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The 4154delA mutation carriers in the BRCA1 gene share a common ancestry.

https://arctichealth.org/en/permalink/ahliterature153810
Source
Fam Cancer. 2009;8(1):1-4
Publication Type
Article
Date
2009
Author
Silvija Ozolina
Olga Sinicka
Eriks Jankevics
Inna Inashkina
Jan Lubinski
Bohdan Gorski
Jacek Gronwald
Tatyana Nasedkina
Olga Fedorova
Ludmila Lyubchenko
Laima Tihomirova
Author Affiliation
Latvian Biomedical Research and Study Centre, Ratsupites str. 1, Riga, 1067, Latvia.
Source
Fam Cancer. 2009;8(1):1-4
Date
2009
Language
English
Publication Type
Article
Keywords
Breast Neoplasms - genetics
DNA Mutational Analysis
Female
Founder Effect
Genes, BRCA1
Genetic Predisposition to Disease
Haplotypes
Humans
Latvia
Male
Microsatellite Repeats
Mutation
Pedigree
Poland
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Polymorphism, Single-Stranded Conformational
Russia
Abstract
Uncertainty exists whether the 4154delA mutation of the BRCA1 gene detected in unrelated individuals from Latvia, Poland and Russia is a founder mutation with a common ancestral origin. To trace back this problem we analysed the mutation-associated haplotype of the BRCA1 intragenic SNPs as well as intragenic and nearby STR markers in mutation carriers from the aforementioned populations. The mutation-associated SNP alleles were found to be "T-A-A-A-A-G" for six intragenic SNPs of the BRCA1 gene (IVS8-58delT, 3232A/G, 3667A/G, IVS16-68A/G, IVS16-92A/G, IVS18+66G/A, respectively). The alleles 195, 154, 210 and 181 were found to be associated with the 4154delA mutation for STR markers D17S1325, D17S855, D17S1328 and D17S1320, correspondingly. Further analysis of markers in the 4154delA mutation carriers from all three populations allows us to assert that all analysed mutation carriers share a common ancestry.
PubMed ID
19067236 View in PubMed
Less detail

Associations of Breast Cancer Risk Factors With Tumor Subtypes: A Pooled Analysis From the Breast Cancer Association Consortium Studies.

https://arctichealth.org/en/permalink/ahliterature99764
Source
J Natl Cancer Inst. 2010 Dec 29;
Publication Type
Article
Date
Dec-29-2010
Author
Xiaohong R Yang
Jenny Chang-Claude
Ellen L Goode
Fergus J Couch
Heli Nevanlinna
Roger L Milne
Mia Gaudet
Marjanka K Schmidt
Annegien Broeks
Angela Cox
Peter A Fasching
Rebecca Hein
Amanda B Spurdle
Fiona Blows
Kristy Driver
Dieter Flesch-Janys
Judith Heinz
Peter Sinn
Alina Vrieling
Tuomas Heikkinen
Kristiina Aittomäki
Päivi Heikkilä
Carl Blomqvist
Jolanta Lissowska
Beata Peplonska
Stephen Chanock
Jonine Figueroa
Louise Brinton
Per Hall
Kamila Czene
Keith Humphreys
Hatef Darabi
Jianjun Liu
Laura J Van 't Veer
Flora E van Leeuwen
Irene L Andrulis
Gord Glendon
Julia A Knight
Anna Marie Mulligan
Frances P O'Malley
Nayana Weerasooriya
Esther M John
Matthias W Beckmann
Arndt Hartmann
Sebastian B Weihbrecht
David L Wachter
Sebastian M Jud
Christian R Loehberg
Laura Baglietto
Dallas R English
Graham G Giles
Catriona A McLean
Gianluca Severi
Diether Lambrechts
Thijs Vandorpe
Caroline Weltens
Robert Paridaens
Ann Smeets
Patrick Neven
Hans Wildiers
Xianshu Wang
Janet E Olson
Victoria Cafourek
Zachary Fredericksen
Matthew Kosel
Celine Vachon
Helen E Cramp
Daniel Connley
Simon S Cross
Sabapathy P Balasubramanian
Malcolm W R Reed
Thilo Dörk
Michael Bremer
Andreas Meyer
Johann H Karstens
Aysun Ay
Tjoung-Won Park-Simon
Peter Hillemanns
Jose Ignacio Arias Pérez
Primitiva Menéndez Rodríguez
Pilar Zamora
Javier Benítez
Yon-Dschun Ko
Hans-Peter Fischer
Ute Hamann
Beate Pesch
Thomas Brüning
Christina Justenhoven
Hiltrud Brauch
Diana M Eccles
William J Tapper
Sue M Gerty
Elinor J Sawyer
Ian P Tomlinson
Angela Jones
Michael Kerin
Nicola Miller
Niall McInerney
Hoda Anton-Culver
Argyrios Ziogas
Chen-Yang Shen
Chia-Ni Hsiung
