Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S819S
Back to variants list

BRCA1

NM_007294.4:p.S819S

Associated Papers

Frequency of Founder Mutations in BRCA1 and BRCA2 Genes in Hereditary Breast Cancers in Poland vs. Other Countries.

Kulikowska B et al.

Cancers, 2026

Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.

Gracia B et al.

Cell Reports, 2024

38368609 (PubMed )
Supplement: NIHMS1970903-supplement-6.xlsx › Table_S5

A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Karami F et al.

Biomed Research International, 2013

BRCA1/BRCA2 gene mutations/SNPs and BRCA1 haplotypes in early-onset breast cancer patients of Indian ethnicity.

Juwle A et al.

Medical Oncology (northwood, London, England), 2012

Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.

Finkelman BS et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2012

Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.

Janavičius R

The Epma Journal, 2010

Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada.

Risch HA et al.

Journal of the National Cancer Institute, 2006

Structural factors determining DNA length limitations in conformation-sensitive mutation detection methods.

Kozlowski P et al.

Electrophoresis, 2005

Histopathological characteristics of BRCA1- and BRCA2-associated intraperitoneal cancer: a clinic-based study.

Piek JM et al.

Familial Cancer, 2003

Molecular evidence for putative tumour suppressor genes on chromosome 13q specific to BRCA1 related ovarian and fallopian tube cancer.

Jongsma AP et al.

Molecular Pathology : Mp, 2002

Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1.

Eng C et al.

Journal of Medical Genetics, 2001

Survival analysis in familial ovarian cancer, a case control study.

Zweemer RP et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2001

Identification of specific BRCA1 and BRCA2 variants by DHPLC.

Gross E et al.

Human Mutation, 2000

The emerging importance of genetics in epidemiologic research. I. Basic concepts in human genetics and laboratory technology.

Ellsworth DL et al.

Annals of Epidemiology, 1999

A highly sensitive, fast, and economical technique for mutation analysis in hereditary breast and ovarian cancers.

Arnold N et al.

Human Mutation, 1999

Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1.

Verhoog LC et al.

Lancet (london, England), 1998

Clinical and genetic evaluation of thirty ovarian cancer families.

Zweemer RP et al.

American Journal of Obstetrics and Gynecology, 1998

The majority of 22 Dutch high-risk breast cancer families are due to either BRCA1 or BRCA2.

Peelen T et al.

European Journal of Human Genetics : Ejhg, 1996

BRCA1 mutation update and analysis.

Grade K et al.

Journal of Cancer Research and Clinical Oncology, 1996

Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families.

Friedman LS et al.

American Journal of Human Genetics, 1995

A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC.

Gross E et al.

Human Genetics, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."