Results of NGS panel of hereditary breast and ovarian cancer in Lebanese women.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e13045-e13045
Author(s):  
Joseph Al Ajami ◽  
Nadine Jalkh ◽  
Ghadi Moubarak ◽  
Roland Eid ◽  
Fady Haddad ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Mutation Rate ◽  
Founder Effect ◽  
Familial Cancer ◽  
Brca1 Gene ◽  
Pathogenic Mutation ◽  
Genetic Alterations ◽  
Breast And Ovarian Cancer ◽  
Pathogenic Mutations

e13045 Background: Hereditary breast (BC) and ovarian cancer (OC) genetic alterations are considered the most prevalent among familial cancer. To date, four studies have exposed the mutations related to hereditary BC predisposition in the Lebanese population , with percentage of BRCA-related pathogenic mutations ranging between 5 % and 15 %. Methods: Between 2017 and 2019, 117 patients with high risk hereditary breast and ovarian cancer were referred to undergo the testing at the Unité de Génétique médicale (UGM) of Saint-Joseph University of Beirut, Lebanon. The sequencing was accomplished by using the 21-panel Next-Generation Sequencing (NGS) method for all of our patients, to which we also added the MLPA technique followed by the Sanger sequencing for validation whenever a genetic alteration was found. Results: From 117 Lebanese women with high-risk hereditary breast and ovarian cancer predisposition, 19 pathogenic mutations were identified in this study: 11 BRCA1, 1 BRCA2, 2 PALB2, 1 ATM, 1 CDH1, 1 MSH6, 1 RAD51C, and 1 BRIP1. Among those, 13 patients had BC, one had OC and five were healthy individuals. Five similar mutations were found within the BRCA1 gene, the p.C44F mutation, accounting for 45.4 %, thus suggesting a founder effect. Average age at diagnosis in the BC patients carrying a mutation was 41 years and 38.5% had a triple negative BC. Conclusions: The overall pathogenic mutation rate was equal to 16.2% while the BRCA deleterious mutation rate was 10.3% lower to those reported in the literature. The p.C44F mutation appeared five times suggesting a founder effect. [Table: see text]

scholarly journals A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient

2021 ◽  
Vol 22 (2) ◽  
pp. 889
Author(s):  
Ava Kwong ◽  
Cecilia Y. S. Ho ◽  
Vivian Y. Shin ◽  
Chun Hang Au ◽  
Tsun Leung Chan ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Brca1 Gene ◽  
Pathogenic Mutation ◽  
Compound Heterozygous ◽  
Strong Family History ◽  
Breast And Ovarian Cancer ◽  
Pathogenic Mutations ◽  
Increased Risk ◽  
History Of

The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.

scholarly journals High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area

2005 ◽  
Vol 7 (5) ◽  
Author(s):  
Petr Pohlreich ◽  
Michal Zikan ◽  
Jana Stribrna ◽  
Zdenek Kleibl ◽  
Marketa Janatova ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Patients ◽  
Brca1 Gene ◽  
Germline Mutations ◽  
Breast And Ovarian Cancer

Mutations in the BRCA1 gene in it alian breast and ovarian cancer patients

1997 ◽  
Vol 33 ◽  
pp. S9
Author(s):  
L. Ottini ◽  
C. D’Amico ◽  
C. Noviello ◽  
C. Pizzi ◽  
S. Lauro ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Patients ◽  
Brca1 Gene ◽  
Breast And Ovarian Cancer

Identification of Women at Risk for Hereditary Breast and Ovarian Cancer in A Sample of 1000 Slovenian Women: A Comparison of Guidelines

2020 ◽  
Author(s):  
Urška Kotnik ◽  
Borut Peterlin ◽  
Luca Lovrecic
Keyword(s):  
Ovarian Cancer ◽  
At Risk ◽  
Family History ◽  
High Risk ◽  
Breast And Ovarian Cancer ◽  
Nccn Guidelines ◽  
Family History Of Cancer ◽  
Slovenian Population ◽  
History Of ◽  
History Of Cancer

