Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.P173S
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BRCA1

NM_007294.4:p.P173S

Associated Papers

DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.

Diabate M et al.

Plos Genetics, 2023

37578980 (PubMed )
Supplement: pgen.1010739.s006.xlsx › Sheet1

Uterine Cavity Lavage Mutation Analysis in Lithuanian Ovarian Cancer Patients.

Žilovič D et al.

Cancers, 2023

36765826 (PubMed )
Supplement: cancers-15-00868-s001.zip › cancers-2125909-supplementary.pdf

Refinement of the assignment to the ACMG/AMP BS3 and PS3 criteria of eight BRCA1 variants of uncertain significance by integrating available functional data with protein interaction assays.

Caleca L et al.

Frontiers in Oncology, 2023

37168384 (PubMed )
Supplement: Table_1.xlsx › ST3_Discordant_Variants

Characterization of BRCA1-deficient premalignant tissues and cancers identifies Plekha5 as a tumor metastasis suppressor.

Liu J et al.

Nature Communications, 2020

32978388 (PubMed )
Supplement: 41467_2020_18637_MOESM8_ESM.xlsx › 476MMG_and_476PT

Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

da Costa E Silva Carvalho S et al.

Bmc Medical Genomics, 2020

Clinical importance of FANCD2, BRIP1, BRCA1, BRCA2 and FANCF expression in ovarian carcinomas.

Moes-Sosnowska J et al.

Cancer Biology & Therapy, 2019

30822218 (PubMed )
Supplement: kcbt-20-06-1579955-s001.zip › Supplementary_information › Supplementary_Data_1_Revised_Clinical_impor_2017CBT10962_JMoes-Sosnowska_15_01_2019.pdf

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.

Bonache S et al.

Journal of Cancer Research and Clinical Oncology, 2018

Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families.

Guénard F et al.

Journal of Human Genetics, 2008

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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."