Low-level constitutional mosaicism of a de novoBRCA1 gene mutation

British Journal of Cancer

Volumn 112, Issue 4, 2015, Pages 765-768

  Friedman, E ^a,b   Efrat, N ^c   Soussan Gutman, L ^d   Dvir, A ^d   Kaplan, Y ^d   Ekstein, T ^e   Nykamp, K ^e   Powers, M ^e   Rabideau, M ^e   Sorenson, J ^e   Topper, S ^e  

^a GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c KAPLAN MEDICAL CENTER   (Israel)

^d Teva Pharmeceuticals Industries   (Israel)

^e Clinical Molecular Geneticist and Cytogeneticist Invitae Corportation   (United States)

Author keywords

BRCA1 germline mutations; breast cancer predisposition; constitutional mosaicism; deep sequencing

Indexed keywords

BEVACIZUMAB; BRCA1 PROTEIN; CAPECITABINE; CARBOPLATIN; CISPLATIN; CYCLOPHOSPHAMIDE; DOXORUBICIN; GEMCITABINE; PACLITAXEL; BRCA1 PROTEIN, HUMAN;

ADULT; ARTICLE; BREAST; CANCER ADJUVANT THERAPY; CANCER COMBINATION CHEMOTHERAPY; CASE REPORT; DNA SEQUENCE; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GERMLINE MUTATION; HUMAN; HUMAN TISSUE; LEUKOCYTE; MASTECTOMY; MOSAICISM; NEXT GENERATION SEQUENCING; ONSET AGE; PRIORITY JOURNAL; TREATMENT RESPONSE; TRIPLE NEGATIVE BREAST CANCER; TUMOR GENE; TUMOR SUPPRESSOR GENE; BREAST TUMOR; FATALITY; GENETICS; MISSENSE MUTATION; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; BRCA1 PROTEIN; BREAST NEOPLASMS; FATAL OUTCOME; FEMALE; HUMANS; MOSAICISM; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84923610613     PISSN: 00070920     EISSN: 15321827     Source Type: Journal    
DOI: 10.1038/bjc.2015.14     Document Type: Article

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