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List of works by Kristiina Aittomäki

11q13 is a susceptibility locus for hormone receptor positive breast cancer

scientific article

19p13.1 is a triple-negative-specific breast cancer susceptibility locus

scientific article published on 13 February 2012

2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy

scientific article

7q deletion mapping and expression profiling in uterine fibroids.

scientific article

7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium

scientific article

9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium

scientific article published on 02 August 2012

A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax

scientific article

A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer

scientific article published on 28 July 2002

A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer

scientific article

A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure.

scientific article

A combined analysis of genome-wide association studies in breast cancer

scientific article published on 26 September 2010

A founder mutation in CERKL is a major cause of retinal dystrophy in Finland

scientific article published on 25 October 2017

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

scientific article

A genome-wide association scan on estrogen receptor-negative breast cancer

scientific article

A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.

scientific article

A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium

scientific article

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

scientific article

A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR.

scientific article published on 27 October 2017

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

scientific article

A novel sequence variation in the transactivation regulating domain of the androgen receptor in two infertile Finnish men

scientific article (publication date: June 2003)

A polymorphism in the base excision repair gene PARP2 is associated with differential prognosis by chemotherapy among postmenopausal breast cancer patients

scientific article published on 16 December 2015

A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients

scientific article published on 20 July 2021

ARLTS1 germline variants and the risk for breast, prostate, and colorectal cancer

scientific article

ATM variants and cancer risk in breast cancer patients from Southern Finland

scientific article published on 16 August 2006

AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study

scientific article published on July 2007

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

Altered Expression of MLH1, MSH2, and MSH6 in Predisposition to Hereditary Nonpolyposis Colorectal Cancer

scientific article published in October 2003

An information-theoretic analysis of genetics, gender and age in cancer patients

scientific article

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

scientific article published on 25 April 2015

Analysis of KLHDC8B in familial nodular lymphocyte predominant Hodgkin lymphoma

scientific article published on 22 April 2011

Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer

article

Annexin A1 expression in a pooled breast cancer series: association with tumor subtypes and prognosis

scientific article published on 2 July 2015

Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer

scientific article published on 01 July 2009

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

scientific article

Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with prognosis of estrogen receptor-negative breast cancer after chemotherapy

scientific article

Association analysis identifies 65 new breast cancer risk loci.

scientific article published on 23 October 2017

Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival

scientific article

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

scientific article published on 13 November 2019

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

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

Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer

scientific article published on 10 September 2020

Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

scientific article

Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies

scientific article

Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium

scientific article published on 18 August 2011

BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition

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

scientific article

Basal cytokeratins in breast tumours among BRCA1, BRCA2 and mutation-negative breast cancer families

scientific article published on 14 February 2008

Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors

scientific article

Body mass index and breast cancer survival: a Mendelian randomization analysis

scientific article published in December 2017

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

scientific article published on 11 January 2022

Breast cancer patients with p53 Pro72 homozygous genotype have a poorer survival

scientific article published in July 2005

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

scientific article

Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases

scientific article

Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications

scientific article published on 20 September 2011

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-cancer risk in families with mutations in PALB2

scientific article

CDC73 intragenic deletion in familial primary hyperparathyroidism associated with parathyroid carcinoma

scientific article

CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population

scientific article published on 5 September 2017

CHEK2 variant I157T may be associated with increased breast cancer risk

scientific article published in September 2004

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

scientific article published on 16 December 2019

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility

scientific article

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 02 July 2020

Chorionic gonadotropin beta-gene variants are associated with recurrent miscarriage in two European populations

scientific article published on 09 September 2008

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 18 May 2011

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

scientific article

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article published on 2 November 2011

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

scientific article

Common germline polymorphisms associated with breast cancer-specific survival

scientific article published on 22 April 2015

Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium

scientific article

Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article

Comprehensive analysis of NuMA variation in breast cancer

scientific article

Constitutional mosaicism for a BRCA2 mutation as a cause of early-onset breast cancer

scientific article published on 28 May 2020

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

scholarly article by Mia M Gaudet published in November 2010

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.

scientific article

Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article published in PLoS ONE

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations

scientific article

Cyclin D1 expression is associated with poor prognostic features in estrogen receptor positive breast cancer

scientific article published in February 2008

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Detection of KRAS mutations in liquid biopsies from metastatic colorectal cancer patients using droplet digital PCR, Idylla, and next generation sequencing

scientific article published on 25 November 2020

Distinct expression profile in fumarate-hydratase-deficient uterine fibroids

scientific article published on 30 November 2005

Do mitochondrial mutations cause recurrent miscarriage?