Pei-Ei Wu
Show-Lin Yang
Jyh-Cherng Yu
Shou-Tung Chen
Giu-Cheng Hsu
Christopher A Haiman
Brian E Henderson
Loic Le Marchand
Laurence N Kolonel
Annika Lindblom
Sara Margolin
Anna Jakubowska
Jan Lubinski
Tomasz Huzarski
Tomasz Byrski
Bohdan Górski
Jacek Gronwald
Maartje J Hooning
Antoinette Hollestelle
Ans M W van den Ouweland
Agnes Jager
Mieke Kriege
Madeleine M A Tilanus-Linthorst
Margriet Collée
Shan Wang-Gohrke
Katri Pylkäs
Arja Jukkola-Vuorinen
Kari Mononen
Mervi Grip
Pasi Hirvikoski
Robert Winqvist
Arto Mannermaa
Veli-Matti Kosma
Jaana Kauppinen
Vesa Kataja
Päivi Auvinen
Ylermi Soini
Reijo Sironen
Stig E Bojesen
David Dynnes Ørsted
Diljit Kaur-Knudsen
Henrik Flyger
Børge G Nordestgaard
Helene Holland
Georgia Chenevix-Trench
Siranoush Manoukian
Monica Barile
Paolo Radice
Susan E Hankinson
David J Hunter
Rulla Tamimi
Suleeporn Sangrajrang
Paul Brennan
James McKay
Fabrice Odefrey
Valerie Gaborieau
Peter Devilee
P E A Huijts
Raem Tollenaar
C. Seynaeve
Gillian S Dite
Carmel Apicella
John L Hopper
Fleur Hammet
Helen Tsimiklis
Letitia D Smith
Melissa C Southey
Manjeet K Humphreys
Douglas Easton
Paul Pharoah
Mark E Sherman
Montserrat Garcia-Closas
Author Affiliation
Affiliations of authors: Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Sciences, Rockville, MD (XRY, SC, JF, LBr, MES, MG-C); Section of Epidemiology and Genetics, Institute of Cancer Research, Sutton, Surrey, UK (MG-C); Division of Cancer Epidemiology, German Cancer Research Center, Heidelberg, Germany (JC-C, RH, AV); Department of Health Sciences Research (ELG, FJC, JEO, VC, ZF, MKo, CV); Department of Laboratory Medicine and Pathology (FJC, XW), Mayo Clinic, Rochester, MN; Department of Obstetrics and Gynecology (HN, THe), Department of Clinical Genetics (KA), Department of Pathology (PHe), and Department of Oncology (CB), Helsinki University Central Hospital, Helsinki, Finland; Genetic and Molecular Epidemiology Group (RLM), Human Cancer Genetic Group (JB), Spanish National Cancer Research Centre (CNIO), Madrid, Spain; Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY (MGa); Amsterdam Breast Cancer Study, Netherlands Cancer Institute, Amsterdam, the Netherlands (MKS, AB, LJVV, FEvL); Institute for Cancer Studies, Department of Oncology (AC, DC,HEC), Academic Unit of Pathology (SCC), Academic Unit of Surgical Oncology, Department of Oncology (SPB, MWRR), University of Sheffield Medical School, Sheffield, UK; Division of Hematology and Oncology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA (PAF); Department of Gynecology and Obstetrics, (MWB, SBW, SMJ, CRL), Institute of Pathology (AHa, DLW), University Breast Center Franconia, University Breast Center, University Hospital Erlangen, Erlangen, Germany; The Queensland Institute of Medical Research Post Office, Royal Brisbane Hospital, Herston, Queensland, Australia (ABS, HH, GC-T); Department of Oncology, University of Cambridge, Cambridge, UK (FB, KD, MKH, DE, PP, MG-C); Department of Medical Biometrics and Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany (DF-J, JH); Department of Pathology, University Hospital, Heidelberg, Germany (PS); Department of Cancer Epidemiology and Prevention, Cancer Center and M. Sklodowska-Curie Institute of Oncology, Warsaw, Poland (JLi); Department of Occupational and Environmental Epidemiology Nofer Institute of Occupational Medicine, Lodz, Poland (BP); Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden (PHa, KC, KH, HD); Human Genetics, Genome Institute of Singapore, Singapore, Singapore (JLi); Ontario Cancer Genetics Network (OCGN), Cancer Care Ontario, Toronto, ON, Canada (ILA, GG, NW); Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada (ILA); Dalla Lana School of Public Health, University of Toronto, Prosserman Centre for Health