Nature Search

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Oestrogen negative breast cancer is associated with a poor prognosis. In this study, the authors perform a meta-analysis of 11 breast cancer genome-wide association studies and identify four new loci associated with oestrogen negative breast cancer risk. These findings may aid in stratifying patients in the clinic.

Fergus J. Couch
Karoline B. Kuchenbaecker
Antonis C. Antoniou
ResearchOpen Access27 Apr 2016
Nature Communications

Volume: 7, P: 1-13
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Paul Pharoah and colleagues report the results of a large genome-wide association study of ovarian cancer. They identify new susceptibility loci for different epithelial ovarian cancer histotypes and use integrated analyses of genes and regulatory features at each locus to predict candidate susceptibility genes, including OBFC1.

Catherine M Phelan
Karoline B Kuchenbaecker
Paul D P Pharoah
Research27 Mar 2017
Nature Genetics

Volume: 49, P: 680-691
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Stig Bojesen, Georgia Chenevix-Trench, Alison Dunning and colleagues report common variants at the TERT-CLPTM1L locus associated with mean telomere length measured in whole blood. They also identify associations at this locus to breast or ovarian cancer susceptibility and report functional studies in breast and ovarian cancer tissue and cell lines.

Stig E Bojesen
Karen A Pooley
Alison M Dunning
Research27 Mar 2013
Nature Genetics

Volume: 45, P: 371-384
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Breast cancer risk for BRCA1/BRCA2 mutation carriers varies depending on other genetic factors. Here, the authors perform a case-only genome-wide association study and highlight novel loci associated with breast cancer risk for BRCA1/BRCA2 mutation carriers.

Juliette Coignard
Michael Lush
Antonis C. Antoniou
ResearchOpen Access17 Feb 2021
Nature Communications

Volume: 12, P: 1-22
Dietary strategies of Pleistocene Pongo sp. and Homo erectus on Java (Indonesia)

Trace element ratios (strontium/calcium) in teeth of Pleistocene Homo erectus and fossil orangutans (Pongo sp.) reveal different dietary strategies and contrasting adaptations to seasonal food resources. H. erectus but not Pongo sp. was able to buffer against seasonal food oscillations by exploiting more varied food sources.

Jülide Kubat
Alessia Nava
Wolfgang Müller
Research16 Jan 2023
Nature Ecology & Evolution

Volume: 7, P: 279-289
Functional characterization of BRCA1 gene variants by mini-gene splicing assay

Ane Y Steffensen
Mette Dandanell
Thomas vO Hansen
ResearchOpen Access26 Mar 2014
European Journal of Human Genetics

Volume: 22, P: 1362-1368
Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA)

Tommy Gerdes
Maria Kirchhoff
Claes Lundsteen
Research13 Oct 2004
European Journal of Human Genetics

Volume: 13, P: 171-175
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Roger Milne and colleagues conduct a genome-wide association study for estrogen receptor (ER)-negative breast cancer combined with BRCA1 mutation carriers in a large cohort. They identify ten new risk variants and find high genetic correlation between breast cancer risk for BRCA1 mutation carriers and risk of ER-negative breast cancer in the general population.

Roger L Milne
Karoline B Kuchenbaecker
Jacques Simard
Research23 Oct 2017
Nature Genetics

Volume: 49, P: 1767-1778
Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Georgia Chenevix-Trench and colleagues report meta-analyses of genome-wide association studies identifying six loci newly associated with epithelial ovarian cancer (EOC). They also test variants at the 12 known and 6 new EOC susceptibility loci for association in BRCA1 and BRCA2 mutation carriers.

Karoline B Kuchenbaecker
Susan J Ramus
Georgia Chenevix-Trench
Research12 Jan 2015
Nature Genetics

Volume: 47, P: 164-171
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1

Birgitte Lane and colleagues show that Ferguson-Smith disease, an autosomal dominant skin cancer condition characterized by the development of multiple self-healing tumors, is caused by a disease-specific spectrum of mutations in TGFBR1.

David R Goudie
Mariella D'Alessandro
E Birgitte Lane
Research27 Feb 2011
Nature Genetics

Volume: 43, P: 365-369
Direct to consumer genetic testing in Denmark—public knowledge, use, and attitudes

Anne-Marie Gerdes
Line Nicolaisen
Birgitte Rode Diness
Research01 Mar 2021
European Journal of Human Genetics

Volume: 29, P: 851-860
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population

Fergus Couch and colleagues report a genome-wide association study for modifiers of breast cancer susceptibility in BRCA1 mutation carriers. They identify a locus at 19p13 associated with breast cancer risk in BRCA1 mutation carriers, and further replication studies identify this locus as associated with estrogen receptor–negative breast cancer in the general population.

Antonis C Antoniou
Xianshu Wang
Fergus J Couch
Research19 Sept 2010
Nature Genetics

Volume: 42, P: 885-892
A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposis

Mays Altaraihi
Anne-Marie Gerdes
Karin Wadt
ResearchOpen Access10 Oct 2019
Human Genome Variation

Volume: 6, P: 1-3
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants

Taru A. Muranen
Anna Morra
Heli Nevanlinna
ResearchOpen Access12 May 2023
npj Breast Cancer

Volume: 9, P: 1-15
Breast cancer survival in Nordic BRCA2 mutation carriers—unconventional association with oestrogen receptor status

Elinborg J. Olafsdottir
Ake Borg
Laufey Tryggvadottir
ResearchOpen Access17 Sept 2020
British Journal of Cancer

Volume: 123, P: 1608-1615
Tumour-infiltrating CD4-, CD8- and FOXP3-positive immune cells as predictive markers of mortality in BRCA1- and BRCA2-associated breast cancer

Nanna Jørgensen
Thomas Vauvert F. Hviid
Anne-Vibeke Lænkholm
Research07 Aug 2021
British Journal of Cancer

Volume: 125, P: 1388-1398
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Inge M. M. Lakeman
Alexandra J. van den Broek
Marjanka K. Schmidt
ResearchOpen Access10 Jun 2021
Genetics in Medicine

Volume: 23, P: 1726-1737
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Daniel R. Barnes
Matti A. Rookus
Antonis C. Antoniou
ResearchOpen Access15 Jul 2020
Genetics in Medicine

Volume: 22, P: 1653-1666
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Gisella Figlioli
Massimo Bogliolo
Paolo Peterlongo
ResearchOpen Access01 Nov 2019
npj Breast Cancer

Volume: 5, P: 1-14
Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation

Maria Rossing
Anders Albrechtsen
Thomas vO Hansen
Research13 Oct 2016
Journal of Human Genetics

Volume: 62, P: 151-157

Search

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Dietary strategies of Pleistocene Pongo sp. and Homo erectus on Java (Indonesia)

Functional characterization of BRCA1 gene variants by mini-gene splicing assay

Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA)

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1

Direct to consumer genetic testing in Denmark—public knowledge, use, and attitudes

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population

A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposis

PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants

Breast cancer survival in Nordic BRCA2 mutation carriers—unconventional association with oestrogen receptor status

Tumour-infiltrating CD4-, CD8- and FOXP3-positive immune cells as predictive markers of mortality in BRCA1- and BRCA2-associated breast cancer

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation

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