Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.F697_P698del2
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BRCA1

NM_007294.4:p.F697_P698del2

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

Risk of lymphoid malignancy associated with cancer predisposition genes.

Boddicker NJ et al.

Blood Cancer Journal, 2025

40253392 (PubMed )
Supplement: 41408_2025_1283_MOESM1_ESM.xlsx › Table_S15

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_6

Long-term outcomes of young, node-negative, chemotherapy-naïve, triple-negative breast cancer patients according to BRCA1 status.

Wang Y et al.

Bmc Medicine, 2024

38191387 (PubMed )
Supplement: 12916_2023_3233_MOESM3_ESM.docx

Germline loss-of-function BRCA1 and BRCA2 mutations and risk of de novo hematopoietic malignancies.

Stubbins RJ et al.

Haematologica, 2024

37139596 (PubMed )
Supplement: 2022_281580_STUBBINS_SUPPL.pdf

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?

Lavoro A et al.

International Journal of Oncology, 2022

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Haverfield EV et al.

Bmc Medicine, 2021

34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_ESM.pdf

BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway.

Heramb C et al.

Hereditary Cancer in Clinical Practice, 2018

BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study.

Høberg-Vetti H et al.

European Journal of Human Genetics : Ejhg, 2016

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

Parsons DW et al.

Jama Oncology, 2016

Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.

Wong-Brown MW et al.

Breast Cancer Research and Treatment, 2015

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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."