Research, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON, Canada (JAK); Keenan Research Centre, Li Ka Shing Knowledge Institute of St. Michael's Hospital, and Laboratory Medicine and Pathobiology (AMM), Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, and Laboratory Medicine and Pathobiology (FPOM), University of Toronto, Toronto, Ontario, Canada Northern California Cancer Center, Fremont, CA (EMJ); Department of Health Research and Policy, Stanford University School of Medicine and Stanford Cancer Center, Stanford, CA (EMJ); Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia (LB, DRE, GGG, GS); Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, The University of Melbourne, Melbourne, Australia (LBa, DRE, GGG, GS, GSD, CA, JLH); The Alfred Hospital, Melbourne, Australia (CAM); Vesalius Research Center, KU Leuven and VIB, Leuven, Belgium (DL); Department of Radiotherapy, University Hospitals, Leuven, Belgium (TV, CW, RP, AS, PN, HW); Department of Obstetrics and Gynaecology (TD, AA, T-WP-S, PH), Department of Radiation Oncology (MB, AM, JHK), Hanover Medical School, Hanover, Germany (TD, MBr, AMe, JHK, AA, T-WP-S, PHi); Servicio Cirugía General (JIAP), Servicio de Anatomía Patológica (PMR), Hospital Monte Naranco, Oviedo, Spain Servicio de Oncología Médica, Hospital La Paz, Madrid, Spain (PZ); CIBERER, Madrid, Spain (JB); Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus, Bonn, Germany (Y-DK); Institute of Pathology, Medical Faculty of the University of Bonn, Bonn, Germany (H-PF); Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany (UH); Institute for Prevention and Occupational Medicine of the German Social Accident Insurance (IPA), Bochum, Germany (BP, TBr ); Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany (CJ, HB); University of Tübingen, Tübingen, Germany (CJ, HB); University of Southampton School of Medicine, Southampton University Hospitals NHS Trust, Southampton (DME, WJT, SMG); Guy's, King's, St Thomas' Cancer Centre, Guy's Hospital, London, UK (EJS); Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK (EJS, IPT, AJo, NMc); Clinical Science Institute, University College Hospital, Galway, Ireland (MKe, NMc, NMi); Department of Epidemiology, University of California Irvine, Irvine (HA-C, AZ); Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan (C-YS, C-NH, P-EW, S-LY); Graduate Institute of Environmental Science, China Medical University, Taichung, Taiwan (C-YS); Department of Surgery (J-CY), Department of Radiology (G-CH), Tri-Service General Hospital, Taipei, Taiwan (J-CY, G-CH); Department of Surgery, Changhua Christian Hospital, Changhua, Taiwan (S-TC); Department of Preventive Medicine, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA (CAH, BEH); Epidemiology Program, Cancer Research Center, University of Hawaii, Honolulu, HI (LLM, LNK); Department of Molecular Medicine and Surgery (AL), Department of Oncology and Pathology (SMa), Karolinska Institutet, Stockholm, Sweden; International Hereditary Cancer Centre, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland (AJa, JLu, THu, TBy, BG, JG); Department of Medical Oncology Rotterdam Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, the Netherlands (MJH, AHo, AMWvdO, AJa, MKr, MMAT-L, MC); Department of Obstetrics and Gynecology, University of Ulm, Ulm, Germany (SW-G); University of Oulu, Oulu University Hospital, Oulu, Finland (KP, AJ-V, KM, MGr, PHi, RW); Department of Pathology, Institute of Clinical Medicine, University of Eastern Finland and Kuopio University Hospital; Biocenter Kuopio, Kuopio, Finland (AMa, V-MK, JK, YS, RS); Department of Oncology, Vaasa Central Hospital, Vaasa, Finland (VK); Department of Oncology, Kuopio University Hospital, Kuopio, Finland (PA); The Peter MacCallum Cancer Centre, East Melbourne, Australia (kConFab); Department of Clinical