(Q44226465)

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Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalenc

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scholarly article

1 reference

Europe PubMed Central

1 December 2017

Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalenc (English)

1 reference

Europe PubMed Central

1 December 2017

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Inmaculada de Juan Jiménez

1

1 reference

Europe PubMed Central

1 December 2017

Zaida García Casado

2

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Europe PubMed Central

1 December 2017

Sarai Palanca Suela

3

1 reference

Europe PubMed Central

1 December 2017

Eva Esteban Cardeñosa

4

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Europe PubMed Central

1 December 2017

José Antonio López Guerrero

5

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Europe PubMed Central

1 December 2017

Ángel Segura Huerta

6

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Europe PubMed Central

1 December 2017

Isabel Chirivella González

7

1 reference

Europe PubMed Central

1 December 2017

Ana Beatriz Sánchez Heras

8

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Europe PubMed Central

1 December 2017

Ma José Juan Fita

9

1 reference

Europe PubMed Central

1 December 2017

Isabel Tena García

10

1 reference

Europe PubMed Central

1 December 2017

Carmen Guillen Ponce

11

1 reference

Europe PubMed Central

1 December 2017

Eduardo Martínez de Dueñas

12

1 reference

Europe PubMed Central

1 December 2017

Ignacio Romero Noguera

13

1 reference

Europe PubMed Central

1 December 2017

Dolores Salas Trejo

14

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Europe PubMed Central

1 December 2017

Mercedes Goicoechea Sáez

15

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Europe PubMed Central

1 December 2017

Pascual Bolufer Gilabert

16

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Europe PubMed Central

1 December 2017

language of work or name

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based on heuristic

inferred from title

publication date

1 December 2013

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Europe PubMed Central

1 December 2017

Familial Cancer

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Europe PubMed Central

1 December 2017

12

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Europe PubMed Central

1 December 2017

4

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Europe PubMed Central

1 December 2017

767-777

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Europe PubMed Central

1 December 2017

https://scigraph.springernature.com/pub.10.1007/s10689-013-9622-2

0 references

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9622-2

21 January 2018

Identification of the breast cancer susceptibility gene BRCA2

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9622-2

21 January 2018

The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9622-2

21 January 2018

A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9622-2

21 January 2018

Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis.

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9622-2

21 January 2018

Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9622-2

21 January 2018

Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9622-2

21 January 2018

Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9622-2

21 January 2018

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9622-2

21 January 2018

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9622-2

21 January 2018

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9622-2

21 January 2018

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9622-2

21 January 2018

Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling.

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9622-2

21 January 2018

Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families from Aragon (Spain): two novel truncating mutations and a large genomic deletion in BRCA1.

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9622-2

21 January 2018

High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain).

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9622-2

21 January 2018

Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9622-2

21 January 2018

Broad BRCA1 and BRCA2 mutational spectrum and high incidence of recurrent and novel mutations in the eastern Spain population

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9622-2

21 January 2018

The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9622-2

21 January 2018

Age-dependent penetrance of different germline mutations in the BRCA1 gene

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9622-2

21 January 2018

Mutaciones de BRCA1 y BRCA2 en familias estudiadas en el Programa de Consejo Genético en el Cáncer de la Comunidad Valenciana

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9622-2

21 January 2018

Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families of Eastern Spain

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9622-2

21 January 2018

Different Expressivity of BRCA1 and BRCA2: Analysis of 179 Italian Pedigrees with Identified Mutation

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9622-2

21 January 2018

Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9622-2

21 January 2018

Breast tumor immunophenotype of BRCA1-mutation carriers is influenced by age at diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23479189

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study

1 reference

https://pubmed.ncbi.nlm.nih.gov/23479189

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified

1 reference

https://pubmed.ncbi.nlm.nih.gov/23479189

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recurrent germline mutations in BRCA1 and BRCA2 genes in high risk families in Israel

1 reference

https://pubmed.ncbi.nlm.nih.gov/23479189

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ethnic differences in cancer risk resulting from genetic variation

1 reference

https://pubmed.ncbi.nlm.nih.gov/23479189

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain

1 reference

https://pubmed.ncbi.nlm.nih.gov/23479189

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

World Medical Association Declaration of Helsinki: ethical principles for medical research involving human subjects

1 reference

https://pubmed.ncbi.nlm.nih.gov/23479189

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/23479189

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Population genetics of BRCA1 and BRCA2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23479189

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10689-013-9622-2

1 reference

Europe PubMed Central

1 December 2017

1 reference

Europe PubMed Central

1 December 2017

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