One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations

2004 ◽  
Vol 40 (3) ◽  
pp. 422-428 ◽  
Author(s):  
S. Malander ◽  
M. Ridderheim ◽  
A. Måsbäck ◽  
N. Loman ◽  
U. Kristoffersson ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Patients ◽  
Germ Line ◽  
Brca2 Mutations

Fas gene promoter –670 polymorphism in gynecological cancer

2006 ◽  
Vol 16 (Suppl 1) ◽  
pp. 179-182 ◽  
Author(s):  
M. Ueda ◽  
Y. Terai ◽  
K. Kanda ◽  
M. Kanemura ◽  
M. Takehara ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cervical Cancer ◽  
Cancer Patients ◽  
Germ Line ◽  
Gynecological Cancer ◽  
Gene Promoter ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Significant Difference ◽  
Germ Line Polymorphism

Single-nucleotide polymorphism at −670 of Fas gene promoter (A/G) was examined in a total of 354 blood samples from normal healthy women and gynecological cancer patients. They consisted of 95 normal, 83 cervical, 108 endometrial, and 68 ovarian cancer cases. Eighty-three patients with cervical cancer had statistically higher frequency of GG genotype and G allele than 95 controls (P= 0.0353 and 0.0278, respectively). There was no significant difference in the genotype or allele prevalence between control subjects and endometrial or ovarian cancer patients. The Fas −670 GG genotype was associated with an increased risk for the development of cervical cancer (OR = 2.56, 95% CI = 1.08–6.10) compared with the AA genotype. The G allele also increased the risk of cervical cancer (OR = 1.60, 95% CI = 1.05–2.43) compared with the A allele. Germ-line polymorphism of Fas gene promoter −670 may be associated with the risk of cervical cancer in a Japanese population.

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.

scholarly journals Risk Estimation as a Decision-Making Tool for Genetic Analysis of the Breast Cancer Susceptibility Genes

1999 ◽  
Vol 15 (1-3) ◽  
pp. 53-65 ◽  
Author(s):  
Jenny Chang-Claude ◽  
Heiko Becher ◽  
Maria Caligo ◽  
Diana Eccles ◽  
Gareth Evans ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Familial Breast Cancer ◽  
Genetic Model ◽  
Germ Line ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Cancer Gene ◽  
Brca2 Mutations ◽  
Breast Cancer Gene

For genetic counselling of a woman on familial breast cancer, an accurate evaluation of the probability that she carries a germ-line mutation is needed to assist in making decisions about genetic-testing.We used data from eight collaborating centres comprising 618 families (346 breast cancer only, 239 breast or ovarian cancer) recruited as research families or counselled for familial breast cancer, representing a broad range of family structures. Screening was performed in affected women from 618 families for germ-line mutations in BRCA1 and in 176 families for BRCA2 mutations, using different methods including SSCP, CSGE, DGGE, FAMA and PTT analysis followed by direct sequencing. Germ-line BRCA1 mutations were detected in 132 families and BRCA2 mutations in 16 families. The probability of being a carrier of a dominant breast cancer gene was calculated for the screened individual under the established genetic model for breast cancer susceptibility, first, with parameters for age-specific penetrances for breast cancer only [7] and, second, with age-specific penetrances for ovarian cancer in addition [20]. Our results indicate that the estimated probability of carrying a dominant breast cancer gene gives a direct measure of the likelihood of detecting mutations in BRCA1 and BRCA2. For breast/ovarian cancer families, the genetic model according to Narod et al. [20] is preferable for calculating the proband's genetic risk, and gives detection rates that indicate a 50% sensitivity of the gene test. Due to the incomplete BRCA2 screening of the families, we cannot yet draw any conclusions with respect to the breast cancer only families.

