scholarly journals Contralateral prophylactic mastectomy rate and predictive factors among patients with breast cancer who underwent multigene panel testing for hereditary cancer

2018 ◽  
Vol 7 (6) ◽  
pp. 2718-2726 ◽  
Author(s):  
Nisreen Elsayegh ◽  
Rachel D. Webster ◽  
Angelica M. Gutierrez Barrera ◽  
Heather Lin ◽  
Henry M. Kuerer ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Predictive Factors ◽  
Hereditary Cancer ◽  
Prophylactic Mastectomy ◽  
Contralateral Prophylactic Mastectomy ◽  
Mastectomy Rate ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

scholarly journals Multigene panel testing for breast cancer patients at high risk for hereditary cancer

2016 ◽  
Vol 27 ◽  
pp. vi465
Author(s):  
H.-C. Shin ◽  
T.-K. Yoo ◽  
E. Lee ◽  
H.-B. Kee ◽  
J. Han ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Cancer Patients ◽  
Hereditary Cancer ◽  
Breast Cancer Patients ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

scholarly journals Multigene Panel Testing Provides a New Perspective on Lynch Syndrome

2017 ◽  
Vol 35 (22) ◽  
pp. 2568-2575 ◽  
Author(s):  
Carin R. Espenschied ◽  
Holly LaDuca ◽  
Shuwei Li ◽  
Rachel McFarland ◽  
Chia-Ling Gau ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Endometrial Cancer ◽  
Lynch Syndrome ◽  
Population Based ◽  
Brca1 And Brca2 ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
New Perspective ◽  
Testing Criteria ◽  
Multigene Panel

Purpose Most existing literature describes Lynch syndrome (LS) as a hereditary syndrome leading to high risks of colorectal cancer (CRC) and endometrial cancer mainly as a result of mutations in MLH1 and MSH2. Most of these studies were performed on cohorts with disease suggestive of hereditary CRC and population-based CRC and endometrial cancer cohorts, possibly biasing results. We aimed to describe a large cohort of mismatch repair (MMR) mutation carriers ascertained through multigene panel testing, evaluate their phenotype, and compare the results with those of previous studies. Methods We retrospectively reviewed clinical histories of patients who had multigene panel testing, including the MMR and EPCAM genes, between March 2012 and June 2015 (N = 34,981) and performed a series of statistical comparisons. Results Overall, MSH6 mutations were most frequent, followed by PMS2, MSH2, MLH1, and EPCAM mutations, respectively. Of 528 patients who had MMR mutations, 63 (11.9%) had breast cancer only and 144 (27.3%) had CRC only. When comparing those with breast cancer only to those with CRC only, MSH6 and PMS2 mutations were more frequent than MLH1 and MSH2 mutations ( P = 2.3 × 10−5). Of the 528 patients, 22.2% met BRCA1 and BRCA2 ( BRCA1/2) testing criteria and not LS criteria, and 5.1% met neither BRCA1/2 nor LS testing criteria. MSH6 and PMS2 mutations were more frequent than MLH1 and MSH2 mutations among patients who met BRCA1/2 testing criteria but did not meet LS testing criteria ( P = 4.3 × 10−7). Conclusion These results provide a new perspective on LS and suggest that individuals with MSH6 and PMS2 mutations may present with a hereditary breast and ovarian cancer phenotype. These data also highlight the limitations of current testing criteria in identifying these patients, as well as the need for further investigation of cancer risks in patients with MMR mutations.

scholarly journals Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer

2020 ◽  
Vol 22 (5) ◽  
pp. 840-846 ◽  
Author(s):  
Dana Farengo Clark ◽  
Scott T. Michalski ◽  
Rashmi Tondon ◽  
Bita Nehoray ◽  
Jessica Ebrahimzadeh ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Loss Of Function ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

scholarly journals Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition

Cancers ◽  
2019 ◽  
Vol 11 (9) ◽  
pp. 1340 ◽  
Author(s):  
Gianluca Tedaldi ◽  
Francesca Pirini ◽  
Michela Tebaldi ◽  
Valentina Zampiga ◽  
Ilaria Cangini ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Gastric Cancer ◽  
Susceptibility Genes ◽  
Cancer Predisposition ◽  
Panel Testing ◽  
Pathogenic Variants ◽  
Cancer Susceptibility Genes ◽  
Number Of Patients ◽  
Multigene Panel Testing ◽  
Multigene Panel

The main gene involved in gastric cancer (GC) predisposition is CDH1, the pathogenic variants of which are associated with diffuse-type gastric cancer (DGC) and lobular breast cancer (LBC). CDH1 only explains a fraction (10–50%) of patients suspected of DGC/LBC genetic predisposition. To identify novel susceptibility genes, thus improving the management of families at risk, we performed a multigene panel testing on selected patients. We searched for germline pathogenic variants in 94 cancer-related genes in 96 GC or LBC Italian patients with early-onset and/or family history of GC. We found CDH1 pathogenic variants in 10.4% of patients. In 11.5% of cases, we identified loss-of-function variants in BRCA1, BRCA2, PALB2, and ATM breast/ovarian cancer susceptibility genes, as well as in MSH2, PMS2, BMPR1A, PRF1, and BLM genes. In 78.1% of patients, we did not find any variants with clear-cut clinical significance; however, 37.3% of these cases harbored rare missense variants predicted to be damaging by bioinformatics tools. Multigene panel testing decreased the number of patients that would have otherwise remained genetically unexplained. Besides CDH1, our results demonstrated that GC pathogenic variants are distributed across a number of susceptibility genes and reinforced the emerging link between gastric and breast cancer predisposition.

New insights into the performance of multigene panel testing: Two novel nonsense variants in BRIP1 and TP53 in a young woman with breast cancer

2018 ◽  
Vol 228-229 ◽  
pp. 1-4 ◽  
Author(s):  
Verónica Castillo-Guardiola ◽  
M Desamparados Sarabia-Meseguer ◽  
Miguel Marín-Vera ◽  
Ana Isabel Sánchez-Bermúdez ◽  
José Luis Alonso-Romero ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Young Woman ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

Multigene Panel Testing for Hereditary Cancer Risk

2016 ◽  
Vol 7 (4) ◽  
Author(s):  
Alyssa A. Grissom, MSN, APN, AGCNS, OCN ◽  
Patricia J. Friend, PhD, APN-CNS, AOCNS, AGN-BC
Keyword(s):  
Cancer Risk ◽  
Hereditary Cancer ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

Impact of pre-surgical germline multigene panel testing on choice of surgery for breast cancer.

2018 ◽  
Vol 36 (15_suppl) ◽  
pp. 1579-1579
Author(s):  
Elena Zarcaro ◽  
Leif W. Ellisen ◽  
Kristen M Shannon ◽  
Erica Blouch ◽  
Steven J. Isakoff
Keyword(s):  
Breast Cancer ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel
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