Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.K3161insFs
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BRCA2

NM_000059.4:p.K3161insFs

Associated Papers

Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)-Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 Genes.

Incorvaia L et al.

Cancers, 2020

32380732 (PubMed )
Supplement: cancers-12-01158-s001.pdf

BRCA1/2 pathogenic variants in triple-negative versus luminal-like breast cancers: genotype-phenotype correlation in a cohort of 531 patients.

Incorvaia L et al.

Therapeutic Advances in Medical Oncology, 2020

A high frequency of BRCA mutations in young black women with breast cancer residing in Florida.

Pal T et al.

Cancer, 2015

The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.

Kang E et al.

Breast Cancer Research and Treatment, 2015

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

Foley SB et al.

Ebiomedicine, 2015

26023681 (PubMed )
Supplement: mmc1.pdf

Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.

Kim H et al.

Breast Cancer Research and Treatment, 2012

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A et al.

Human Mutation, 2010

Comprehensive mutational analysis of BRCA1/BRCA2 for Korean breast cancer patients: evidence of a founder mutation.

Seong MW et al.

Clinical Genetics, 2009

Methylation not a frequent "second hit" in tumors with germline BRCA mutations.

Dworkin AM et al.

Familial Cancer, 2009

Microinvasive fimbrial fallopian tube carcinoma in a BRCA-2 mutation carrier.

Paccagnella GL et al.

International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics, 2008

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

p53 inactivation is a rare event in familial breast tumors negative for BRCA1 and BRCA2 mutations.

Sensi E et al.

Breast Cancer Research and Treatment, 2003

Inherited BRCA2 mutations in African Americans with breast and/or ovarian cancer: a study of familial and early onset cases.

Kanaan Y et al.

Human Genetics, 2003

Different expressivity of BRCA1 and BRCA2: analysis of 179 Italian pedigrees with identified mutation.

Aretini P et al.

Breast Cancer Research and Treatment, 2003

Breast cancer genetics in African Americans.

Olopade OI et al.

Cancer, 2003

Identification of BRCA1 and BRCA2 carriers by allele-specific gene expression (AGE) analysis.

Montagna M et al.

International Journal of Cancer, 2002

Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.

Meindl A

International Journal of Cancer, 2002

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