Models for predicting BRCA1 and BRCA2 mutations in Han Chinese familial breast and/or ovarian cancer patients

2008 ◽  
Vol 113 (3) ◽  
pp. 467-477 ◽  
Author(s):  
Nan-Yan Rao ◽  
Zhen Hu ◽  
Wen-Feng Li ◽  
Juan Huang ◽  
Zhong-Liang Ma ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Patients ◽  
Han Chinese ◽  
Brca1 And Brca2 ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations

BRCA1/BRCA2 mutations behavior and clinical evaluation in Mexican ovarian cancer patients

2018 ◽  
Vol 149 ◽  
pp. 244-245
Author(s):  
D. Gallardo-Rincón ◽  
R.M. Álvarez-Gómez ◽  
G. Alamilla-García ◽  
J.A. Bahena-González ◽  
E. Montes-Servín ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Patients ◽  
Clinical Evaluation ◽  
Brca2 Mutations ◽  
Brca1 Brca2

CAG repeat length in exon 1 of the androgen receptor gene is related to age of diagnosis but not germ line BRCA1 mutation status in ovarian cancer

2006 ◽  
Vol 16 (Suppl 1) ◽  
pp. 190-194
Author(s):  
S. C. Kim ◽  
W. Ju ◽  
V. Mahavni ◽  
J. P. Geisler ◽  
R. E. Buller
Keyword(s):  
Ovarian Cancer ◽  
Cancer Patients ◽  
Germ Line ◽  
Brca1 Mutation ◽  
Repeat Length ◽  
Cag Repeat ◽  
Carrier Status ◽  
Mutation Status ◽  
Exon 1 ◽  
Age Of Diagnosis

It has been postulated that androgens, through their interaction with androgen receptors (AR), may play an important role in the development of ovarian cancer. Exon 1 of the AR gene contains three highly polymorphic trinucleotide repeats. The length of the (CAG)n repeat segment 1 is inversely correlated with the transactivation function of the AR. Recent studies have shown that BRCA1 may function as an AR coregulator or coactivator and play positive roles in androgen-induced cell death in cancer cells as well as other androgen/AR target organs. We hypothesize that the AR gene, involved in endocrine signaling, may modify BRCA1-associated ovarian cancer risk. To test this hypothesis, potential associations between the (CAG)n repeat length, germ line BRCA1 mutation status, and age of diagnosis for ovarian cancer were investigated. One hundred and eleven ovarian cancer patients (27 hereditary and 84 sporadic) were included. All the cases were allelotyped for CAG repeat length and genotyped for mutations in the BRCA1 gene by direct sequencing. No association between CAG repeat length and BRCA1 mutation status was identified. Furthermore, there were no differences between hereditary and sporadic ovarian cancer in the number of (CAG)n repeats of the short allele (P= 0.336), long allele (P= 0.875), or average allele length (P= 0.550). However, ovarian cancer patients from both groups (hereditary and sporadic) who carried any AR allele of (CAG)n≤ 22 repeats were diagnosed on average 8.17 years (95% confidence interval [1.3, 15.0]) earlier than the patients whose shortest AR allele (CAG)n was >22 (P= 0.020). In conclusion, it is suggested that the CAG repeat length in AR exon 1 may affect the age of diagnosis of ovarian cancer but does so independent of germ line BRCA1 carrier status.

Frequency and spectrum of founder and non-founder BRCA1 and BRCA2 mutations in a large series of Russian breast cancer and ovarian cancer patients

2020 ◽  
Vol 184 (1) ◽  
pp. 229-235
Author(s):  
Anna P. Sokolenko ◽  
Tatiana N. Sokolova ◽  
Valeria I. Ni ◽  
Elena V. Preobrazhenskaya ◽  
Aglaya G. Iyevleva ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Cancer Patients ◽  
Large Series ◽  
Brca1 And Brca2 ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations

Clinical and pathologic characteristics of ovarian cancer patients with BRCA1 and BRCA2 mutations in Turkish population.

2014 ◽  
Vol 32 (15_suppl) ◽  
pp. e16526-e16526
Author(s):  
Pinar Saip ◽  
Demet Akdeniz ◽  
Bugra Tuncer ◽  
Seda Kilic ◽  
Ozge Sukruoglu ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Patients ◽  
Turkish Population ◽  
Brca1 And Brca2 ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations
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