scientific article published on 18 March 2009

Does the Y chromosome have a role in Müllerian aplasia?

scientific article published on 26 March 2009

Effect of oral and transdermal hormone therapy on hyaluronic acid in women with and without a history of intrahepatic cholestasis of pregnancy

scientific article

Effects of follicle-stimulating hormone (FSH) and human chorionic gonadotropin in individuals with an inactivating mutation of the FSH receptor

scientific article published in July 2002

Epigenetics and assisted reproductive technologies

scientific article published on 13 October 2015

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 Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

scientific article

Evaluation of SHOX copy number variations in patients with Müllerian aplasia

scientific article

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

scientific article published on 22 February 2014

Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer

scientific article published on 13 December 2006

Evaluation ofRAD50 in familial breast cancer predisposition

Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

scientific article

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

scientific article

Exome sequencing reveals germline NPAT mutation as a candidate risk factor for Hodgkin lymphoma

scientific article published on 11 May 2011

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

Familial breast cancers without mutations in BRCA1 or BRCA2 have low cyclin E and high cyclin D1 in contrast to cancers in BRCA mutation carriers

scientific article published in April 2008

Family history influences the tumor characteristics and prognosis of breast cancers developing during postmenopausal hormone therapy

scientific article

Family history, genetic testing, and clinical risk prediction: pooled analysis of CHEK2 1100delC in 1,828 bilateral breast cancers and 7,030 controls

scientific article published on January 2009

Fever from the cold--familial cold autoinflammatory syndrome

scientific article

Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families

scientific article published on 01 August 2002

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

scientific article published on 4 February 2015

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

scientific article published on 07 January 2020

Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.

scientific article

Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.

scientific article

Functional characterization of the human FSH receptor with an inactivating Ala189Val mutation

scientific article published in April 2002

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-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication

scientific article published on 12 August 2017

Genetic features of the X chromosome affect pubertal development and testicular degeneration in adolescent boys with Klinefelter syndrome

scientific article published on July 2006

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

scientific article published on 06 October 2016

Genetic predisposition to in situ and invasive lobular carcinoma of the breast

scientific article

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article

Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

scientific article

Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade

scientific article

Genetic variation of ESR1 and its co-activator PPARGC1B is synergistic in augmenting the risk of estrogen receptor-positive breast cancer ⬇️

scientific article

Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

scientific article (publication date: August 2016)

Genetics and assisted reproduction technology

scientific article

Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

scientific article published in September 2016

Genome-wide association analysis identifies three new breast cancer susceptibility loci

scientific article published on 22 January 2012

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

scientific article

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

article

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

scientific article published in April 2013

Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer

scientific article published on 9 December 2013

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 in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)

Genome-wide search for breast cancer linkage in large Icelandic non-BRCA1/2 families

scientific article

Genomic subtypes of breast cancer identified by array-comparative genomic hybridization display distinct molecular and clinical characteristics

scientific article

Germ-line variation at a functional p53 binding site increases susceptibility to breast cancer development

scientific article

Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

scientific article published on 16 June 2020

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

scientific article

Germline variation in TP53 regulatory network genes associates with breast cancer survival and treatment outcome

scientific article

Glycodelin expression associates with differential tumour phenotype and outcome in sporadic and familial non-BRCA1/2 breast cancer patients

article published in 2010

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

scientific article

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

scientific article published on 01 April 2019

Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization

scientific article

Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment

scientific article

Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics

scientific article

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

scientific article published on 10 June 2021

Histopathological features of breast tumours in BRCA1, BRCA2 and mutation-negative breast cancer families

scientific article

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

scientific article

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

scientific article published on 27 March 2013

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 novel genetic markers of breast cancer survival

scientific article published on 18 April 2015

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015

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

scientific article published on 23 October 2017

Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

scientific article published on 19 March 2019

Ingraft chimerism in lung transplantation - a study in a porcine model of obliterative bronchiolitis ⬇️

scientific article published on April 26, 2011

Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer

scientific article

Intrahepatic cholestasis of pregnancy as an indicator of liver and biliary diseases: a population-based study