Biochemistry and Department of Breast Surgery, Herlev University Hospital, University of Copenhagen, Copenhagen, Denmark (SEB, DDØ, DK-K, HF, BGN); Unit of Medical Genetics, Department of Preventive and Predictive Medicine (SMa), Unit of Genetic Susceptibility to Cancer, Department of Experimental Oncology and Molecular Medicine (PR), Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy; Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Milan, Italy (MBa); Channing Laboratory, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA (SEH, DJH, RT); Department of Epidemiology, Harvard School of Public Health, Boston, MA (SEH, DJH, RT); Molecular Epidemiology Unit, National Cancer Institute, Ratchathewi, Bangkok, Thailand (SS); International Agency for Research on Cancer, Lyon, France (PB, JM, FO, VG); Department of Human Genetics (PD), Department of Pathology (PD), Department of Clinical Genetics (PEAH), Department of Surgical Oncology (RAEMT), Leiden University Medical Center, Leiden, the Netherlands; Department of Medical Oncology, Rotterdam Family Cancer Clinic, Erasmus MC-Daniel den Hoed Cancer Center, Rotterdam, the Netherlands (CS); The Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Victoria, Australia (FH, HT, LDS, MCS).
Source
J Natl Cancer Inst. 2010 Dec 29;
Date
Dec-29-2010
Language
English
Publication Type
Article
Abstract
Background Previous studies have suggested that breast cancer risk factors are associated with estrogen receptor (ER) and progesterone receptor (PR) expression status of the tumors. Methods We pooled tumor marker and epidemiological risk factor data from 35?568 invasive breast cancer case patients from 34 studies participating in the Breast Cancer Association Consortium. Logistic regression models were used in case-case analyses to estimate associations between epidemiological risk factors and tumor subtypes, and case-control analyses to estimate associations between epidemiological risk factors and the risk of developing specific tumor subtypes in 12 population-based studies. All statistical tests were two-sided. Results In case-case analyses, of the epidemiological risk factors examined, early age at menarche (=12 years) was less frequent in case patients with PR(-) than PR(+) tumors (P = .001). Nulliparity (P = 3 × 10(-6)) and increasing age at first birth (P = 2 × 10(-9)) were less frequent in ER(-) than in ER(+) tumors. Obesity (body mass index [BMI] = 30 kg/m(2)) in younger women (=50 years) was more frequent in ER(-)/PR(-) than in ER(+)/PR(+) tumors (P = 1 × 10(-7)), whereas obesity in older women (>50 years) was less frequent in PR(-) than in PR(+) tumors (P = 6 × 10(-4)). The triple-negative (ER(-)/PR(-)/HER2(-)) or core basal phenotype (CBP; triple-negative and cytokeratins [CK]5/6(+) and/or epidermal growth factor receptor [EGFR](+)) accounted for much of the heterogeneity in parity-related variables and BMI in younger women. Case-control analyses showed that nulliparity, increasing age at first birth, and obesity in younger women showed the expected associations with the risk of ER(+) or PR(+) tumors but not triple-negative (nulliparity vs parity, odds ratio [OR] = 0.94, 95% confidence interval [CI] = 0.75 to 1.19, P = .61; 5-year increase in age at first full-term birth, OR = 0.95, 95% CI = 0.86 to 1.05, P = .34; obesity in younger women, OR = 1.36, 95% CI = 0.95 to 1.94, P = .09) or CBP tumors. Conclusions This study shows that reproductive factors and BMI are most clearly associated with hormone receptor-positive tumors and suggest that triple-negative or CBP tumors may have distinct etiology.
PubMed ID
21191117 View in PubMed
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Double heterozygotes among breast cancer patients analyzed for BRCA1, CHEK2, ATM, NBN/NBS1, and BLM germ-line mutations.

