BRCA1 genetic testing in 106 breast and ovarian cancer families from southern Italy (Sicily): a mutation analyses

2007 ◽  
Vol 105 (3) ◽  
pp. 267-276 ◽  
Author(s):  
Antonio Russo ◽  
Valentina Calò ◽  
Valentina Agnese ◽  
Loredana Bruno ◽  
Simona Corsale ◽  
...  
Cancers ◽  
2021 ◽  
Vol 13 (18) ◽  
pp. 4714
Author(s):  
Margherita Patruno ◽  
Simona De Summa ◽  
Nicoletta Resta ◽  
Mariapia Caputo ◽  
Silvia Costanzo ◽  
...  

BRCA1/2-associated hereditary breast and ovarian cancer is the most common form of hereditary breast and ovarian cancer and occurs in all ethnicities and racial populations. Different BRCA1/BRCA2 pathogenic variants (PVs) have been reported with a wide variety among populations. In this study, we retrospectively analyzed prevalence and geographic distribution of pathogenic germline BRCA1/2 variants in families from Apulia in southern Italy and evaluated the genotype–phenotype correlations. Data were collected from Oncogenetic Services present in Apulian hospitals and a shared database was built containing Apulian native probands (n = 2026) that had undergone genetic testing from 2004 to 2019. PVs were detected in 499 of 2026 (24.6%) probands and 68.5% of them (342 of 499) were in the BRCA1 gene. We found 65 different PVs in BRCA1 and 46 in BRCA2. There were 10 most recurrent PVs and their geographical distribution appears to be significantly specific for each province. We have assumed that these PVs are related to the historical and geopolitical changes that occurred in Apulia over time and/or to a “founder effect”. Broader knowledge of BRCA1/2 prevalence and recurring PVs in specific geographic areas could help establish more flexible genetic testing strategies that may enhance our ability to detect high-risk subjects.


2019 ◽  
Vol 25 (4) ◽  
pp. 575-577
Author(s):  
Marie E. Wood ◽  
Judy E. Garber ◽  
Claudine Isaacs ◽  
Shahla Masood ◽  
Isabelle Bedrosian ◽  
...  

2001 ◽  
Vol 3 (2) ◽  
pp. 120-125 ◽  
Author(s):  
Julie O Culver ◽  
Judy L Hull ◽  
Deborah F B Dunne ◽  
Wylie Burke

1999 ◽  
Vol 15 (1-3) ◽  
pp. 152-153 ◽  
Author(s):  
M. Decruyenaere ◽  
G. Evers-Kiebooms ◽  
E. Claes ◽  
L. Denayer ◽  
M. Welkenhuysen ◽  
...  

Cancers ◽  
2020 ◽  
Vol 12 (2) ◽  
pp. 338 ◽  
Author(s):  
Matthew Richardson ◽  
Hae Jung Min ◽  
Quan Hong ◽  
Katie Compton ◽  
Sze Wing Mung ◽  
...  

New streamlined models for genetic counseling and genetic testing have recently been developed in response to increasing demand for cancer genetic services. To improve access and decrease wait times, we implemented an oncology clinic-based genetic testing model for breast and ovarian cancer patients in a publicly funded population-based health care setting in British Columbia, Canada. This observational study evaluated the oncology clinic-based model as compared to a traditional one-on-one approach with a genetic counsellor using a multi-gene panel testing approach. The primary objectives were to evaluate wait times and patient reported outcome measures between the oncology clinic-based and traditional genetic counselling models. Secondary objectives were to describe oncologist and genetic counsellor acceptability and experience. Wait times from referral to return of genetic testing results were assessed for 400 patients with breast and/or ovarian cancer undergoing genetic testing for hereditary breast and ovarian cancer from June 2015 to August 2017. Patient wait times from referral to return of results were significantly shorter with the oncology clinic-based model as compared to the traditional model (403 vs. 191 days; p < 0.001). A subset of 148 patients (traditional n = 99; oncology clinic-based n = 49) completed study surveys to assess uncertainty, distress, and patient experience. Responses were similar between both models. Healthcare providers survey responses indicated they believed the oncology clinic-based model was acceptable and a positive experience. Oncology clinic-based genetic testing using a multi-gene panel approach and post-test counselling with a genetic counsellor significantly reduced wait times and is acceptable for patients and health care providers.


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