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review.Semantic proximity Read ↗

Genetic and clinical characterisation of familial adenomatous polyposis: a population based study.Semantic proximity Read ↗

A new germline stop codon mutation in exon 15 of the APC gene predisposing to familial adenomatous polyposis.Semantic proximity Read ↗

Colon cancer prevention by detection of APC gene mutation in a family with attenuated familial adenomatous polyposis.Semantic proximity Read ↗

Familial adenomatous polyposis (FAP) and its gene, APC.Semantic proximity Read ↗

[A novel APC gene germline mutation in a familial adenomatous polyposis pedigree].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.