scientific article published in April 2006

Large genomic rearrangements and germline epimutations in Lynch syndrome

scientific article published on 01 May 2009

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

scientific article published on 01 September 2019

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

scientific article

Long CAG repeats in the AR gene are not associated with infertility in Finnish males

scientific article published on 01 February 2003

Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium

scientific article

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

scientific article published on 19 June 2019

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

Methylation of H19 and its imprinted control region (H19 ICR1) in Müllerian aplasia

scientific article

MiR-34a expression has an effect for lower risk of metastasis and associates with expression patterns predicting clinical outcome in breast cancer

scientific article

MicroRNA related polymorphisms and breast cancer risk

scientific article

Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls

scientific article

Multi-variant pathway association analysis reveals the importance of genetic determinants of estrogen metabolism in breast and endometrial cancer susceptibility

scientific article

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

scientific article published on April 2013

Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer

article

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

scientific article published on 15 February 2018

NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic and predictive factor in breast cancer

scientific article published on 30 May 2008

NQO1 expression correlates inversely with NFκB activation in human breast cancer

article published in 2011

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

scientific article published on 29 March 2009

Nitric oxide metabolites in cervical fluid during pregnancy: further evidence for the role of cervical nitric oxide in cervical ripening

scientific article published in March 2003

No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study

scientific article published on 04 June 2008

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

scientific article published in May 2015

No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.

scientific article published in June 2010

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

scientific article published on 11 December 2008

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

scientific article published on 26 February 2016

No germline FH mutations in familial breast cancer patients

Obstetric and neonatal outcome after oocyte donation in 106 women with Turner syndrome: a Nordic cohort study

scientific article published on 27 March 2013

Other short opinions/comments on moderate/low cancer genetic risk markers in medical practice and the article Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis a

scientific article published on 15 June 2008

Ovarian and breast cancer risks associated with pathogenic variants in RAD51C and RAD51D

scientific article published on 28 February 2020

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

scientific article

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

scientific article published in December 2016

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 5 December 2011

Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium

scientific article published on 03 October 2016

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

scientific article

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

scientific article published on 20 July 2016

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

scientific article published on 15 July 2020

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

scientific article

Postmenopausal estrogen therapy and serum estradiol fatty acid esters in women with and without previous intrahepatic cholestasis of pregnancy

scientific article published in January 2004

Prediction of breast cancer risk based on profiling with common genetic variants

scientific article published on 8 April 2015

Pregnancies after oocyte donation in women with ovarian failure caused by an inactivating mutation in the follicle stimulating hormone receptor ⬇️

scientific article published on January 1, 2002

Prognostic role of HuR in hereditary breast cancer

scientific article published in December 2007

Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.

scientific article published on 10 April 2018

RAD51, XRCC3, and XRCC2 mutation screening in Finnish breast cancer families

scientific article published on 24 February 2015

RAD51B in Familial Breast Cancer

scientific article

RAD51C is a susceptibility gene for ovarian cancer

article

Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1)

article published in 2010

Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients

scientific article published on 25 April 2019

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

scientific article

Relationship of patients' age to histopathological features of breast tumours in BRCA1 and BRCA2 and mutation-negative breast cancer families

scientific article

Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.

scientific article published on 30 June 2009

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

Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy

scientific article published on April 2005

Sex chromosome characteristics and recurrent miscarriage

scientific article published on 04 February 2008

Study of p53 gene mutations and placental expression in recurrent miscarriage cases

scientific article published on March 2009

Surrogacy: outcomes for surrogate mothers, children and the resulting families-a systematic review

scientific article published on 09 October 2015

TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia

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 BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

scientific article published on 20 February 2018

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

scientific article published on 01 November 2019

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

scientific article published on April 2015

The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype

scientific article published on 21 April 2009

The role of genetic breast cancer susceptibility variants as prognostic factors

scientific article

The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li-Fraumeni syndrome and related phenotypes

scientific article published on 27 September 2006

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

scientific article published on 01 March 2020

Utilization of fluorescence in situ hybridization with cytokeratin discriminators in TOP2A assessment of chemotherapy-treated patients with breast cancer

article published in 2012

Variants on the promoter region of PTEN affect breast cancer progression and patient survival

scientific article published on 15 December 2011

Variations of the Amnionless gene in recurrent spontaneous abortions

scientific article published on 10 January 2006

[Fetal diagnosis from the mother's blood--noninvasive screening of chromosomal aberrations]

scientific article published in January 2015

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