Genetic Testing for Breast Cancer Susceptibility: Frequency of BRCA1 and BRCA2 Mutations

1997 ◽  
Vol 1 (2) ◽  
pp. 85-90 ◽  
Author(s):  
ARUPA GANGULY ◽  
KEVIN LEAHY ◽  
ANDREW M. MARSHALL ◽  
ROHINI DHULIPALA ◽  
LYNN GODMILOW ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Brca1 And Brca2 ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations

scholarly journals 027.Mapping novel breast cancer susceptibility genes by linkage analysis of Australian multiple case kindreds

2004 ◽  
Vol 16 (9) ◽  
pp. 27
Author(s):  
Graham J. Mann ◽  
Gulietta M. Pupo ◽  
Beth Newman ◽  
Deon J. Venter ◽  
John L. Hopper ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Age Of Onset ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Susceptibility Loci ◽  
Brca1 And Brca2 ◽  
Cancer Susceptibility Genes ◽  
Major Breast ◽  
Breast Cancer Linkage Consortium ◽  
Brca1 And Brca2 Mutations

We have been using the resources of the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) and of the Australian Breast Cancer Family Study (ABCFS) to identify kindreds suitable for mapping high penetrance breast cancer susceptibility loci other than BRCA1 and BRCA2. A 10 cM genomewide search was carried out in 40 families in which BRCA1 and BRCA2 mutations had been excluded with high probability. The highest LOD score under heterogeneity (HLOD) was 2.16 (non-parametric LOD 1.83, P = 0.04) at the 11p telomere; several other regions with HLODs = 1.5–2.0 also merited investigation using fine mapping but have so far neither been confirmed or rejected by these analyses. Subsets based on age of onset and presence of other cancers correlated to some extent with particular linkage peaks and several regions (notably 2q and 13q) corresponded to areas of suggestive linkage reported recently in more limited studies of other cohorts. A large collaborative analysis of these data together with those from similar studies undertaken by members of the international Breast Cancer Linkage Consortium (BCLC) is under way. It is therefore likely that further major breast cancer susceptibility loci will be localised in the near future. The complementarity of these studies with genetic association, candidate gene and tumour-based approaches will be discussed.

BRCAPRO Validation, Sensitivity of Genetic Testing of BRCA1/BRCA2, and Prevalence of Other Breast Cancer Susceptibility Genes

2002 ◽  
Vol 20 (11) ◽  
pp. 2701-2712 ◽  
Author(s):  
Donald A. Berry ◽  
Edwin S. Iversen ◽  
Daniel F. Gudbjartsson ◽  
Elaine H. Hiller ◽  
Judy E. Garber ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Testing ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Susceptibility Genes ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Cancer Susceptibility Genes ◽  
Breast Cancer Susceptibility Genes

PURPOSE: To compare genetic test results for deleterious mutations of BRCA1 and BRCA2 with estimated probabilities of carrying such mutations; to assess sensitivity of genetic testing; and to assess the relevance of other susceptibility genes in familial breast and ovarian cancer. PATIENTS AND METHODS: Data analyzed were from six high-risk genetic counseling clinics and concern individuals from families for which at least one member was tested for mutations at BRCA1 and BRCA2. Predictions of genetic predisposition to breast and ovarian cancer for 301 individuals were made using BRCAPRO, a statistical model and software using Mendelian genetics and Bayesian updating. Model predictions were compared with the results of genetic testing. RESULTS: Among the test individuals, 126 were Ashkenazi Jewish, three were male subjects, 243 had breast cancer, 49 had ovarian cancer, 34 were unaffected, and 139 tested positive for BRCA1 mutations and 29 for BRCA2 mutations. BRCAPRO performed well: for the 150 probands with the smallest BRCAPRO carrier probabilities (average, 29.0%), the proportion testing positive was 32.7%; for the 151 probands with the largest carrier probabilities (average, 95.2%), 78.8% tested positive. Genetic testing sensitivity was estimated to be at least 85%, with false-negatives including mutations of susceptibility genes heretofore unknown. CONCLUSION: BRCAPRO is an accurate counseling tool for determining the probability of carrying mutations of BRCA1 and BRCA2. Genetic testing for BRCA1 and BRCA2 is highly sensitive, missing an estimated 15% of mutations. In the populations studied, breast cancer susceptibility genes other than BRCA1 and BRCA2 either do not exist, are rare, or are associated with low disease penetrance.

scholarly journals Inherited Mutations in 17 Breast Cancer Susceptibility Genes Among a Large Triple-Negative Breast Cancer Cohort Unselected for Family History of Breast Cancer

2015 ◽  
Vol 33 (4) ◽  
pp. 304-311 ◽  
Author(s):  
Fergus J. Couch ◽  
Steven N. Hart ◽  
Priyanka Sharma ◽  
Amanda Ewart Toland ◽  
Xianshu Wang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Family History ◽  
Triple Negative ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Deleterious Mutations ◽  
Brca1 And Brca2 ◽  
Predisposition Genes ◽  
History Of

