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List of works by Sofia Khan

A genome wide meta-analysis study for identification of common variation associated with breast cancer prognosis

scientific article

A survey of localized sequence rearrangements in human DNA.

scientific article published on 19 December 2017

Abstract 3274: SNP-SNP interaction analyses of NQO1 and NF-κB signaling pathway genes on breast cancer survival and treatment outcome

scientific article published on 30 September 2014

An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression

scientific article

Association analysis identifies 65 new breast cancer risk loci.

scientific article published on 23 October 2017

Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer

scientific article

Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

scientific article published on 06 April 2016

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

scientific article published on 31 December 2014

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

scientific article

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

scientific article

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-cancer risk in families with mutations in PALB2

scientific article

COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

scientific article published on 21 June 2013

Common germline polymorphisms associated with breast cancer-specific survival

scientific article published on 22 April 2015

Copy number analysis indicates monoclonal origin of lethal metastatic prostate cancer

scientific article

Deep learning tools are top performers in long non-coding RNA prediction

publication published on 01 May 2022

Differences in definitive endoderm induction approaches using growth factors and small molecules

scientific article published on 16 October 2017

Eukaryotic translation initiation factor 4E (eIF4E) expression is associated with breast cancer tumor phenotype and predicts survival after anthracycline chemotherapy treatment

scientific article published on 24 August 2013

Evaluation of the RHINO gene for breast cancer predisposition in Finnish breast cancer families

scientific article published on 22 February 2014

Evaluation of tools for identifying large copy number variations from ultra-low-coverage whole-genome sequencing data

scientific article published on 17 May 2021

Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

scientific article published on 03 September 2016

Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer

scientific article

FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome

scientific article published on 20 August 2016

FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population

scientific article published on 12 July 2017

Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).

scientific article published on 07 September 2016

Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus

scientific article

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

scientific article

Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.

scientific article published on 4 February 2015

Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

scientific article

Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk

scientific article

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

scientific article published on 7 September 2016

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

scientific article published on 27 March 2013

Gene expression profiles in human and mouse primary cells provide new insights into the differential actions of vitamin D3 metabolites

scientific article

Genetic modifiers of CHEK2*1100delC-associated breast cancer risk

scientific article published on 06 October 2016

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

scientific article

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

Genome-wide association study of germline variants and breast cancer-specific mortality

scientific article published on 21 February 2019

Germline variation in ADAMTSL1 is associated with prognosis following breast cancer treatment in young women

scientific article published on 21 November 2017

High miR-30 Expression Associates with Improved Breast Cancer Patient Survival and Treatment Outcome

scientific article published on 10 June 2021

INPP4B and RAD50 have an interactive effect on survival after breast cancer

scientific article published on 21 December 2014

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

scientific article

Identification of differentially expressed genes after PPM1D silencing in breast cancer

scientific article published on 30 October 2007

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

scientific article published on 27 April 2016

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

scientific article

Identification of inherited genetic variations influencing prognosis in early-onset breast cancer

scientific journal article

Identification of novel genetic markers of breast cancer survival

scientific article published on 18 April 2015

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

scientific article published on 23 October 2017

Meta-analysis of three genome-wide association studies identifies two loci that predict survival and treatment outcome in breast cancer

scientific article published on 28 November 2017

Metagenomics analysis of gut microbiota in response to diet intervention and gestational diabetes in overweight and obese women: a randomised, double-blind, placebo-controlled clinical trial

scientific article published on 24 August 2020

MicroRNA related polymorphisms and breast cancer risk

scientific article

Polygenic risk score is associated with increased disease risk in 52 Finnish breast cancer families

scientific article published on 20 July 2016

Polymorphism at 19q13.41 Predicts Breast Cancer Survival Specifically after Endocrine Therapy

scientific article

Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

scientific article published on 11 June 2015

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

scientific article

RAD51B in Familial Breast Cancer

scientific article

Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations

scientific article published on 01 June 2012

SNP-SNP interaction analysis of NF-κB signaling pathway on breast cancer survival

scientific article published on 22 July 2015

Screening of HELQ in breast and ovarian cancer families

scientific article published on 01 January 2016

Spectrum of disease-causing mutations in protein secondary structures

scientific article

TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer

scientific article published on 5 February 2017

The SNP rs6500843 in 16p13.3 is associated with survival specifically among chemotherapy-treated breast cancer patients

scientific article published on April 2015

Tool evaluation for the detection of variably sized indels from next generation whole genome and targeted sequencing data

scientific article published on 17 February 2022

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