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FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population

Kiiski, Johanna I. (författare)
Helsinki University Central Hospital
Tervasmäki, Anna (författare)
University of Oulu
Pelttari, Liisa M (författare)
Helsinki University Central Hospital
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Khan, Sofia (författare)
Helsinki University Central Hospital
Mantere, Tuomo (författare)
University of Oulu
Pylkäs, Katri (författare)
University of Oulu
Mannermaa, Arto (författare)
University of Eastern Finland,Kuopio University Hospital
Tengström, Maria (författare)
Kuopio University Hospital
Kvist, Anders (författare)
Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Familjär bröstcancer,Forskargrupper vid Lunds universitet,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Familial Breast Cancer,Lund University Research Groups
Borg, Åke (författare)
Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Familjär bröstcancer,Forskargrupper vid Lunds universitet,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Familial Breast Cancer,Lund University Research Groups
Kosma, Veli-Matti (författare)
University of Eastern Finland,Kuopio University Hospital
Kallioniemi, Anne (författare)
University of Tampere
Schleutker, Johanna (författare)
Turku University Hospital,University of Turku
Bützow, Ralf (författare)
Helsinki University Central Hospital
Blomqvist, Carl (författare)
Helsinki University Central Hospital
Aittomäki, Kristiina (författare)
Helsinki University Central Hospital
Winqvist, Robert (författare)
University of Oulu
Nevanlinna, Heli (författare)
Helsinki University Central Hospital
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 (creator_code:org_t)
2017-07-12
2017
Engelska.
Ingår i: Breast Cancer Research and Treatment. - : Springer Science and Business Media LLC. - 0167-6806 .- 1573-7217. ; 166:1, s. 217-226
Relaterad länk:
http://dx.doi.org/10... (free)
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https://lup.lub.lu.s...
https://doi.org/10.1...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
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  • Purpose: The FANCM c.5101C>T nonsense mutation was previously found to associate with breast cancer in the Finnish population, especially among triple-negative cases. Here, we studied the prevalence of three other FANCM variants: c.5791C>T, which has been reported to predispose to familial breast cancer, and the c.4025_4026delCT and c.5293dupA variants recently identified in Finnish cancer patients. Methods: We genotyped the FANCM c.5791C>T mutation in 4806 invasive breast cancer patients, including BRCA1/2 mutation negative familial cases and unselected cases, and in 2734 healthy population controls from four different geographical areas of Finland. The association of the mutation with breast cancer risk among patient subgroups was statistically evaluated. We further analyzed the combined risk associated with c.5101C>T and c.5791C>T mutations. We also genotyped 526 unselected ovarian cancer patients for the c.5791C>T mutation and 862 familial breast cancer patients for the c.4025_4026delCT and c.5293dupA variants. Results: The frequency of the FANCM c.5791C>T mutation was higher among breast cancer cases than in controls (OR 1.94, 95% CI 0.87–4.32, P = 0.11), with a statistically significant association with triple-negative breast cancer (OR 5.14, 95% CI 1.65–16.0, P = 0.005). The combined analysis for c.5101C>T and c.5791C>T carriers confirmed a strong association with breast cancer (OR 1.86, 95% CI 1.32–2.49, P = 0.0002), especially among the triple-negative patients (OR 3.08, 95% CI 1.77–5.35, P = 0.00007). For the other variants, only one additional c.4025_4026delCT carrier and no c.5293dupA carriers were observed. Conclusions: These results support the role of FANCM as a breast cancer susceptibility gene, particularly for triple-negative breast cancer.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

Nyckelord

Breast cancer
DNA repair
Familial breast cancer
FANCM
Triple-negative breast cancer

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