Abstract Background: An important number of breast and ovarian cancer cases is due to a strong genetic predisposition. The main tool for identifying individuals at risk is recognizing a suggestive family history of cancer. We present a prospective study on applying three selected clinical guidelines to a cohort of 1000 Slovenian women to determine the prevalence of at-risk women according to each of the guidelines and analyze the differences amongst the guidelines.Methods: Personal and family history of cancer was collected for 1000 Slovenian women. Guidelines by three organizations: National Comprehensive Cancer Network (NCCN), American College of Medical Genetics in cooperation with National Society of Genetic Counselors (ACMG/NSGC), and Society of Gynecologic Oncology (SGO) were applied to the cohort. The number of women identified, the characteristics of the high-risk population, and the agreement between the guidelines were explored. Results: NCCN guidelines identify 16.7 % of women, ACMG/NSGC guidelines identify 7.1 % of women, and SGO guidelines identify 7.0 % of women from the Slovenian population, while 6.2 % of women are identified by all three guidelines as having high-risk for hereditary breast and ovarian cancer.Conclusions: We identified 17.4 % of women from the Slovenian population as being at an increased risk for breast and ovarian cancer based on their personal and family history of cancer using all of the guidelines. There are important differences between the guidelines. NCCN guidelines are the most inclusive, identifying more than twice the amount of women as high-risk for hereditary breast and ovarian cancer as compared to the AGMG/NSCG and SGO guidelines in the Slovenian population.

Decision analysis of prophylactic mastectomy and oophorectomy in BRCA1-positive or BRCA2-positive patients.

1998 ◽  
Vol 16 (3) ◽  
pp. 979-985 ◽  
Author(s):  
V R Grann ◽  
K S Panageas ◽  
W Whang ◽  
K H Antman ◽  
A I Neugut
Keyword(s):  
Quality Of Life ◽  
Ovarian Cancer ◽  
High Risk ◽  
Surgical Procedures ◽  
Brca2 Gene ◽  
Cost Effective ◽  
Prophylactic Surgery ◽  
Breast And Ovarian Cancer ◽  
Prophylactic Surgical Procedures

PURPOSE Young Ashkenazi Jewish women or those from high-risk families who test positive for BRCA1 or BRCA2 mutant genes have a significant risk of developing breast or ovarian cancer by the age of 70 years. Many question whether they should have prophylactic surgical procedures, ie, bilateral mastectomy and/or oophorectomy. METHODS A Markov model was developed to determine the survival, quality of life, and cost-effectiveness of prophylactic surgical procedures. The probabilities of developing breast and ovarian cancer were based on literature review among women with the BRCA1 or BRCA2 gene and mortality rates were determined from Surveillance, Epidemiology, and End Results (SEER) data for 1973 to 1992. The costs for hospital and ambulatory care were estimated from Health Care Financing Administration (HCFA) payments in 1995, supplemented by managed care and fee-for-service data. Utility measures for quality-adjusted life-years (QALYs) were explicitly determined using the time-trade off method. Estimated risks for breast and ovarian cancer after prophylactic surgeries were obtained from the literature. RESULTS For a 30-year-old woman, according to her cancer risks, prophylactic oophorectomy improved survival by 0.4 to 2.6 years; mastectomy, by 2.8 to 3.4 years; and mastectomy and oophorectomy, by 3.3 to 6.0 years over surveillance. The QALYs saved were 0.5 for oophorectomy and 1.9 for the combined procedures in the high-risk model. Prophylactic surgeries were cost-effective compared with surveillance for years of life saved, but not for QALYs. CONCLUSION Among women who test positive for a BRCA1 or BRCA2 gene mutation, prophylactic surgery at a young age substantially improves survival, but unless genetic risk of cancer is high, provides no benefit for quality of life. Prophylactic surgery is cost-effective for years of life saved compared with other medical interventions that are deemed cost-effective.

A founder mutation of the BRCA1 gene in Western Sweden associated with a high incidence of breast and ovarian cancer

2001 ◽  
Vol 37 (15) ◽  
pp. 1904-1909 ◽  
Author(s):  
Z Einbeigi ◽  
A Bergman ◽  
L.-G Kindblom ◽  
T Martinsson ◽  
J.M Meis-Kindblom ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Founder Mutation ◽  
Brca1 Gene ◽  
Breast And Ovarian Cancer ◽  
High Incidence
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