Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.T1256_E1257insFs
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BRCA1

NM_007294.4:p.T1256_E1257insFs

Associated Papers

Comprehensive germline profiling of patients with breast cancer: initial experience from a Familial Cancer Clinic.

Pramanik R et al.

Ecancermedicalscience, 2024

The Genetic Analyses of French Canadians of Quebec Facilitate the Characterization of New Cancer Predisposing Genes Implicated in Hereditary Breast and/or Ovarian Cancer Syndrome Families.

Fierheller CT et al.

Cancers, 2021

Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.

Shin HC et al.

Cancer Research and Treatment, 2020

Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls.

Behl S et al.

Scientific Reports, 2020

A targeted analysis identifies a high frequency of BRCA1 and BRCA2 mutation carriers in women with ovarian cancer from a founder population.

Belanger MH et al.

Journal of Ovarian Research, 2015

BRCA1 and BRCA2 mutations in the ovarian cancer population across race and ethnicity: special reference to Asia.

Shanmughapriya S et al.

Oncology, 2013

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

Zhang S et al.

Gynecologic Oncology, 2011

Comprehensive BRCA1 and BRCA2 mutation analyses and review of French Canadian families with at least three cases of breast cancer.

Cavallone L et al.

Familial Cancer, 2010

The contribution of BRCA1 and BRCA2 to ovarian cancer.

Ramus SJ et al.

Molecular Oncology, 2009

CpG/CpNpG motifs in the coding region are preferred sites for mutagenesis in the breast cancer susceptibility genes.

Cheung LW et al.

Febs Letters, 2007

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

Significant proportion of breast and/or ovarian cancer families of French Canadian descent harbor 1 of 5 BRCA1 and BRCA2 mutations.

Oros KK et al.

International Journal of Cancer, 2004

Founder BRCA1 and BRCA2 mutations in early-onset French Canadian breast cancer cases unselected for family history.

Tonin PN et al.

International Journal of Cancer, 2001

Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer.

Risch HA et al.

American Journal of Human Genetics, 2001

A rapid fluorescent multiplexed-PCR analysis (FMPA) for founder mutations in the BRCA1 and BRCA2 genes.

Kuperstein G et al.

Clinical Genetics, 2000

Founder BRCA1 and BRCA2 mutations in French Canadian ovarian cancer cases unselected for family history.

Tonin PN et al.

Clinical Genetics, 1999

A case of loss of heterozygosity in the BRCA2 gene of a borderline ovarian tumor: case report and review of literature.

Verbruggen MB et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 0

Assessing breast cancer risk and BRCA1/2 carrier probability.

Culver J et al.

Breast Disease, 0

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