Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.P1776_T1777insFs
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BRCA1

NM_007294.4:p.P1776_T1777insFs

Associated Papers

The Molecular Detection of Germline Mutations in the BRCA1 and BRCA2 Genes Associated with Breast and Ovarian Cancer in a Romanian Cohort of 616 Patients.

Grigore LG et al.

Current Issues in Molecular Biology, 2024

Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants - an Asian study of 572 families.

Ho WK et al.

The Lancet Regional Health. Western Pacific, 2024

38333895 (PubMed )
Supplement: mmc1.xlsx › Table_S5

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil.

Pereira JZ et al.

Molecular Biology Reports, 2022

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA1

Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.

Ho PJ et al.

Bmc Medicine, 2022

35468796 (PubMed )
Supplement: 12916_2022_2334_MOESM2_ESM.xlsx › sT2

Germline BRCA1 and BRCA2 mutations and the risk of bladder or kidney cancer in Poland.

Złowocka-Perłowska E et al.

Hereditary Cancer in Clinical Practice, 2022

Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Ho PJ et al.

Genome Medicine, 2021

34857041 (PubMed )
Supplement: 13073_2021_978_MOESM1_ESM.xlsx › sT2

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s006.xlsx › BRCA1_ethnic_source_

Accuracy of Risk Prediction Models for Breast Cancer and BRCA1/BRCA2 Mutation Carrier Probabilities in Israel.

Kenan ES et al.

Anticancer Research, 2018

Genetic alterations in sporadic triple negative breast cancer.

Pop LA et al.

Breast (edinburgh, Scotland), 2018

Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia.

Wen WX et al.

Journal of Medical Genetics, 2018

28993434 (PubMed )
Supplement: jmedgenet-2017-104947supp001.pdf

Simultaneous detection of BRCA mutations and large genomic rearrangements in germline DNA and FFPE tumor samples.

Enyedi et al.

Oncotarget, 2016

Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory.

Strom CM et al.

Plos One, 2015

Recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history.

Kang PC et al.

Breast Cancer Research and Treatment, 2014

High prevalence of BRCA1 founder mutations in Greek breast/ovarian families.

Konstantopoulou I et al.

Clinical Genetics, 2014

Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study.

Fostira F et al.

Breast Cancer Research and Treatment, 2012

In Vitro Enhanced Sensitivity to Cisplatin in D67Y BRCA1 RING Domain Protein.

Atipairin A et al.

Breast Cancer : Basic and Clinical Research, 2011

BRCA1-associated breast and ovarian cancer risks in Poland: no association with commonly studied polymorphisms.

Jakubowska A et al.

Breast Cancer Research and Treatment, 2010

Age at onset of bilateral breast cancer, the presence of hereditary BRCA1, BRCA2, CHEK2 gene mutations and positive family history of cancer.

Skasko E et al.

Onkologie, 2009

Do BRCA1 modifiers also affect the risk of breast cancer in non-carriers?

Jakubowska A et al.

European Journal of Cancer (oxford, England : 1990), 2009

Response to neo-adjuvant chemotherapy in women with BRCA1-positive breast cancers.

Byrski T et al.

Breast Cancer Research and Treatment, 2008

Selected aspects of inherited susceptibility to prostate cancer and tumours of different site of origin.

Cybulski C

Hereditary Cancer in Clinical Practice, 2007

CDKN2A-positive breast cancers in young women from Poland.

Debniak T et al.

Breast Cancer Research and Treatment, 2007

Some molecular and clinical aspects of genetic predisposition to malignant melanoma and tumours of various site of origin.

Debniak T

Hereditary Cancer in Clinical Practice, 2007

A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland.

Cybulski C et al.

Breast Cancer Research and Treatment, 2007

BRCA1-positive breast cancers in young women from Poland.

Lubiński J et al.

Breast Cancer Research and Treatment, 2006

CHEK2-positive breast cancers in young Polish women.

Cybulski C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2006

Selected Aspects of Molecular Diagnostics of Constitutional Alterations in BRCA1 and BRCA2 Genes Associated with Increased Risk of Breast Cancer in the Polish Population.

Górski B

Hereditary Cancer in Clinical Practice, 2006

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

van der Hout AH et al.

Human Mutation, 2006

Breast cancer predisposing alleles in Poland.

Górski B et al.

Breast Cancer Research and Treatment, 2005

Gene expression profiling after radiation-induced DNA damage is strongly predictive of BRCA1 mutation carrier status.

Kote-Jarai Z et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2004

A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer.

Jakubowska A et al.

European Journal of Human Genetics : Ejhg, 2003

Hereditary ovarian cancer in Poland.

Menkiszak J et al.

International Journal of Cancer, 2003

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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."