Muranen, Taru A., Khan, Sofia, Fagerholm, Rainer, Aittomaeki, Kristiina, Cunningham, Julie M., Dennis, Joe, Leslie, Goska ORCID: 0000-0001-5756-6222, McGuffog, Lesley, Parsons, Michael T., Simard, Jacques ORCID: 0000-0001-6906-3390, Slager, Susan, Soucy, Penny, Easton, Douglas F., Tischkowitz, Marc, Spurdle, Amanda B., Schmutzler, Rita K., Wappenschmidt, Barbara, Hahnen, Eric, Hooning, Maartje J., Singer, Christian F., Wagner, Gabriel, Thomassen, Mads, Pedersen, Inge Sokilde ORCID: 0000-0002-9902-8040, Domchek, Susan M., Nathanson, Katherine L., Lazaro, Conxi, Rossing, Caroline Maria, Andrulis, Irene L., Teixeira, Manuel R., James, Paul, Garber, Judy, Weitzel, Jeffrey N., Jakubowska, Anna, Yannoukakos, Drakoulis, John, Esther M., Southey, Melissa C., Schmidt, Marjanka K., Antoniou, Antonis C., Chenevix-Trench, Georgia, Blomqvist, Carl and Nevanlinna, Heli (2020). Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer. npj Breast Cancer, 6 (1). LONDON: NATURE PUBLISHING GROUP. ISSN 2374-4677

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Abstract

Germline genetic variation has been suggested to influence the survival of breast cancer patients independently of tumor pathology. We have studied survival associations of genetic variants in two etiologically unique groups of breast cancer patients, the carriers of germline pathogenic variants in BRCA1 or BRCA2 genes. We found that rs57025206 was significantly associated with the overall survival, predicting higher mortality of BRCA1 carrier patients with estrogen receptor-negative breast cancer, with a hazard ratio 4.37 (95% confidence interval 3.03-6.30, P=3.1x10(-9)). Multivariable analysis adjusted for tumor characteristics suggested that rs57025206 was an independent survival marker. In addition, our exploratory analyses suggest that the associations between genetic variants and breast cancer patient survival may depend on tumor biological subgroup and clinical patient characteristics.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Muranen, Taru A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Khan, SofiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fagerholm, RainerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Aittomaeki, KristiinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cunningham, Julie M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dennis, JoeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Leslie, GoskaUNSPECIFIEDorcid.org/0000-0001-5756-6222UNSPECIFIED
McGuffog, LesleyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Parsons, Michael T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Simard, JacquesUNSPECIFIEDorcid.org/0000-0001-6906-3390UNSPECIFIED
Slager, SusanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Soucy, PennyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Easton, Douglas F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tischkowitz, MarcUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Spurdle, Amanda B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmutzler, Rita K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wappenschmidt, BarbaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hahnen, EricUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hooning, Maartje J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Singer, Christian F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wagner, GabrielUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thomassen, MadsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pedersen, Inge SokildeUNSPECIFIEDorcid.org/0000-0002-9902-8040UNSPECIFIED
Domchek, Susan M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nathanson, Katherine L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lazaro, ConxiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rossing, Caroline MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Andrulis, Irene L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Teixeira, Manuel R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
James, PaulUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garber, JudyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weitzel, Jeffrey N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jakubowska, AnnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Yannoukakos, DrakoulisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
John, Esther M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Southey, Melissa C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmidt, Marjanka K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Antoniou, Antonis C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chenevix-Trench, GeorgiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blomqvist, CarlUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nevanlinna, HeliUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-319430
DOI: 10.1038/s41523-020-00185-6
Journal or Publication Title: npj Breast Cancer
Volume: 6
Number: 1
Date: 2020
Publisher: NATURE PUBLISHING GROUP
Place of Publication: LONDON
ISSN: 2374-4677
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
INTERNATIONAL EXPERT CONSENSUS; FALSE DISCOVERY; PRIMARY THERAPY; CELLS; EXPRESSION; REVEALS; OVARIAN; GENES; RISK; IDENTIFICATIONMultiple languages
OncologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/31943

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