Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast‐ovarian cancer families

No abstract is available for this paper.

• Publication year

  2004

• Venue

  Human Mutation

• Publication date

  2004-02-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/HUMU.9213PMID 14722926
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• BRCA1 germline mutations in Indian familial breast cancer

  2003cited by this paper
• Germline BRCA1 Mutation Analysis in Indian Breast/Ovarian Cancer Families

  2002cited by this paper
• BRCA1 and BRCA2 in Indian breast cancer patients

  2002cited by this paper
• Variation in cancer risks, by mutation position, in BRCA2 mutation carriers.

  2001cited by this paper
• Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases

  2000cited by this paper
• BRCA1 mutations in African Americans

  1999cited by this paper
• Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer.

  1999cited by this paper
• Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study.

  1998cited by this paper
• Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes?

  1997cited by this paper
• Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families

  1997influential reference
• Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis.

  1997cited by this paper
• BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing.

  1997cited by this paper
• Population genetics of BRCA1 and BRCA2.

  1997cited by this paper
• Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population.

  1997cited by this paper
• Two distinct origins of a common BRCA1 mutation in breast-ovarian cancer families: a genetic study of 15 185delAG-mutation kindreds.

  1996cited by this paper
• Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study.

  1996influential reference
• The genetic attributable risk of breast and ovarian cancer

  1996cited by this paper
• Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2

  1996influential reference
• Transcriptional activation by BRCA1

  1996cited by this paper
• BRCA1 mutations in a population-based sample of young women with breast cancer.

  1996cited by this paper
• A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening.

  1995cited by this paper
• The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals

  1995influential reference
• Identification of the breast cancer susceptibility gene BRCA2

  1995cited by this paper
• Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families.

  1995influential reference
• Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium.

  1995cited by this paper
• Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families

  1994cited by this paper
• A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.

  1994cited by this paper
• Genetic analysis of breast cancer in the cancer and steroid hormone study.

  1991cited by this paper
• Linkage of early-onset familial breast cancer to chromosome 17q21.

  1990cited by this paper
• The contribution of inherited predisposition to cancer incidence.

  1990cited by this paper

• Genetic screening of FFPE breast cancer biopsies for the BRCA1-185delAG mutation in Trinidad and Tobago

  2025cites this paper
• Estimating drivers of breast tissue transitions from normal to tumor state

  2025cites this paper
• Mutation Analysis of the BRCA1 and BRCA2 Genes in Early-Onset, Familial, and Sporadic Breast Cancer Among the South Indian Population

  2025cites this paper
• Spectrum of BRCA1/2 Pathogenic Variants in Southern and Western Asia-A Systematic Review.

  2025cites this paper
• Prevalence of germline mutations in women with breast and/or ovarian cancer in a tertiary care center in Pune, India

  2023cites this paper
• Analysis of pathogenic variants in BRCA1 and BRCA2 genes using next-generation sequencing in women with triple negative breast cancer from South India

  2021cites this paper
• Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: A descriptive study.

  2021cites this paper
• An Overview of Genes Associated with Hereditary Breast and Ovarian Cancer in India

  2021cites this paper
• Prognosis of breast cancer patients and survival rate related with Ki-67 proliferation index: multicenter retrospective study

  2021cites this paper
• Clinicopathological characteristics of BRCA-associated breast cancer in Asian patients

  2020cites this paper
• Spectrum of germline BRCA mutations in hereditary breast and ovarian cancer syndrome in Indian population: A central reference laboratory experience

  2020cites this paper
• Upfront Maintenance Poly(Adenosine Diphosphate Ribose) Polymerase Inhibitors in Ovarian Cancer: A Ray of Hope or Just a Mirage!

  2020cites this paper
• Social Inequities in Cancer

  2019cites this paper
• Outcomes of Breast Cancer Management from an Urban Specialist Breast Center in South India

  2019cites this paper
• Germline BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance associated with breast/ovarian cancer: a report from North India

  2018cites this paper
• Mutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients

  2018cites this paper
• Delays in Breast Cancer Detection and Treatment in Developing Countries

  2018cites this paper
• BRCA1 mutation spectrum, functions, and therapeutic strategies: The story so far.

  2018cites this paper
• Practical consensus recommendation on when to do BRCA testing

  2018cites this paper
• Global Inequities in Precision Medicine and Molecular Cancer Research

  2018cites this paper
• Mutation analysis of BRCA 1 / 2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients

  2018cites this paper
• BRCA 1 and 2 mutations in carcinoma breast: An Indian study

  2018cites this paper
• Ethnicity and Breast Cancer Risk: An Indian Perspective

  2017cites this paper
• Epidemiology of breast cancer in Indian women

  2017cites this paper
• Next-Generation Sequencing Reveals a Nonsense Mutation (p.Arg364Ter) in MRE11A Gene in an Indian Patient with Familial Breast Cancer

  2017cites this paper
• Strategies to Target Pancreatic Cancer

  2016cites this paper
• Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India

  2016cites this paper
• BRCA1 Gene's EXON 11 and Breast Carcinoma: A Mutational Hot Spot for Familial Patients and Prone to Metastases in Northern India

