4.7 Article

Yield of targeted genotyping for the recurring pathogenic variants in cancer susceptibility genes in a healthy, multiethnic Israeli population

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Medicine, General & Internal

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

Chunling Hu et al.

Summary: This study provides population-based estimates of the prevalence and risk of breast cancer associated with pathogenic variants in known cancer-predisposition genes. The results highlight the varying levels of risk associated with different genes, such as high risk for BRCA1 and BRCA2 and moderate risk for PALB2, as well as associations with specific subtypes of breast cancer for genes like RAD51C and RAD51D.

NEW ENGLAND JOURNAL OF MEDICINE (2021)

Article Medicine, General & Internal

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women

Leila Dorling et al.

Summary: This study sequenced samples from 60,466 women with breast cancer and 53,461 controls using a panel of 34 putative susceptibility genes, identifying associations between protein-truncating variants in certain genes and breast cancer risk. The results provide important information for genetic counseling and define genes that are most clinically useful for predicting breast cancer risk.

NEW ENGLAND JOURNAL OF MEDICINE (2021)

Article Oncology

Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants

Rinat Bernstein-Molho et al.

BREAST CANCER RESEARCH AND TREATMENT (2020)

Article Oncology

Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

Peter D. Beitsch et al.

JOURNAL OF CLINICAL ONCOLOGY (2019)

Article Obstetrics & Gynecology

Cost effectiveness of population based BRCA1 founder mutation testing in Sephardi Jewish women

Shreeya Patel et al.

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2018)

Article Oncology

The yield of targeted genotyping for the recurring mutations in BRCA1/2 in Israel

Rinat Bernstein-Molho et al.

BREAST CANCER RESEARCH AND TREATMENT (2018)

Article Obstetrics & Gynecology

Cost-effectiveness of population based BRCA testing with varying Ashkenazi Jewish ancestry

Ranjit Manchanda et al.

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2017)

Review Oncology

Population genetic testing for cancer susceptibility: founder mutations to genomes

William D. Foulkes et al.

NATURE REVIEWS CLINICAL ONCOLOGY (2016)

Article Oncology

Counselling framework for moderate-penetrance cancer-susceptibility mutations

Nadine Tung et al.

NATURE REVIEWS CLINICAL ONCOLOGY (2016)

Article Genetics & Heredity

Genetic features of Lynch syndrome in the Israeli population

Y. Goldberg et al.

CLINICAL GENETICS (2015)

Review Public, Environmental & Occupational Health

APC Polymorphisms and the Risk of Colorectal Neoplasia: A HuGE Review and Meta-Analysis

Jing Liang et al.

AMERICAN JOURNAL OF EPIDEMIOLOGY (2013)

Article Cardiac & Cardiovascular Systems

Fasting glucose levels within the high normal range predict cardiovascular outcome

Kivity Shaye et al.

AMERICAN HEART JOURNAL (2012)

Article Oncology

Common MUTYH mutations and colorectal cancer risk in multiethnic populations

Flavio Lejbkowicz et al.

FAMILIAL CANCER (2012)

Article Gastroenterology & Hepatology

High Risk of Colorectal and Endometrial Cancer in Ashkenazi Families With the MSH2 A636P Founder Mutation

Bhramar Mukherjee et al.

GASTROENTEROLOGY (2011)

Review Genetics & Heredity

Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2

Nancie Petrucelli et al.

GENETICS IN MEDICINE (2010)

Article Oncology

Screening for Founder Mutations in BRCA1 and BRCA2 in Unselected Jewish Women

Kelly A. Metcalfe et al.

JOURNAL OF CLINICAL ONCOLOGY (2010)