Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer (Q28271817)

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English	Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer	scientific article

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scholarly article

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Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer (English)

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Anne-Marie Gerdes

8

object named as

Anne-Marie Gerdes

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Lise Barlebo Ahlborn

object named as

Lise B Ahlborn

2

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5

object named as

Bent Ejlertsen

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Finn Cilius Nielsen

7

object named as

Finn C Nielsen

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author name string

Lars Jønson

1

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Ane Y Steffensen

3

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Malene Djursby

4

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Susanne Timshel

6

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Thomas V O Hansen

9

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language of work or name

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publication date

January 2016

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Breast Cancer Research and Treatment

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155

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2

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215-22

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Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies

1 reference

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21 January 2018

Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2

1 reference

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Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: high cancer incidence at older age.

1 reference

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21 January 2018

Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families.

1 reference

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Novel de novo BRCA2 mutation in a patient with a family history of breast cancer

1 reference

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A common Greenlandic Inuit BRCA1 RING domain founder mutation

1 reference

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Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for br

1 reference

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21 January 2018

Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations.

1 reference

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21 January 2018

Functional characterization of BRCA1 gene variants by mini-gene splicing assay

1 reference

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21 January 2018

Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations

1 reference

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21 January 2018

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

1 reference

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21 January 2018

BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer.

1 reference

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21 January 2018

A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing.

1 reference

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21 January 2018

Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome

1 reference

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21 January 2018

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

1 reference

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21 January 2018

RAD51 paralogs: roles in DNA damage signalling, recombinational repair and tumorigenesis

1 reference

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21 January 2018

RAD51C germline mutations in breast and ovarian cancer patients

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21 January 2018

RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families

1 reference

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21 January 2018

RAD51C germline mutations in breast and ovarian cancer cases from high-risk families

1 reference

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21 January 2018

Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status

1 reference

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21 January 2018

Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing.

1 reference

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21 January 2018

Germline mutations in RAD51C in Jewish high cancer risk families

1 reference

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21 January 2018

Germline RAD51C mutations confer susceptibility to ovarian cancer

1 reference

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21 January 2018

Mutation screening of RAD51C in high-risk breast and ovarian cancer families

1 reference

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21 January 2018

RAD51C is a susceptibility gene for ovarian cancer

1 reference

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21 January 2018

Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas

1 reference

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21 January 2018

RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families

1 reference

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21 January 2018

Mutation screening of RAD51C in male breast cancer patients.

1 reference

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21 January 2018

Mutation of the RAD51C gene in a Fanconi anemia-like disorder

1 reference

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21 January 2018

Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility

1 reference

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21 January 2018

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing

1 reference

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21 January 2018

BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer.

1 reference

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21 January 2018

Screening RAD51C nucleotide alterations in patients with a family history of breast and ovarian cancer

1 reference

https://api.crossref.org/works/10.1007%2FS10549-015-3674-Y

21 January 2018

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer

1 reference

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21 January 2018

Genetic testing for RAD51C mutations: in the clinic and community

1 reference

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21 January 2018

Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic

1 reference

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21 January 2018

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

1 reference

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21 January 2018

Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A.

1 reference

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Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

1 reference

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Whole-exome sequencing of 2,000 Danish individuals and the role of rare coding variants in type 2 diabetes

1 reference

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21 January 2018

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10.1007/S10549-015-3674-Y

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