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

BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland.

Oncology reports - 1 Jan 2008

Ratajska Magdalena, Brozek Izabela, Senkus-Konefka Elzbieta, Jassem Jacek, Stepnowska Magdalena, Palomba Grazia, Pisano Marina, Casula Milena, Palmieri Giuseppe, Borg Ake, Limon Janusz

Abstract excerpt

Sixty-four Polish families with a history of breast and/or ovarian cancer were screened for mutations in the BRCA1/2 genes using a combination of denaturing high performance liquid chromatography (DHPLC) and sequencing. Two thirds (43/64; 67%) of the families were found to carry deleterious mutations, of which the most frequent were BRCA1 5382insC (n=22/43; 51%) and Cys61Gly (n=9/43; 20%). Two other recurrent...

Read the complete abstract on PubMed

Topics

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

Share to Breast Neoplasms, Male
Share to Chromatography, High Pressure Liquid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Founder Effect

Share to Gene Rearrangement

Share to Genes, BRCA1

Share to Genes, BRCA2

Share to Poland

Source

Identifiers

PMID: 18097605

Genes

BRCA1
BRCA2

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland.PMID 18097605Read ↗

BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern PolandSemantic proximity Read ↗

Large BRCA1 and BRCA2 genomic rearrangements in Polish high-risk breast and ovarian cancer families.Semantic proximity Read ↗

Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene.Semantic proximity Read ↗

Comprehensive BRCA mutation analysis in the Greek population. Experience from a single clinical diagnostic center.Semantic proximity Read ↗

A high proportion of founder BRCA1 mutations in Polish breast cancer families.Semantic proximity Read ↗

Novel germline mutations in BRCA2 gene among breast and breast-ovarian cancer families from Poland.Semantic proximity Read ↗

Prevalence of the most frequent BRCA1 mutations in Polish population.Semantic proximity Read ↗

Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.Semantic proximity Read ↗

Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern PolandSemantic proximity Read ↗

Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?Semantic proximity Read ↗

High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech RepublicSemantic proximity Read ↗

Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families.Semantic proximity Read ↗

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