Cargando…

Novel de novo BRCA2 mutation in a patient with a family history of breast cancer

BACKGROUND: BRCA2 germ-line mutations predispose to breast and ovarian cancer. Mutations are widespread and unclassified splice variants are frequently encountered. We describe the parental origin and functional characterization of a novel de novo BRCA2 splice site mutation found in a patient exhibi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hansen, Thomas V O, Bisgaard, Marie Luise, Jønson, Lars, Albrechtsen, Anders, Filtenborg-Barnkob, Bettina, Eiberg, Hans, Ejlertsen, Bent, Nielsen, Finn C
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2008
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2478678/ https://www.ncbi.nlm.nih.gov/pubmed/18597679 http://dx.doi.org/10.1186/1471-2350-9-58

Ejemplares similares

Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations
por: Steffensen, Ane Y., et al.
Publicado: (2010)

Functional characterization of BRCA1 gene variants by mini-gene splicing assay
por: Steffensen, Ane Y, et al.
Publicado: (2014)

CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer
por: Margolin, Sara, et al.
Publicado: (2007)

Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic
por: Ahlborn, Lise B., et al.
Publicado: (2015)

Classifications within Molecular Subtypes Enables Identification of BRCA1/BRCA2 Mutation Carriers by RNA Tumor Profiling
por: Larsen, Martin J., et al.
Publicado: (2013)

A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family
por: Anjum, Iram, et al.
Publicado: (2010)

Whole genome sequencing of breast cancer
por: Rossing, Maria, et al.
Publicado: (2019)

Association of polymorphisms with a family history of cancer and the presence of germline mutations in the BRCA1/BRCA2 genes
por: Fernandes, Gabriela C., et al.
Publicado: (2016)

Cancer Spectrum, Family History of Cancer and Overall Survival in Men with Germline BRCA1 or BRCA2 Mutations
por: Reichl, Florian, et al.
Publicado: (2021)

Mutations of the BRCA1 and BRCA2 Genes in Danish Patients Diagnosed at Young Age with Multi-Centric or Bilateral Breast Cancer
por: Bergthorsson, J. T., et al.
Publicado: (1999)

BRCA1 and BRCA2 Germline Mutations in Malaysian Women with Early-Onset Breast Cancer without a Family History
por: Toh, Gaik Theng, et al.
Publicado: (2008)

The impact of reproductive life on breast cancer risk in women with family history or BRCA mutation
por: Toss, Angela, et al.
Publicado: (2016)

Characterization of BRCA1/2 mutations in patients with family history of breast cancer in Armenia
por: Atshemyan, Sofi, et al.
Publicado: (2017)

A clinical case of diagnosis of breast cancer in patients with family history of BRCA mutations 1
por: Aitmagambetova, Marzhan, et al.
Publicado: (2021)

Hereditary Susceptibility to Breast Cancer: Significance of Age of Onset in Family History and Contribution of BRCA1 and BRCA2
por: Frank, Thomas S., et al.
Publicado: (1999)

Log odds of carrying an Ancestral Mutation in BRCA1 or BRCA2 for a Defined personal and family history in an Ashkenazi Jewish woman (LAMBDA)
por: Apicella, Carmel, et al.
Publicado: (2003)

A Novel Mutation-BRCA1 Associated Hereditary Haplotype of Intragenic Markers of BRCA1 Gene in a Family with History of Breast Cancer
por: Miresmaeili, Seyed Mohsen, et al.
Publicado: (2019)

Familial Colorectal Cancer Type X
por: Zetner, Diana Bregner, et al.
Publicado: (2017)

Association between family history, mutation locations, and prevalence of BRCA1 or 2 mutations in ovarian cancer patients
por: Singer, Christian F., et al.
Publicado: (2019)

Uncovering the Genetic History of the Present-Day Greenlandic Population
por: Moltke, Ida, et al.
Publicado: (2015)

Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history
por: Salmi, Fatiha, et al.
Publicado: (2021)

Haplotype analysis in German families with recurrent BRCA1 and BRCA2 mutations
por: Wappenschmidt, B, et al.
Publicado: (2001)

Genetic insights into fetal growth and measures of glycaemic regulation and adiposity in adulthood: a family-based study
por: Hollensted, Mette, et al.
Publicado: (2018)

BRCA1 mutations in women with familial or early-onset breast cancer and BRCA2 mutations in familial cancer in Estonia
por: Tamboom, Kristiina, et al.
Publicado: (2010)

A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history
por: Gómez García, Encarna B, et al.
Publicado: (2009)

Breast cancer risks in women with a family history of breast or ovarian cancer who have tested negative for a BRCA1 or BRCA2 mutation
por: Metcalfe, K A, et al.
Publicado: (2009)

Limited significance of family history for presence of BRCA1 gene mutation in Polish breast and ovarian cancer cases
por: Brozek, Izabela, et al.
Publicado: (2012)

Cost-effectiveness of Population Screening for BRCA Mutations in Ashkenazi Jewish Women Compared With Family History–Based Testing
por: Manchanda, Ranjit, et al.
Publicado: (2014)

Prostate Cancer in a Patient with a Family History of BRCA Mutation: a Case Report and Literature Review
por: Song, Won Hoon, et al.
Publicado: (2017)

A cohort analysis of men with a family history of BRCA1/2 and Lynch mutations for prostate cancer
por: Kerr, Lynne, et al.
Publicado: (2016)

Breast cancer survival in Nordic BRCA2 mutation carriers—unconventional association with oestrogen receptor status
por: Olafsdottir, Elinborg J., et al.
Publicado: (2020)

Low-level constitutional mosaicism of a de novoBRCA1 gene mutation
por: Friedman, E, et al.
Publicado: (2015)

A catalog of curated breast cancer genes
por: Bose, Muthiah, et al.
Publicado: (2021)

Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios
por: Besenbacher, Søren, et al.
Publicado: (2015)

Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon
por: Jalkh, Nadine, et al.
Publicado: (2012)

Age and Geographical Distribution in Families with BRCA1/BRCA2 Mutations in the Slovak Republic
por: Ciernikova, Sona, et al.
Publicado: (2006)

BRCA1 and BRCA2 in breast cancer families from Wales: moderate mutation frequency and two recurrent mutations in BRCA1.
por: Lancaster, J. M., et al.
Publicado: (1998)

Family and Population-Based Studies of Variation within the Ghrelin Receptor Locus in Relation to Measures of Obesity
por: Gjesing, Anette P., et al.
Publicado: (2010)

Clinical implications of intrinsic molecular subtypes of breast cancer for sentinel node status
por: Rossing, Maria, et al.
Publicado: (2021)

Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness
por: Andersen, Lars v. B., et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_uc3n4f9pqrejehhdsmr62vhnl5