K3326X and other C-terminal BRCA2 variants implicated in hereditary cancer syndromes: a review

S Baughan, MA Tainsky - Cancers, 2021 - mdpi.com
Simple Summary The cancer associated protein BRCA2 is the subject of intense continual
study. Because of this, new insights into the relation of specific variants of this gene and …

Genetic epidemiology of BRCA1

F Couch - Cancer biology & therapy, 2004 - Taylor & Francis
Since the identification of the BRCA1 gene 10 years ago much has been learned about the
role of the BRCA1 protein in cancer development. In particular, genetic and epidemiological …

BRCA2 germline mutation carrier with five malignancies: a case report

E Su, Y Christinat, T McKee, S Azzarello-Burri… - Hereditary Cancer in …, 2024 - Springer
Background BRCA2 germline mutations are known to predispose carriers to various cancer
types, including breast, ovarian, pancreatic and prostate cancer. An association with …

A decade of discovery in cancer genomics

K Offit - Nature reviews Clinical oncology, 2014 - nature.com
Over the past decade, genetic testing for rare inherited mutations, such as BRCA1 and
BRCA2 mutations, has been successfully incorporated into clinical practice. Next-generation …

Understanding Germ-Line Mutations in BRCA1

CI Szabo, T Worley, ANA Monteiro - Cancer biology & therapy, 2004 - Taylor & Francis
Germ-line mutations in BRCA1 account for the majority of familial breast and ovarian cancer
cases and development of cancer in individuals who carry such mutations requires somatic …

No Evidence for the Pathogenicity of the BRCA2 c.6937 + 594T>G Deep Intronic Variant: A Case–Control Analysis

J Dutil, L Godoy, R Rivera-Lugo, N Arroyo… - Genetic Testing and …, 2018 - liebertpub.com
Background: The role of deep intronic variants in hereditary cancer susceptibility has been
largely understudied. Previously, the BRCA2 c. 6937+ 594T> G variant has been shown to …

Twenty-three novel BRCA1 and BRCA2 sequence variations identified in a cohort of Swiss breast and ovarian cancer families

P Maillet, PO Chappuis, M Khoshbeen-Boudal… - Cancer genetics and …, 2006 - Elsevier
BRCA1 and BRCA2 are the major genes predisposing to breast–ovarian cancer (ie, breast
or ovarian cancer or both). Since 1994, hundreds of distinct germline alterations have been …

[引用][C] Breast Cancer in Carriers of BRCA1 and BRCA2 Mutations: Tackling a Molecular and Clinical Conundrum

DA Haber - Journal of clinical oncology, 1999 - ascopubs.org
THE IDENTIFICATION OF BRCA1 and BRCA21, 2 marked the first time that highly penetrant
cancer predisposition genes were linked to the development of a common cancer, raising …

The role of BRCA1/2 in hereditary and familial breast and ovarian cancers

YM Hawsawi, NS Al‐Numair… - Molecular genetics & …, 2019 - Wiley Online Library
Background BRCA1/2 pathogenic variants have become associated with familial breast and
ovarian cancers, and hereditary cancer‐predisposition syndrome. With advances in …

A Molecular Characterization of the Allelic Expression of the BRCA1 Founder Δ9–12 Pathogenic Variant and Its Potential Clinical Relevance in Hereditary Cancer

J Dominguez-Ortiz, RM Álvarez-Gómez… - International Journal of …, 2024 - mdpi.com
Hereditary breast and ovarian cancer (HBOC) syndrome is a genetic condition that
increases the risk of breast cancer by 80% and that of ovarian cancer by 40%. The most …