Purpose Recent advances in DNA sequencing have led to the development of breast cancer susceptibility gene panels for germline genetic testing of patients. We assessed the frequency of mutations in 17 predisposition genes, including BRCA1 and BRCA2, in a large cohort of patients with triple-negative breast cancer (TNBC) unselected for family history of breast or ovarian cancer to determine the utility of germline genetic testing for those with TNBC. Patients and Methods Patients with TNBC (N = 1,824) unselected for family history of breast or ovarian cancer were recruited through 12 studies, and germline DNA was sequenced to identify mutations. Results Deleterious mutations were identified in 14.6% of all patients. Of these, 11.2% had mutations in the BRCA1 (8.5%) and BRCA2 (2.7%) genes. Deleterious mutations in 15 other predisposition genes were detected in 3.7% of patients, with the majority observed in genes involved in homologous recombination, including PALB2 (1.2%) and BARD1, RAD51D, RAD51C, and BRIP1 (0.3% to 0.5%). Patients with TNBC with mutations were diagnosed at an earlier age (P < .001) and had higher-grade tumors (P = .01) than those without mutations. Conclusion Deleterious mutations in predisposition genes are present at high frequency in patients with TNBC unselected for family history of cancer. Mutation prevalence estimates suggest that patients with TNBC, regardless of age at diagnosis or family history of cancer, should be considered for germline genetic testing of BRCA1 and BRCA2. Although mutations in other predisposition genes are observed among patients with TNBC, better cancer risk estimates are needed before these mutations are used for clinical risk assessment in relatives.

scholarly journals A MOLECULAR-BASED APPROACH TO INVESTIGATE BREAST CANCER 1 AND BREAST CANCER 2 STATUS IN OVARIAN CANCER AMONG IRAQI WOMEN

2018 ◽  
Vol 11 (7) ◽  
pp. 199
Author(s):  
Muhannad Shweash ◽  
Saddam Jumaa Naseer ◽  
Maisam Khider Al-anii ◽  
Thulfiqar Fawwaz Mutar
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Cancer Patients ◽  
Gene Mutations ◽  
Healthy Controls ◽  
Brca1 And Brca2 ◽  
First Degree Relatives ◽  
Brca Gene ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations

Objective: Cancer ovary is one of the fatal gynecologic malignancies worldwide. Since breast cancer (BRCA) genes are considered tumor suppressor genes and play important roles in cancer by repairing of chromosomal damage with the error repair of DNA breaks. Therefore, breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) gene mutations strongly enhance the development of ovarian cancer risk among women. Here, we report that both genes are an essential mediator of progress ovarian cancer, to determine the influence of BRCA1 and BRCA2 mutations in the improvement of ovarian cancer.Methods: A total of 25 subjects were chosen for the genetic studies, and three groups were recruited: fifteen ovarian cancer patients group, five healthy controls, and five first-degree relatives to a known case of ovarian cancer patients.Results: A genetic analysis revealed that a strong correlation exists between both gene mutations’ status in ovarian cancer, and BRCA gene mutations (185delAG, 5382insC, and 4153delA in BRCA1 and 6174delT in BRCA2) remained to establish to have a relatively high frequency among people in this study among ovarian cancer patients. Furthermore, seven patients with ovarian cancer carried all of the four investigated mutations, and five had three mutations.Conclusion: Otherwise, BRCA gene frequency showed low prevalence among first-degree relatives, and to a lesser extent among healthy controls, with only a few had all of the mutations combined. These data demonstrate for the first time a molecular link between BRCA1 and BRCA2 mutations in ovarian cancer progression in Iraq.

Clinical implications of genetic testing for BRCA1 and BRCA2 mutations in Austria

2013 ◽  
Vol 85 (1) ◽  
pp. 72-75 ◽  
Author(s):  
CF Singer ◽  
D Muhr ◽  
C Rappaport ◽  
M-K Tea ◽  
D Gschwantler-Kaulich ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Implications ◽  
Brca1 And Brca2 ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations

Abstract 2512: BRCA1 and BRCA2 mutations and its clinical relevance among egyptian breast cancer women

2021 ◽  
Author(s):  
Samah A. Loutfy ◽  
Nasra F. Abdel Fattah ◽  
Ahmed B. Barakat ◽  
Omar R. Alfarouk ◽  
Tarek M. Hashem ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Clinical Relevance ◽  
Brca1 And Brca2 ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations

scholarly journals Recurrent BRCA1 and BRCA2 Mutations in Mexican Women with Breast Cancer

2014 ◽  
Vol 24 (3) ◽  
pp. 498-505 ◽  
Author(s):  
Gabriela Torres-Mejía ◽  
Robert Royer ◽  
Marcia Llacuachaqui ◽  
Mohammad R. Akbari ◽  
Anna R. Giuliano ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Mexican Women ◽  
Brca1 And Brca2 ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations

Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Cuba

2008 ◽  
Vol 7 (3) ◽  
pp. 275-279 ◽  
Author(s):  
Rolando Comacho Rodriguez ◽  
Antonio Alejandro Esperon ◽  
Ramon Ropero ◽  
Maria Caridad Rubio ◽  
Ronald Rodriguez ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Breast Cancer Patients ◽  
Brca1 And Brca2 ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations
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