https://arctichealth.org/en/permalink/ahliterature267839
Source
Breast Cancer Res Treat. 2014 Jun;145(2):553-62
Publication Type
Article
Date
Jun-2014
Author
Anna P Sokolenko
Natalia Bogdanova
Wojciech Kluzniak
Elena V Preobrazhenskaya
Ekatherina S Kuligina
Aglaya G Iyevleva
Svetlana N Aleksakhina
Natalia V Mitiushkina
Tatiana V Gorodnova
Alexandr A Bessonov
Alexandr V Togo
Jan Lubinski
Cezary Cybulski
Anna Jakubowska
Thilo Dörk
Evgeny N Imyanitov
Source
Breast Cancer Res Treat. 2014 Jun;145(2):553-62
Date
Jun-2014
Language
English
Publication Type
Article
Keywords
Adult
Ataxia Telangiectasia Mutated Proteins - genetics
BRCA1 Protein - genetics
Breast Neoplasms - genetics
Case-Control Studies
Cell Cycle Proteins - genetics
Checkpoint Kinase 2 - genetics
Female
Founder Effect
Genetic Predisposition to Disease
Germ-Line Mutation
Heterozygote
Humans
Loss of Heterozygosity
Middle Aged
Nuclear Proteins - genetics
Poland
RecQ Helicases - genetics
Republic of Belarus
Russia
Abstract
17 double heterozygous (DH) breast cancer (BC) patients were identified upon the analysis of 5,391 affected women for recurrent Slavic mutations in BRCA1, CHEK2, NBN/NBS1, ATM, and BLM genes. Double heterozygosity was found for BRCA1 and BLM (4 patients), BRCA1 and CHEK2 (4 patients), CHEK2 and NBS1 (3 patients), BRCA1 and ATM (2 patients), CHEK2 and BLM (2 patients), CHEK2 and ATM (1 patient), and NBS1 and BLM (1 patient). DH BC patients were on average not younger than single mutation carriers and did not have an excess of bilateral BC; an additional non-breast tumor was documented in two BRCA1/BLM DH patients (ovarian cancer and lymphoplasmacytic lymphoma). Loss-of-heterozygosity (LOH) analysis of involved genes was performed in 5 tumors, and revealed a single instance of somatic loss of the wild-type allele (LOH at CHEK2 locus in BRCA1/CHEK2 double heterozygote). Distribution of mutations in patients and controls favors the hypothesis on multiplicative interaction between at least some of the analyzed genes. Other studies on double heterozygosity for BC-predisposing germ-line mutations are reviewed.
PubMed ID
24800916 View in PubMed
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The HOXB13 p.Gly84Glu mutation is not associated with the risk of breast cancer.

https://arctichealth.org/en/permalink/ahliterature119463
Source
Breast Cancer Res Treat. 2012 Dec;136(3):907-9
Publication Type
Article
Date
Dec-2012
Author
Mohammad R Akbari
Wojciech Kluzniak
Rachelle Rodin
Song Li
Dominika Wokolorczyk
Robert Royer
Aniruddh Kashyap
Janusz Menkiszak
Jan Lubinski
Steven A Narod
Cezary Cybulski
Author Affiliation
Women's College Research Institute, Women's College Hospital, University of Toronto, Toronto, Canada.
Source
Breast Cancer Res Treat. 2012 Dec;136(3):907-9
Date
Dec-2012
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Aged, 80 and over
Breast Neoplasms - genetics
Canada
Case-Control Studies
Female
Genetic Predisposition to Disease
Heterozygote
Homeodomain Proteins - genetics
Humans
Middle Aged
Mutation
Poland
Young Adult
Abstract
Recently, the HOXB13 gene has been shown to be a susceptibility gene for prostate cancer. HOXB13 is overexpressed in breast cancer tissues and HOXB13 expression in combination with low expression of IL17BR is predictive for a tamoxifen response in ER-positive breast cancers. Based on observations, we hypothesized that the HOXB13 p.Gly84Glu mutation might be associated with breast cancer risk. We genotyped this mutation in the germline DNA of 4,037 women with breast cancer (including 1,082 familial cases) and in 2,762 controls from Canada and Poland. Seven heterozygous carriers of the HOXB13 p.Gly84Glu mutation were found in the cases (0.17 %) compared to four carriers among the controls (0.14 %; OR = 1.2, 95 % CI = 0.34-4.1, p = 1.0). Only one of the seven carriers had a family history of breast cancer. This study does not support the hypothesis that women who carry the HOXB13 Gly84Glu mutation are at increased risk of breast cancer.
