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Open AccessJournal ArticleDOI

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

Chunling Hu, +60 more
- 04 Feb 2021 - 
- Vol. 384, Iss: 5, pp 440-451
TLDR
In this paper, population-based estimates of the risk of breast cancer associated with germline pathogenic variants in cancer-predisposition genes are critically needed for risk assessment and risk assessment.
Abstract: 
Background Population-based estimates of the risk of breast cancer associated with germline pathogenic variants in cancer-predisposition genes are critically needed for risk assessment and...

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Citations
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Journal ArticleDOI

Customizing local and systemic therapies for women with early breast cancer: the St. Gallen International Consensus Guidelines for treatment of early breast cancer 2021.

Harold J. Burstein, +8 more
- 01 Oct 2021 - 
TL;DR: The 17th St Gallen International Breast Cancer Consensus Conference as mentioned in this paper was held virtually, owing to the global COVID-19 pandemic, and the theme of this year's conference was "Customizing local and systemic therapies."
Journal ArticleDOI

ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

- 01 Jul 2022 - 
Journal ArticleDOI

Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I)

Jennifer D. Brooks, +30 more
- 04 Jun 2021 - 
TL;DR: The PERSPECTIVE I&I (Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation) project seeks to improve personalized risk assessment to allow for a cost-effective, population-based approach to risk-based screening and determine best practices for implementation in Canada.
Journal ArticleDOI

Medical and surgical care of mesothelioma patients and their relatives carrying germline BAP1 mutations.

Michele Carbone, +51 more
- 01 Apr 2022 - 
TL;DR: The most common malignancies that develop in carriers of BAP1 mutations include diffuse malignant mesothelioma, uveal and cutaneous melanoma, renal cell carcinoma, and less frequently, breast cancer, several types of skin carcinomas, and other tumor types as discussed by the authors .
Journal ArticleDOI

Breast Cancer Screening Strategies for Women With ATM, CHEK2, and PALB2 Pathogenic Variants: A Comparative Modeling Analysis.

Kathryn P. Lowry, +22 more
- 17 Feb 2022 - 
TL;DR: This analysis suggests that annual MRI screening starting at 30 to 35 years followed by annual MRI and mammography at 40 years may reduce breast cancer mortality by more than 50% for women with ATM, CHEK2, and PALB2 pathogenic variants.
References
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Journal ArticleDOI

Association of Risk-Reducing Surgery in BRCA1 or BRCA2 Mutation Carriers With Cancer Risk and Mortality

Susan M. Domchek, +23 more
- 01 Sep 2010 - 
TL;DR: Among a cohort of women with BRCa1 and BRCA2 mutations, the use of risk-reducing mastectomy was associated with a lower risk of breast cancer, first diagnosis of breastcancer, all-cause mortality, breast cancer-specific mortality, and ovarian cancer- specific mortality.
Journal ArticleDOI

Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk

Douglas F. Easton, +16 more
- 03 Jun 2015 - 
TL;DR: An international group of cancer geneticists review the level of evidence for the association of gene variants with the risk of breast cancer and it is difficult to draw firm conclusions from the data because of ascertainment bias and the lack of data from large populations.
Journal ArticleDOI

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

Sheila Seal, +16 more
- 08 Oct 2006 - 
TL;DR: Inactivating truncating mutations of BRIP1, similar to those in BRCA2, cause Fanconi anemia in biallelic carriers and confer susceptibility to breast cancer in monoallelic carriers.
Journal ArticleDOI

Inherited Mutations in 17 Breast Cancer Susceptibility Genes Among a Large Triple-Negative Breast Cancer Cohort Unselected for Family History of Breast Cancer

Fergus J. Couch, +41 more
- 01 Feb 2015 - 
TL;DR: Mutation prevalence estimates suggest that patients with TNBC, regardless of age at diagnosis or family history of cancer, should be considered for germline genetic testing of BRCA1 and BRCa2.
Journal ArticleDOI

Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.

Fergus J. Couch, +17 more
- 01 Sep 2017 - 
TL;DR: Several panel genes are established as high- and moderate-risk breast cancer genes and estimates of breast cancer risk associated with pathogenic variants in these genes among individuals qualifying for clinical genetic testing are provided.
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