Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity

Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2

(2023) Siddhartha Yadav et al.   JOURNAL OF CLINICAL ONCOLOGY

Unexpected finding of a rare pathogenic germline BRCA1 variant in an intrahepatic cholangiocarcinoma using the Oncomine Focus DNA assay: clinical and diagnostic implications

(2023) Maria De Bonis et al.   MOLECULAR BIOLOGY REPORTS

Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation

(2022) Maria Teresa Vietri et al.   Genes

Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa

(2022) Oubaida ElBiad et al.   BMC CANCER

Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews

(2022) S. Lieberman et al.   BREAST CANCER RESEARCH AND TREATMENT

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing

(2022) Rodrigo Santa Cruz Guindalini et al.   Scientific Reports

Double jeopardy? A closer look at cancer histories of individuals with multiple germline pathogenic variants.

(2022) Carolyn Horton et al.   JOURNAL OF CLINICAL ONCOLOGY

Call for action: expanding global access to hereditary cancer genetic testing

(2022) Brittany Bychkovsky et al.   LANCET ONCOLOGY

Ethnic‐specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population

(2022) Zixin Qin et al.   INTERNATIONAL JOURNAL OF CANCER

A Population-Based Study of Genes Previously Implicated in Breast Cancer

(2021) Chunling Hu et al.   NEW ENGLAND JOURNAL OF MEDICINE

PALB2 mutations and prostate cancer risk and survival

(2021) Dominika Wokołorczyk et al.   BRITISH JOURNAL OF CANCER

The ATM Gene in Breast Cancer: Its Relevance in Clinical Practice

(2021) Luigia Stefania Stucci et al.   Genes

BRCA mutations and gastrointestinal cancers: When to expect the unexpected?

(2021) Elena Maccaroni et al.   World Journal of Clinical Oncology

Inherited TP53 Variants and Risk of Prostate Cancer

(2021) Kara N. Maxwell et al.   EUROPEAN UROLOGY

Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population

(2021) Lu Shen et al.   Frontiers in Oncology

BRCA1 c.5470_5477del, a founder mutation in Chinese Han breast cancer patients

(2020) Hua Meng et al.   INTERNATIONAL JOURNAL OF CANCER

Germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors

(2020) Chihiro Hata et al.   JOURNAL OF HUMAN GENETICS

Frequency and spectrum of founder and non-founder BRCA1 and BRCA2 mutations in a large series of Russian breast cancer and ovarian cancer patients

(2020) Anna P. Sokolenko et al.   BREAST CANCER RESEARCH AND TREATMENT

Update on multi‐gene panel testing and communication of genetic test results

(2020) Sonya Reid et al.   Breast Journal

Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications

(2020) Andreia Brandão et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Germline BRCA Mutation and Clinical Outcomes in Breast Cancer Patients Focusing on Survival and Failure Patterns: A Long-Term Follow-Up Study of Koreans

(2020) Hakyoung Kim et al.   Medicina-Lithuania

Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer

(2019) Petra Kleiblova et al.   INTERNATIONAL JOURNAL OF CANCER

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

(2019) Yael Laitman et al.   HUMAN MUTATION

The spectrum of mutations predisposing to familial breast cancer in Poland

(2019) Cezary Cybulski et al.   INTERNATIONAL JOURNAL OF CANCER

One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene

(2019) Florentia Fostira et al.   JOURNAL OF MEDICAL GENETICS

Prevalence and founder effect of the BRCA1 p.(Val1833Met) variant in the Greek population, with further evidence for pathogenicity and risk modification

(2019) Myrto Papamentzelopoulou et al.   Cancer Genetics

Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer

(2019) Gulnur Zhunussova et al.   Frontiers in Oncology

Spectrum of BRCA1/BRCA2 variants in 1419 Turkish breast and ovarian cancer patients: a single center study

(2019) Taha Bahsi et al.   Turkish Journal of Biochemistry-Turk Biyokimya Dergisi

Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations

(2018) Jaya Singh et al.   BREAST CANCER RESEARCH AND TREATMENT

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

(2018) Timothy R. Rebbeck et al.   HUMAN MUTATION

OUP accepted manuscript

(2018)   JNCI-Journal of the National Cancer Institute

A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer

(2018) Yishuo Wu et al.   PROSTATE

OUP accepted manuscript

(2018)   JNCI-Journal of the National Cancer Institute

Inherited NBN Mutations and Prostate Cancer Risk and Survival

(2018) Bogna Rusak et al.   Cancer Research and Treatment

Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk

(2017) Jennifer L Caswell-Jin et al.   GENETICS IN MEDICINE

Rapid detection of BRCA1/2 recurrent mutations in Chinese breast and ovarian cancer patients with multiplex SNaPshot genotyping panels

(2017) Ava Kwong et al.   Oncotarget

Germline BRCA screening in breast cancer patients in Tatar women population

(2016) E. Shagimardanova et al.   ANNALS OF ONCOLOGY

Genetics of triple-negative breast cancer: Implications for patient care

(2016) Anosheh Afghahi et al.   CURRENT PROBLEMS IN CANCER

Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer

(2016) Nadine Tung et al.   JOURNAL OF CLINICAL ONCOLOGY

Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India

(2016) Ashraf U Mannan et al.   JOURNAL OF HUMAN GENETICS

Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer

(2016) Po-Han Lin et al.   Oncotarget

HBOC multi-gene panel testing: comparison of two sequencing centers

(2015) Christopher Schroeder et al.   BREAST CANCER RESEARCH AND TREATMENT

The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study

(2015) Eunyoung Kang et al.   BREAST CANCER RESEARCH AND TREATMENT

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing

(2015) Lisa R. Susswein et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients

(2015) Stephen E. Lincoln et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management

(2015) Thomas Paul Slavin et al.   Frontiers in Oncology

BRCA1 Gene Exon 11 Mutations in Uighur and Han Women with Early-onset Sporadic Breast Cancer in the Northwest Region of China

(2014) Yu-Wen Cao et al.   Asian Pacific Journal of Cancer Prevention

Clinical Characteristics of Ovarian Cancer Classified by BRCA1, BRCA2, and RAD51C Status

(2014) J. M. Cunningham et al.   Scientific Reports

BRCA1 gene mutations frequency estimation by allele-specific real-time PCR of pooled genomic DNA samples

(2013) Maksim S. Anisimenko et al.   BREAST

Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study

(2013) C M Phelan et al.   BRITISH JOURNAL OF CANCER

Prevalence ofBRCA1andBRCA2Germline Mutations in Breast Cancer Women of Multiple Ethnic Region in Northwest China

(2013) Jianghua Ou et al.   Journal of Breast Cancer

Comparative In Vitro and In Silico Analyses of Variants in Splicing Regions of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic Mutations

(2013) Mara Colombo et al.   PLoS One

Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer

(2012) Haeyoung Kim et al.   BREAST CANCER RESEARCH AND TREATMENT

Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: The Korean Hereditary Breast Cancer (KOHBRA) Study

(2012) Byung Ho Son et al.   BREAST CANCER RESEARCH AND TREATMENT

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control

(2010) Ramūnas Janavičius   EPMA Journal

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Breast cancer susceptibility: current knowledge and implications for genetic counselling

(2008) Tim Ripperger et al.   EUROPEAN JOURNAL OF HUMAN GENETICS