Notes
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PubMed ID
23099437 View in PubMed
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International rates of breast reconstruction after prophylactic mastectomy in BRCA1 and BRCA2 mutation carriers.

https://arctichealth.org/en/permalink/ahliterature113317
Source
Ann Surg Oncol. 2013 Nov;20(12):3817-22
Publication Type
Article
Date
Nov-2013
Author
John Semple
Kelly A Metcalfe
Henry T Lynch
Charmaine Kim-Sing
Leigha Senter
Tuya Pal
Peter Ainsworth
Jan Lubinski
Nadine Tung
Charis Eng
Donna Gilchrist
Joanne Blum
Susan L Neuhausen
Christian F Singer
Parviz Ghadirian
Ping Sun
Steven A Narod
Author Affiliation
Women's College Research Institute, Toronto, ON, Canada.
Source
Ann Surg Oncol. 2013 Nov;20(12):3817-22
Date
Nov-2013
Language
English
Publication Type
Article
Keywords
Adult
Age Factors
Aged
BRCA1 Protein - genetics
BRCA2 Protein - genetics
Breast Neoplasms - genetics - pathology - surgery
Canada
Female
Follow-Up Studies
Heterozygote
Humans
International Agencies
Mammaplasty - statistics & numerical data
Mastectomy
Middle Aged
Mutation - genetics
Neoplasm Staging
Prognosis
Young Adult
Abstract
Breast reconstruction is an option for women with BRCA1 or BRCA2 mutations who elect to undergo prophylactic mastectomy to prevent breast cancer. We report on the uptake of breast reconstruction after prophylactic mastectomy in women with BRCA mutations from eight countries.
Women with a BRCA1 or BRCA2 mutation were questioned regarding their cancer preventive practices. Information was recorded on prophylactic mastectomy and breast reconstruction.
A total of 1,635 women with a BRCA1 or BRCA2 mutation who elected to undergo prophylactic mastectomy from eight countries were included. A total of 1,137 women (69.5%) had breast reconstruction after prophylactic mastectomy. A total of 58.7% of women over the age of 45 years at the time of prophylactic mastectomy had breast reconstruction compared to 77.6% of women 35 years of age or younger [odds ratio (OR) 0.36, 95% confidence interval (CI) 0.26-0.50, p
PubMed ID
23740344 View in PubMed
Less detail

International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers.

https://arctichealth.org/en/permalink/ahliterature159330
Source
Int J Cancer. 2008 May 1;122(9):2017-22
Publication Type
Article
Date
May-1-2008
Author
Kelly A Metcalfe
Daphna Birenbaum-Carmeli
Jan Lubinski
Jacek Gronwald
Henry Lynch
Pal Moller
Parviz Ghadirian
William D Foulkes
Jan Klijn
Eitan Friedman
Charmaine Kim-Sing
Peter Ainsworth
Barry Rosen
Susan Domchek
Teresa Wagner
Nadine Tung
Siranoush Manoukian
Fergus Couch
Ping Sun
Steven A Narod
Author Affiliation
Lawrence S. Bloomberg Faculty of Nursing, University of Toronto, Toronto, ON, Canada.
