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

Genetic counseling processes and outcomes among prostate cancer patients (ProGen).

2019 ◽  
Vol 37 (7_suppl) ◽  
pp. TPS343-TPS343 ◽  
Author(s):  
Donna Rachel Vatnick ◽  
Sandjida Aktar ◽  
Jill E. Stopfer ◽  
Lindsay Kipnis ◽  
Samantha K. Culver ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Dna Repair ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Cancer Risk ◽  
Mismatch Repair ◽  
Metastatic Prostate Cancer ◽  
Germline Mutations ◽  
Mismatch Repair Genes ◽  
Repair Genes

TPS343 Background: Prostate cancer (PC) is among the leading causes of cancer mortality in males. Recent studies found 8-12% of advanced PC cases may be hereditary. Germline mutations have been reported in BRCA1/2, other DNA repair genes including ATM, CHEK2, PALB2 and DNA mismatch repair genes. Genetic testing can inform treatment decisions including drug targeting, such as PARP inhibitors for men with BRCA mutations, and checkpoint inhibitors for those with pathogenic mutations in mismatch repair genes2. Discovering a pathogenic mutation associated with increased cancer risk also prompts dissemination of this information to family, where subsequent testing can lead to risk stratification and impactful opportunities for cancer screening and prevention. It is critical that men with high risk and potentially lethal prostate cancer routinely be offered genetic testing as a component of their cancer care. Genetic counseling services are limited, and more efficient services are needed. Methods: We are investigating video education prior to genetic testing compared with in-person pretest counseling with a licensed genetic counselor (GC). ProGen is an ongoing randomized trial evaluating two distinct models of cancer genetics service delivery in 450 PC cases over a two-year period. The study is conducted in collaboration with Ambry Genetics utilizing a 67-gene cancer panel. The primary aim is analysis of the proportion and type of germline mutations identified. Secondary aims include testing uptake by arm, evaluation of distress, knowledge, satisfaction with testing services, family communication, and impact on cancer care. Results are communicated by telephone with a GC. Inclusion criteria are: potentially lethal PC (metastatic, localized with Gleason score ≥8, rising/persistent PSA after local therapy), early diagnosis (≤ 55 years), prior malignancy, and/or family history potentially indicating a hereditary cancer risk. Enrollment is 74% completed at a single institution. (NCT03328091). 1 Pritchard CC, et al. Inherited DNA‐repair gene mutations in men with metastatic prostate cancer. NEJM. 2016;375:443 2 Mateo J, et al. DNA-Repair Defects and Olaparib in Metastatic Prostate Cancer. NEJM . 2015;373(18):1697-1708 Clinical trial information: NCT03328091.

scholarly journals Determining the frequency of de novo germline mutations in DNA mismatch repair genes

2011 ◽  
Vol 48 (8) ◽  
pp. 530-534 ◽  
Author(s):  
A. K. Win ◽  
M. A. Jenkins ◽  
D. D. Buchanan ◽  
M. Clendenning ◽  
J. P. Young ◽  
...  
Keyword(s):  
Mismatch Repair ◽  
De Novo ◽  
Dna Mismatch Repair ◽  
Germline Mutations ◽  
Mismatch Repair Genes ◽  
Dna Mismatch ◽  
Dna Mismatch Repair Genes ◽  
Repair Genes

scholarly journals Biallelic germline mutations of mismatch-repair genes

Cancer ◽  
2007 ◽  
Vol 109 (11) ◽  
pp. 2349-2356 ◽  
Author(s):  
Jan-Werner Poley ◽  
Anja Wagner ◽  
Monique M. C. P. Hoogmans ◽  
Fred H. Menko ◽  
Carli Tops ◽  
...  
Keyword(s):  
Mismatch Repair ◽  
Germline Mutations ◽  
Mismatch Repair Genes ◽  
Repair Genes

Mismatch Repair Genes and EPCAM germline mutations in patients with gastric or colorectal cancer with suspected of Lynch syndrome.

2018 ◽  
Vol 36 (15_suppl) ◽  
pp. e13623-e13623 ◽  
Author(s):  
Nora Manoukian Forones ◽  
Fernanda Tereza Lima ◽  
Renan Paulo Martin ◽  
Leonardo Martins ◽  
Patricia Valera Lima Teixeira ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Germline Mutations ◽  
Mismatch Repair Genes ◽  
Repair Genes

Role of DNA Mismatch Repair Genes in Colorectal Cancer

2021 ◽  
pp. 209-223
Author(s):  
Sonal Gupta ◽  
Manisha Mathur ◽  
Beiping Miao ◽  
Prashanth Suravajhala ◽  
Obul Reddy Bandapalli
Keyword(s):  
Colorectal Cancer ◽  
Mismatch Repair ◽  
Dna Mismatch Repair ◽  
Mismatch Repair Genes ◽  
Dna Mismatch ◽  
Dna Mismatch Repair Genes ◽  
Repair Genes
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