Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance

Breast Cancer Research and Treatment

Volumn 145, Issue 2, 2014, Pages 451-460

  Surowy, Harald Martin ^a,b   Sutter, Christian ^a   Mittnacht, Max ^a   Klaes, Ruediger ^a,c   Schaefer, Dieter ^d   Evers, Christina ^a   Burgemeister, Anna Lena ^a   Goehringer, Caroline ^a   Dikow, Nicola ^a   Heil, Joerg ^a   Golatta, Michael ^a   Schott, Sarah ^a   Schneeweiss, Andreas ^e   Bugert, Peter ^a   Sohn, Christof ^a   Bartram, Claus Rainer ^a   Burwinkel, Barbara ^a,b  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^c Zentrum fuer Humangenetik Mannheim (ZHMA)   (Germany)

^d UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^e UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

BRCA2 gene; Breast cancer risk; Familial breast and ovarian cancer; Unclassified variant; Variant of uncertain clinical significance

Indexed keywords

ASPARAGINE; BRCA1 PROTEIN; BRCA2 PROTEIN; GENOMIC DNA; ISOLEUCINE; BRCA1 PROTEIN, HUMAN; BRCA2 PROTEIN, HUMAN;

ADULT; ARTICLE; BREAST CANCER; BREAST CARCINOGENESIS; CANCER FAMILY; CANCER RISK; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; COMPUTER ANALYSIS; CONTROLLED STUDY; DNA SEQUENCE; FAMILIAL CANCER; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC CONSERVATION; GENETIC VARIABILITY; HUMAN; MALE; MALE BREAST CANCER; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OVARY CANCER; PANCREAS CANCER; PREVALENCE; PRIORITY JOURNAL; PROSTATE CANCER; PROTEIN STRUCTURE; STOMACH CANCER; TRIPLE NEGATIVE BREAST CANCER; TUMOR SUPPRESSOR GENE; VARIANT OF UNCERTAIN CLINICAL SIGNIFICANCE; AMINO ACID SUBSTITUTION; BREAST TUMOR; CASE CONTROL STUDY; CHEMISTRY; COMPUTER SIMULATION; GENETIC PREDISPOSITION; GENETICS; GERMANY; MUTATION; OVARY TUMOR; PEDIGREE;

AMINO ACID SUBSTITUTION; BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; BREAST NEOPLASMS, MALE; CASE-CONTROL STUDIES; COMPUTER SIMULATION; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERMANY; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; OVARIAN NEOPLASMS; PEDIGREE;

EID: 84901692935     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-014-2943-5     Document Type: Article

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