Search: WFRF:(Tang Jiangbo) >
Case-control analys...
Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility
-
- Mantere, Tuomo (author)
- University of Oulu
-
- Tervasmäki, Anna (author)
- University of Oulu
-
- Nurmi, Anna (author)
- University of Helsinki,Helsinki University Central Hospital
-
show more...
-
- Rapakko, Katrin (author)
- Northern Finland Laboratory Centre,Lausanne University Hospital
-
- Kauppila, Saila (author)
- University of Oulu
-
- Tang, Jiangbo (author)
- University of Pennsylvania
-
- Schleutker, Johanna (author)
- Turku University Hospital,University of Turku
-
- Kallioniemi, Anne (author)
- University of Tampere
-
- Hartikainen, Jaana M (author)
- University of Eastern Finland,Kuopio University Hospital
-
- Mannermaa, Arto (author)
- Kuopio University Hospital,University of Eastern Finland
-
- Nieminen, Pentti (author)
- University of Oulu
-
- Hanhisalo, Riitta (author)
- Northern Finland Laboratory Centre
-
- Lehto, Sini (author)
- University of Helsinki,Helsinki University Central Hospital
-
- Suvanto, Maija (author)
- Helsinki University Central Hospital,University of Helsinki
-
- Grip, Mervi (author)
- University of Oulu
-
- Jukkola-Vuorinen, Arja (author)
- University of Oulu,Oulu University Hospital
-
- Tengström, Maria (author)
- Kuopio University Hospital,University of Eastern Finland
-
- Auvinen, Päivi (author)
- Kuopio University Hospital,University of Eastern Finland
-
- Kvist, Anders (author)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine
-
- Borg, Åke (author)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine
-
- Blomqvist, Carl (author)
- Örebro University,Helsinki University Central Hospital
-
- Aittomäki, Kristiina (author)
- University of Helsinki,Helsinki University Central Hospital
-
- Greenberg, Roger A. (author)
- University of Pennsylvania
-
- Winqvist, Robert (author)
- University of Oulu
-
- Nevanlinna, Heli (author)
- Helsinki University Central Hospital,University of Helsinki
-
- Pylkäs, Katri (author)
- University of Oulu
-
show less...
-
(creator_code:org_t)
- 2017-04-06
- 2017
- English.
-
In: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 7:1
- Related links:
-
http://dx.doi.org/10... (free)
-
show more...
-
https://doi.org/10.1...
-
https://lup.lub.lu.s...
-
https://doi.org/10.1...
-
show less...
Abstract
Subject headings
Close
- Several known breast cancer susceptibility genes encode proteins involved in DNA damage response (DDR) and are characterized by rare loss-of-function mutations. However, these explain less than half of the familial cases. To identify novel susceptibility factors, 39 rare truncating mutations, identified in 189 Northern Finnish hereditary breast cancer patients in parallel sequencing of 796 DDR genes, were studied for disease association. Mutation screening was performed for Northern Finnish breast cancer cases (n = 578-1565) and controls (n = 337-1228). Mutations showing potential cancer association were analyzed in additional Finnish cohorts. c.7253dupT in TEX15, encoding a DDR factor important in meiosis, associated with hereditary breast cancer (p = 0.018) and likely represents a Northern Finnish founder mutation. A deleterious c.2715 + 1G > A mutation in the Fanconi anemia gene, FANCD2, was over two times more common in the combined Finnish hereditary cohort compared to controls. A deletion (c.640-644del5) in RNF168, causative for recessive RIDDLE syndrome, had high prevalence in majority of the analyzed cohorts, but did not associate with breast cancer. In conclusion, truncating variants in TEX15 and FANCD2 are potential breast cancer risk factors, warranting further investigations in other populations. Furthermore, high frequency of RNF168 c.640-644del5 indicates the need for its testing in Finnish patients with RIDDLE syndrome symptoms.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
Find in a library
To the university's database
- By the author/editor
-
Mantere, Tuomo
-
Tervasmäki, Anna
-
Nurmi, Anna
-
Rapakko, Katrin
-
Kauppila, Saila
-
Tang, Jiangbo
-
show more...
-
Schleutker, Joha ...
-
Kallioniemi, Ann ...
-
Hartikainen, Jaa ...
-
Mannermaa, Arto
-
Nieminen, Pentti
-
Hanhisalo, Riitt ...
-
Lehto, Sini
-
Suvanto, Maija
-
Grip, Mervi
-
Jukkola-Vuorinen ...
-
Tengström, Maria
-
Auvinen, Päivi
-
Kvist, Anders
-
Borg, Åke
-
Blomqvist, Carl
-
Aittomäki, Krist ...
-
Greenberg, Roger ...
-
Winqvist, Robert
-
Nevanlinna, Heli
-
Pylkäs, Katri
-
show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Clinical Medicin ...
-
and Cancer and Oncol ...
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Basic Medicine
-
and Medical Genetics
- Articles in the publication
-
Scientific Repor ...
- By the university
-
Lund University