Search: onr:"swepub:oai:prod.swepub.kib.ki.se:150869706" >
Copy number variant...
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
-
- Hakkaart, C (author)
- University of Otago
-
Pearson, JF (author)
-
Marquart, L (author)
-
show more...
-
Dennis, J (author)
-
Wiggins, GAR (author)
-
Barnes, DR (author)
-
Robinson, BA (author)
-
Mace, PD (author)
-
Aittomaki, K (author)
-
Andrulis, IL (author)
-
Arun, BK (author)
-
Azzollini, J (author)
-
Balmana, J (author)
-
Barkardottir, RB (author)
-
Belhadj, S (author)
-
Berger, L (author)
-
Blok, MJ (author)
-
Boonen, SE (author)
-
Borde, J (author)
-
Bradbury, AR (author)
-
Brunet, J (author)
-
Buys, SS (author)
-
Caligo, MA (author)
-
Campbell, I (author)
-
Chung, WK (author)
-
Claes, KBM (author)
-
Collonge-Rame, MA (author)
-
Cook, J (author)
-
- Cosgrove, C (author)
- University of Otago
-
Couch, FJ (author)
-
Daly, MB (author)
-
Dandiker, S (author)
-
Davidson, R (author)
-
de la Hoya, M (author)
-
de Putter, R (author)
-
Delnatte, C (author)
-
Dhawan, M (author)
-
Diez, O (author)
-
Ding, YC (author)
-
Domchek, SM (author)
-
Donaldson, A (author)
-
Eason, J (author)
-
Easton, DF (author)
-
- Ehrencrona, H. (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Skåne University Hospital
-
Engel, C (author)
-
Evans, DG (author)
-
Faust, U (author)
-
Feliubadalo, L (author)
-
Fostira, F (author)
-
Friedman, E (author)
-
Frone, M (author)
-
Frost, D (author)
-
Garber, J (author)
-
Gayther, SA (author)
-
Gehrig, A (author)
-
Gesta, P (author)
-
Godwin, AK (author)
-
Goldgar, DE (author)
-
Greene, MH (author)
-
Hahnen, E (author)
-
Hake, CR (author)
-
Hamann, U (author)
-
Hansen, TVO (author)
-
Hauke, J (author)
-
Hentschel, J (author)
-
Herold, N (author)
-
Honisch, E (author)
-
Hulick, PJ (author)
-
Imyanitov, EN (author)
-
Isaacs, C (author)
-
Izatt, L (author)
-
Izquierdo, A (author)
-
Jakubowska, A (author)
-
James, PA (author)
-
- Janavicius, R (author)
- Karolinska Institutet
-
John, EM (author)
-
Joseph, V (author)
-
Karlan, BY (author)
-
Kemp, Z (author)
-
Kirk, J (author)
-
Konstantopoulou, I (author)
-
Koudijs, M (author)
-
Kwong, A (author)
-
Laitman, Y (author)
-
Lalloo, F (author)
-
Lasset, C (author)
-
Lautrup, C (author)
-
Lazaro, C (author)
-
Legrand, C (author)
-
Leslie, G (author)
-
Lesueur, F (author)
-
Mai, PL (author)
-
Manoukian, S (author)
-
Mari, V (author)
-
Martens, JWM (author)
-
McGuffog, L (author)
-
Mebirouk, N (author)
-
Meindl, A (author)
-
Miller, A (author)
-
Montagna, M (author)
-
Moserle, L (author)
-
Mouret-Fourme, E (author)
-
Musgrave, H (author)
-
Nambot, S (author)
-
Nathanson, KL (author)
-
Neuhausen, SL (author)
-
Nevanlinna, H (author)
-
Yie, JNY (author)
-
Nguyen-Dumont, T (author)
-
Nikitina-Zake, L (author)
-
Offit, K (author)
-
Olah, E (author)
-
Olopade, OI (author)
-
Osorio, A (author)
-
Ott, CE (author)
-
Park, SK (author)
-
Parsons, MT (author)
-
Pedersen, IS (author)
-
Peixoto, A (author)
-
Perez-Segura, P (author)
-
Peterlongo, P (author)
-
Pocza, T (author)
-
Radice, P (author)
-
Ramser, J (author)
-
- Rantala, J (author)
- Karolinska Institutet
-
Rodriguez, GC (author)
-
Ronlund, K (author)
-
Rosenberg, EH (author)
-
Rossing, M (author)
-
Schmutzler, RK (author)
-
Shah, PYD (author)
-
Sharif, S (author)
-
Sharma, P (author)
-
Side, LE (author)
-
Simard, J (author)
-
Singer, CF (author)
-
Snape, K (author)
-
Steinemann, D (author)
-
Stoppa-Lyonnet, D (author)
-
Sutter, C (author)
-
Tan, YY (author)
-
Teixeira, MR (author)
-
Teo, SH (author)
-
Thomassen, M (author)
-
Thull, DL (author)
-
Tischkowitz, M (author)
-
Toland, AE (author)
-
Trainer, AH (author)
-
Tripathi, V (author)
-
Tung, NA (author)
-
van Engelen, K (author)
-
van Rensburg, EJ (author)
-
Vega, A (author)
-
Viel, A (author)
-
Walker, L (author)
-
Weitzel, JN (author)
-
Wevers, MR (author)
-
Chenevix-Trench, G (author)
-
Spurdle, AB (author)
-
Antoniou, AC (author)
-
Walker, LC (author)
-
show less...
-
(creator_code:org_t)
- 2022-10-06
- 2022
- English.
-
In: Communications biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 5:1, s. 1061-
- Related links:
-
http://dx.doi.org/10... (free)
-
show more...
