scholarly journals Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer

2007 ◽  
Vol 97 (6) ◽  
pp. 826-831 ◽  
Author(s):  
I Agalliu ◽  
E Karlins ◽  
E M Kwon ◽  
L M Iwasaki ◽  
A Diamond ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Early Onset ◽  
Brca2 Gene ◽  
Germline Mutations

scholarly journals Two Percent of Men with Early-Onset Prostate Cancer Harbor Germline Mutations in the BRCA2 Gene

2003 ◽  
Vol 72 (1) ◽  
pp. 1-12 ◽  
Author(s):  
Stephen M. Edwards ◽  
Zsofia Kote-Jarai ◽  
Julia Meitz ◽  
Rifat Hamoudi ◽  
Questa Hope ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Early Onset ◽  
Brca2 Gene ◽  
Germline Mutations

The role of germline mutations in the BRCA1/2 and mismatch repair genes in men ascertained for early-onset and/or familial prostate cancer

2015 ◽  
Vol 15 (1) ◽  
pp. 111-121 ◽  
Author(s):  
Sofia Maia ◽  
Marta Cardoso ◽  
Paula Paulo ◽  
Manuela Pinheiro ◽  
Pedro Pinto ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Mismatch Repair ◽  
Early Onset ◽  
Germline Mutations ◽  
Mismatch Repair Genes ◽  
Repair Genes

scholarly journals Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco

BMC Cancer ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Joaira Bakkach ◽  
Mohamed Mansouri ◽  
Touria Derkaoui ◽  
Ali Loudiyi ◽  
ElMostafa El Fahime ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Early Onset ◽  
Brca2 Gene ◽  
Germline Mutations ◽  
Genetic Alterations ◽  
Early Onset Breast Cancer ◽  
Brca1 And Brca2 ◽  
Brca Mutations ◽  
History Of

Abstract Background To date, the contribution of BRCA1/2 mutations in Moroccan early onset breast cancer patients remains unknown. Here we assess these genetic alterations for the first time in a cohort from North of Morocco. Methods Thirty-three patients diagnosed with breast cancer at the age of ≤40 years were recruited irrespective of breast and/or ovarian cancer family history. Coding regions and intron-exon boundaries of BRCA1 and BRCA2 genes were sequenced from peripheral blood DNA using Ion Proton (Thermo Fisher Scientific) next generation sequencing platform. Results Overall, five BRCA germline mutations were identified (15.1%). The frequency of mutations among patients with family history of breast cancer was 16.7%. Three mutations were found in BRCA1 (9%) and two within the BRCA2 gene (6%). These are three frameshift mutations (c.798_799del, c.2125_2126insA, c.5116_5119delAATA), one missense (c.116G > A) and one nonsense mutation (c.289G > T). The mutation c.5116_5119delAATA has a founder effect in North Africa. Moreover, one variant of unknown significance was identified in BRCA2 (c.4090A > G). Most BRCA mutations carriers (80%) had no family history of breast cancer. Conclusion Our data do not support the hypothesis that BRCA mutations alone explain the higher frequency of breast cancer in Moroccan young women. The young age (≤40 years) for breast cancer diagnosis seems to be strongly predictive of BRCA mutation status in Moroccan patients. These results will help in decision making with regard to genetic counseling and testing in the national scale.

Identification of germline mutations in men with early onset prostate cancer.

2015 ◽  
Vol 33 (15_suppl) ◽  
pp. 5045-5045
Author(s):  
Patrick Pilie ◽  
Anna M. Johnson ◽  
Kimberly A. Zuhlke ◽  
Linda A. Okoth ◽  
Scott Tomlins ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Early Onset ◽  
Germline Mutations

scholarly journals Application Areas of Traditional Molecular Genetic Methods and NGS in relation to Hereditary Urological Cancer Diagnosis

2020 ◽  
Vol 2020 ◽  
pp. 1-12
Author(s):  
Dmitry S. Mikhaylenko ◽  
Alexander S. Tanas ◽  
Dmitry V. Zaletaev ◽  
Marina V. Nemtsova
Keyword(s):  
Prostate Cancer ◽  
Bladder Cancer ◽  
Exome Sequencing ◽  
Hereditary Cancer ◽  
Early Onset ◽  
Molecular Genetic ◽  
Germline Mutations ◽  
Molecular Diagnostic ◽  
Hereditary Cancers ◽  
Cancer Prostate

Next generation sequencing (NGS) is widely used for diagnosing hereditary cancer syndromes. Often, exome sequencing and extended gene panel approaches are the only means that can be used to detect a pathogenic germline mutation in the case of multiple primary tumors, early onset, a family history of cancer, or a lack of specific signs associated with a particular syndrome. Certain germline mutations of oncogenes and tumor suppressor genes that determine specific clinical phenotypes may occur in mutation hot spots. Diagnosis of such cases, which involve hereditary cancer, does not require NGS, but may be made using PCR and Sanger sequencing. Diagnostic criteria and professional community guidelines developed for hereditary cancers of particular organs should be followed when ordering molecular diagnostic tests for a patient. This review focuses on urological oncology associated with germline mutations. Clinical signs and genetic diagnostic laboratory tests for hereditary forms of renal cell cancer, prostate cancer, and bladder cancer are summarized. While exome sequencing, or, conversely, traditional molecular genetic methods are the procedure of choice in some cases, in most situations, sequencing of multigene panels that are specifically aimed at detecting germline mutations in early onset renal cancer, prostate cancer, and bladder cancer seems to be the basic solution for molecular genetic diagnosis of hereditary cancers.

scholarly journals Rare germline mutations in African American men diagnosed with early‐onset prostate cancer

The Prostate ◽  
2018 ◽  
Vol 78 (5) ◽  
pp. 321-326 ◽  
Author(s):  
Jennifer L. Beebe‐Dimmer ◽  
Kimberly A. Zuhlke ◽  
Anna M. Johnson ◽  
Daniel Liesman ◽  
Kathleen A. Cooney
Keyword(s):  
Prostate Cancer ◽  
African American ◽  
Early Onset ◽  
African American Men ◽  
Germline Mutations

Germline Mutations in the BRCA2 Gene and Susceptibility to Hereditary Prostate Cancer

2007 ◽  
Vol 13 (3) ◽  
pp. 839-843 ◽  
Author(s):  
Ilir Agalliu ◽  
Erika M. Kwon ◽  
Daniel Zadory ◽  
Laura McIntosh ◽  
Joseph Thompson ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Brca2 Gene ◽  
Germline Mutations ◽  
Hereditary Prostate Cancer
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