scholarly journals Gene and pathway level analyses of iCOGS variants highlight novel signalling pathways underlying familial breast cancer susceptibility

2020 ◽  
Author(s):  
Christine Lonjou ◽  
Séverine Eon‐Marchais ◽  
Thérèse Truong ◽  
Marie‐Gabrielle Dondon ◽  
Mojgan Karimi ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Familial Breast Cancer ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Signalling Pathways ◽  
Pathway Level

Possible Risk Modification by Polymorphisms of Estrogen Metabolizing Genes in Familial Breast Cancer Susceptibility in an Indian Population

2009 ◽  
Vol 28 (3) ◽  
pp. 304-311 ◽  
Author(s):  
Volga S. Syamala ◽  
Vani Syamala ◽  
V. R. Sheeja ◽  
Ratheesan Kuttan ◽  
Rajan Balakrishnan ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Familial Breast Cancer ◽  
Indian Population ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Risk Modification

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.

scholarly journals Absence of High Penetrance Genes Mutations in Familial Breast Cancer in Mizo-Mongloid Population, Northeast India

2020 ◽  
Author(s):  
Doris Zodinpuii ◽  
Bawitlung Zothankima ◽  
Jeremy Lalrinsanga Pautu ◽  
Doris Lallawmzuali ◽  
Ashok Kumar Varma ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Familial Breast Cancer ◽  
Cancer Susceptibility ◽  
Mutation Screening ◽  
Susceptibility Gene ◽  
Gene Mutations ◽  
Brca1 Gene ◽  
Breast Cancer Susceptibility ◽  
Breast Cancer Susceptibility Gene ◽  
Cancer Susceptibility Genes

Abstract Background: Breast cancer is the most prevalent cancer and leading cause of death among women globally. The present study focuses on screening germline mutations of breast cancer susceptibility genes among the unexplored Mizo breast cancers of culturally and historically homogenous population, living a unique life style habits in terms of diet and tobacco usage. Methods Mutation screening was performed using Sanger sequencing in complete coding region of BRCA1 and frequently mutated exons of TP53, PTEN, CDH1, CHEK2 and XRCC2. Several online mutation prediction tools and databases were used to check the pathogenicity of the polymorphisms observed. Results: We observed eight polymorphisms in total, in which, one variants p.P1544P in BRCA1 gene was found to be novel. No variants were found to have a potential impact on protein since all the polymorphisms are of silent substitutions. No genetic alteration was observed in the studied exons of each of TP53, PTEN, CDH1, CHEK2 and XRCC2. Conclusion: To our knowledge, the present study focusing on familial breast cancer is the first time to analyzed the prevalence of breast cancer susceptibility gene mutations using direct sequencing in Mizo population. Even though, we do not find significant amino acid change, our results suggest the need for further evaluation of broader panel genes and a challenge to screen larger sample size to establish the contribution of these gene mutations in this population.

Evaluation of the BRCA1 interacting genes RAP80 and CCDC98 in familial breast cancer susceptibility

2008 ◽  
Vol 113 (2) ◽  
pp. 371-376 ◽  
Author(s):  
Ana Osorio ◽  
Alicia Barroso ◽  
Maria J. García ◽  
Beatriz Martínez-Delgado ◽  
Miguel Urioste ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Familial Breast Cancer ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility

scholarly journals Absence of evidence for a familial breast cancer susceptibility gene at chromosome 8p12-p22

Oncogene ◽  
2000 ◽  
Vol 19 (36) ◽  
pp. 4170-4173 ◽  
Author(s):  
Nazneen Rahman ◽  
M Dawn Teare ◽  
Sheila Seal ◽  
Helene Renard ◽  
Jon Mangion ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Familial Breast Cancer ◽  
Cancer Susceptibility ◽  
Susceptibility Gene ◽  
Breast Cancer Susceptibility ◽  
Breast Cancer Susceptibility Gene ◽  
Absence Of Evidence ◽  
Cancer Susceptibility Gene

scholarly journals Integrative analyses reveal signaling pathways underlying familial breast cancer susceptibility

2016 ◽  
Vol 12 (3) ◽  
pp. 860 ◽  
Author(s):  
Stephen R Piccolo ◽  
Laura M Hoffman ◽  
Thomas Conner ◽  
Gajendra Shrestha ◽  
Adam L Cohen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Signaling Pathways ◽  
Familial Breast Cancer ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Integrative Analyses
Sign in / Sign up

Export Citation Format

Share Document