Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.R350delFs
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BRCA1

NM_007294.4:p.R350delFs

Associated Papers

Human iPSC-derived fallopian tube organoids with BRCA1 mutation recapitulate early-stage carcinogenesis.

Yucer N et al.

Cell Reports, 2021

Tumor BRCA1 Reversion Mutation Arising during Neoadjuvant Platinum-Based Chemotherapy in Triple-Negative Breast Cancer Is Associated with Therapy Resistance.

Afghahi A et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

Absence of BRCA/FMR1 correlations in women with ovarian cancers.

Gleicher N et al.

Plos One, 2014

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

Hondow HL et al.

Bmc Cancer, 2011

21702907 (PubMed )
Supplement: 1471-2407-11-265-S5.XLS › Variants_in_targ._validation

Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.

Zhang S et al.

Gynecologic Oncology, 2011

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

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T et al.

Cancer Research, 2005

Are medullary breast cancers an indication for BRCA1 mutation screening? A mutation analysis of 42 cases of medullary breast cancer.

Iau PT et al.

Breast Cancer Research and Treatment, 2004

Loss of heterozygosity in bilateral breast cancer.

Kollias J et al.

Breast Cancer Research and Treatment, 2000

BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer.

Couch FJ et al.

The New England Journal of Medicine, 1997

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

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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."