-
http://kipublication...
-
https://doi.org/10.1...
-
https://lup.lub.lu.s...
-
show less...
Abstract
Subject headings
Close
- The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biological validation. Notably, the HR for deletions in BRCA1 suggested an elevated breast cancer risk estimate (hazard ratio (HR) = 1.21), 95% confidence interval (95% CI = 1.09–1.35) compared with non-CNV pathogenic variants. In contrast, deletions overlapping SULT1A1 suggested a decreased breast cancer risk (HR = 0.73, 95% CI 0.59-0.91) in BRCA1 pathogenic variant carriers. Functional analyses of SULT1A1 showed that reduced mRNA expression in pathogenic BRCA1 variant cells was associated with reduced cellular proliferation and reduced DNA damage after treatment with DNA damaging agents. These data provide evidence that deleterious variants in BRCA1 plus SULT1A1 deletions contribute to variable breast cancer risk in BRCA1 carriers.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Keyword
- BRCA1 protein
- BRCA1 protein, human
- BRCA2 protein
- BRCA2 protein, human
- messenger RNA
- breast tumor
- copy number variation
- female
- genetic predisposition
- genetics
- heterozygote
- human
- pathology
- BRCA1 Protein
- BRCA2 Protein
- Breast Neoplasms
- DNA Copy Number Variations
- Female
- Genetic Predisposition to Disease
- Heterozygote
- Humans
- RNA, Messenger
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
-
Hakkaart, C
-
Pearson, JF
-
Marquart, L
-
Dennis, J
-
Wiggins, GAR
-
Barnes, DR
-
show more...
-
Robinson, BA
-
Mace, PD
-
Aittomaki, K
-
Andrulis, IL
-
Arun, BK
-
Azzollini, J
-
Balmana, J
-
Barkardottir, RB
-
Belhadj, S
-
Berger, L
-
Blok, MJ
-
Boonen, SE
-
Borde, J
-
Bradbury, AR
-
Brunet, J
-
Buys, SS
-
Caligo, MA
-
Campbell, I
-
Chung, WK
-
Claes, KBM
-
Collonge-Rame, M ...
-
Cook, J
-
Cosgrove, C
-
Couch, FJ
-
Daly, MB
-
Dandiker, S
-
Davidson, R
-
de la Hoya, M
-
de Putter, R
-
Delnatte, C
-
Dhawan, M
-
Diez, O
-
Ding, YC
-
Domchek, SM
-
Donaldson, A
-
Eason, J
-
Easton, DF
-
Ehrencrona, H.
-
Engel, C
-
Evans, DG
-
Faust, U
-
Feliubadalo, L
-
Fostira, F
-
Friedman, E
-
Frone, M
-
Frost, D
-
Garber, J
-
Gayther, SA
-
Gehrig, A
-
Gesta, P
-
Godwin, AK
-
Goldgar, DE
-
Greene, MH
-
Hahnen, E
-
Hake, CR
-
Hamann, U
-
Hansen, TVO
-
Hauke, J
-
Hentschel, J
-
Herold, N
-
Honisch, E
-
Hulick, PJ
-
Imyanitov, EN
-
Isaacs, C
-
Izatt, L
-
Izquierdo, A
-
Jakubowska, A
-
James, PA
-
Janavicius, R
-
John, EM
-
Joseph, V
-
Karlan, BY
-
Kemp, Z
-
Kirk, J
-
Konstantopoulou, ...
-
Koudijs, M
-
Kwong, A
-
Laitman, Y
-
Lalloo, F
-
Lasset, C
-
Lautrup, C
-
Lazaro, C
-
Legrand, C
-
Leslie, G
-
Lesueur, F
-
Mai, PL
-
Manoukian, S
-
Mari, V
-
Martens, JWM
-
McGuffog, L
-
Mebirouk, N
-
Meindl, A
-
Miller, A
-
Montagna, M
-
Moserle, L
-
Mouret-Fourme, E
-
Musgrave, H
-
Nambot, S
-
Nathanson, KL
-
Neuhausen, SL
-
Nevanlinna, H
-
Yie, JNY
-
Nguyen-Dumont, T
-
Nikitina-Zake, L
-
Offit, K
-
Olah, E
-
Olopade, OI
-
Osorio, A
-
Ott, CE
-
Park, SK
-
Parsons, MT
-
Pedersen, IS
-
Peixoto, A
-
Perez-Segura, P
-
Peterlongo, P
-
Pocza, T
-
Radice, P
-
Ramser, J
-
Rantala, J
-
Rodriguez, GC
-
Ronlund, K
-
Rosenberg, EH
-
Rossing, M
-
Schmutzler, RK
-
Shah, PYD
-
Sharif, S
-
Sharma, P
-
Side, LE
-
Simard, J
-
Singer, CF
-
Snape, K
-
Steinemann, D
-
Stoppa-Lyonnet, ...
-
Sutter, C
-
Tan, YY
-
Teixeira, MR
-
Teo, SH
-
Thomassen, M
-
Thull, DL
-
Tischkowitz, M
-
Toland, AE
-
Trainer, AH
-
Tripathi, V
-
Tung, NA
-
van Engelen, K
-
van Rensburg, EJ
-
Vega, A
-
Viel, A
-
Walker, L
-
Weitzel, JN
-
Wevers, MR
-
Chenevix-Trench, ...
-
Spurdle, AB
-
Antoniou, AC
-
Walker, LC
-
show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Clinical Medicin ...
-
and Cancer and Oncol ...
- Articles in the publication
-
Communications b ...
- By the university
-
Karolinska Institutet
-
Lund University