  2015cites this paper
• Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries

  2015cites this paper
• BRCA1, BRCA2, HER2 and RAD51 gene polymorphisms in breast cancer patients of Bangladesh

  2015cites this paper
• An Integrated in Silico Approach to Analyze the Involvement of Single Amino Acid Polymorphisms in FANCD1/BRCA2-PALB2 and FANCD1/BRCA2-RAD51 Complex

  2014cites this paper
• Distribution of BRCA1 and BRCA2 Mutations in Asian Patients with Breast Cancer

  2013cites this paper
• A Comprehensive Focus on Global Spectrum of BRCA1 and BRCA2 Mutations in Breast Cancer

  2013cites this paper
• Screening of 185 DelAG , 1014 DelGT and 3889 DelAG BRCA 1 Mutations in Breast Cancer Patients from North-East India

  2013cites this paper
• BRCA1/BRCA2 gene mutations/SNPs and BRCA1 haplotypes in early-onset breast cancer patients of Indian ethnicity

  2012cites this paper
• Screening of 185DelAG, 1014DelGT and 3889DelAG BRCA1 mutations in breast cancer patients from North-East India.

  2012cites this paper
• Overexpression of Karyopherin 2 in Human Ovarian Malignant Germ Cell Tumor Correlates with Poor Prognosis

  2012cites this paper
• A novel polymorphism in BRCA2 exon 8 and breast cancer risk in South India.

  2011cites this paper
• SCREENING FOR 185 delAG BRCA 1 MUTATION IN BREAST AND / OR OVARIAN CANCER PATIENTS Summary : Breast cancer

  2011cites this paper
• Novel Sequence Variants and a High Frequency of Recurrent Polymorphisms in BRCA1 Gene in Breast Cancer Women of North Coastal Andhra Pradesh

  2011cites this paper
• BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients

  2011cites this paper
• Molecular Studies on common cancers of South India

  2011cites this paper
• BRCA1 and BRCA1 Genes and Inherited Breast and/or Ovarian Cancer: Benefits of Genetic Testing

  2010cites this paper
• Breast Cancer Care in Developing Countries

  2009cites this paper
• Role of BRCA1, HSD17B1 and HSD17B2 methylation in breast cancer tissue

  2009cites this paper
• Pathophysiology of Chronic Pancreatitis

  2009cites this paper
• Clinical Aspects of Chronic Pancreatitis: Features and Prognosis

  2009cites this paper
• BRCA1 and BRCA2 germline mutation analysis among Indian women from south India: identification of four novel mutations and high-frequency occurrence of 185delAG mutation

  2009cites this paper
• Molecular genetics analysis of hereditary breast and ovarian cancer patients in India

  2009cites this paper
• BRCA 1 and BRCA 2 germline mutation analysis among Indian women from south India : identifi cation of four novel mutations and high-frequency occurrence of 185 delAG mutation

  2009cites this paper
• Genomic profiling of breast cancer

  2009cites this paper
• Hereditary breast/ovarian cancer: clinicopathological characteristics and survival of BRCA2 positive and negative cases.

  2008cites this paper
• Breast Cancer Care in India: The Current Scenario and the Challenges for the Future

  2008cites this paper
• Genomic Instability-Indicated Mechanisms of Early Carcinogenesis Following Hepatocarcinogen Treatment

  2008cites this paper
• Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1 gene in Sri Lankan breast cancer patients and at risk individuals

  2008cites this paper
• BRCA1 and TP53 mutation spectrum of breast carcinoma in an ethnic population of Kashmir, an emerging high-risk area.

  2007cites this paper
• Implication of BRCA2 -26G>A 5' untranslated region polymorphism in susceptibility to sporadic breast cancer and its modulation by p53 codon 72 Arg>Pro polymorphism

  2007influential citation
• Novel germline mutations in BRCA2 gene among 96 hereditary breast and breast–ovarian cancer families from Kerala, South India

  2007cites this paper
• BRCA1 and BRCA2 Mutations in an Asian Clinic-based Population Detected Using a Comprehensive Strategy

  2007cites this paper
• Molecular genetic analysis of the BRCA2 tumor suppressor gene region in cutaneous squamous cell carcinomas

  2007cites this paper
• Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients

  2006influential citation
• Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India

  2006cites this paper
• Ashkenazi Jews and breast cancer: the consequences of linking ethnic identity to genetic disease.

  2006cites this paper
• A novel BRCA1 mutation in an Indian family with hereditary breast/ovarian cancer

  2006cites this paper
• Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants

  2005cites this paper
• Familial breast cancer: Genetics and counseling Familial breast cancer: Genetics and counseling Familial breast cancer: Genetics and counseling Familial breast cancer: Genetics and counseling Familial breast cancer: Genetics and counseling

  2005cites this paper
• Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India

  2004cites this paper
• History of the science of mutagenesis from a personal perspective

  2004cites this paper
• BRCA 1 and BRCA 2 germline mutations in 85 Iranian breast cancer patients

  year unknowncites this paper