Source
Int J Cancer. 2008 May 1;122(9):2017-22
Date
May-1-2008
Language
English
Publication Type
Article
Keywords
Adult
Aged
Antineoplastic Agents, Hormonal - therapeutic use
Breast Neoplasms - genetics - prevention & control
Canada - epidemiology
Chi-Square Distribution
Estrogen Receptor Modulators - therapeutic use
Europe - epidemiology
Female
Genes, BRCA1
Genes, BRCA2
Genetic Variation
Heterozygote
Humans
Mass Screening
Mastectomy - statistics & numerical data
Middle Aged
Mutation
Ovariectomy - statistics & numerical data
Population Surveillance
Primary prevention - methods
Questionnaires
Raloxifene - therapeutic use
Research Design
Tamoxifen - therapeutic use
Abstract
Several options for cancer prevention are available for women with a BRCA1 or BRCA2 mutation, including prophylactic surgery, chemoprevention and screening. The authors report on preventive practices in women with mutations from 9 countries and examine differences in uptake according to country. Women with a BRCA1 or BRCA2 mutation were contacted after receiving their genetic test result and were questioned regarding their preventive practices. Information was recorded on prophylactic mastectomy, prophylactic oophorectomy, use of tamoxifen and screening (MRI and mammography). Two thousand six hundred seventy-seven women with a BRCA1 or BRCA2 mutation from 9 countries were included. The follow-up questionnaire was completed a mean of 3.9 years (range 1.5-10.3 years) after genetic testing. One thousand five hundred thirty-one women (57.2%) had a bilateral prophylactic oophorectomy. Of the 1,383 women without breast cancer, 248 (18.0%) had had a prophylactic bilateral mastectomy. Among those who did not have a prophylactic mastectomy, only 76 women (5.5%) took tamoxifen and 40 women (2.9%) took raloxifene for breast cancer prevention. Approximately one-half of the women at risk for breast cancer had taken no preventive option, relying solely on screening. There were large differences in the uptake of the different preventive options by country of residence. Prophylactic oophorectomy is now generally accepted by women and their physicians as a cancer preventive measure. However, only the minority of women with a BRCA1 or BRCA2 mutation opt for prophylactic mastectomy or take tamoxifen for the prevention of hereditary breast cancer. Approximately one-half of women at risk for breast cancer rely on screening alone.
Notes
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PubMed ID
18196574 View in PubMed
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Lactase persistence and ovarian carcinoma risk in Finland, Poland and Sweden.

https://arctichealth.org/en/permalink/ahliterature17034
Source
Int J Cancer. 2005 Oct 20;117(1):90-4
Publication Type
Article
Date
Oct-20-2005
Author
Mikko Kuokkanen
Ralf Butzow
Heli Rasinperä
Krzysztof Medrek
Mef Nilbert
Susanne Malander
Jan Lubinski
Irma Järvelä
Author Affiliation
National Public Health Institute, Department of Molecular Medicine, Helsinki, Finland. mikko.kuokkanen@ktl.fi
Source
Int J Cancer. 2005 Oct 20;117(1):90-4
Date
Oct-20-2005
Language
English
Publication Type
Article
Keywords
Adenocarcinoma, Mucinous - enzymology - epidemiology - genetics
Adult
Aged
Aged, 80 and over
Carcinoma, Endometrioid - enzymology - epidemiology - genetics
Cohort Studies
Comparative Study
Cystadenocarcinoma, Serous - enzymology - epidemiology - genetics
Female
Finland - epidemiology
Genetic Predisposition to Disease
Genotype
Humans
Lactase - deficiency - genetics - metabolism
Middle Aged
Neoplasm Staging
Neoplasms, Glandular and Epithelial - enzymology - epidemiology - genetics
Ovarian Neoplasms - enzymology - epidemiology - genetics
Poland - epidemiology
Polymerase Chain Reaction
Research Support, Non-U.S. Gov't
Risk factors
Sweden - epidemiology
Abstract
Ovarian carcinoma is the fourth most common cause of cancer death in women. The cause and pathogenesis of this disease has remained obscure. Galactose, the hydrolyzing product of the milk sugar lactose, has been hypothesized to be toxic to ovarian epithelial cells and consumption of dairy products and lactase persistence has been suggested to be a risk factor for ovarian carcinoma. In adults, downregulation of lactase depends on a variant C/T-13910 at the 5' end of the lactase gene. To explore whether lactase persistence is related to the risk of ovarian carcinoma we determined the C/T-13910 genotype in a cohort of 782 women with ovarian carcinoma. The C/T-13910 genotype was defined by solid phase minisequencing from 327 Finnish, 303 Polish, 152 Swedish patients and 938 Finnish, 296 Polish and 97 Swedish healthy individuals served as controls. Lactase persistence did not associate significantly with increased risk for ovarian carcinoma in the Finnish (odds ratio [OR]=0.77, 95% confidence interval [CI]=0.57-1.05, p=0.097), in the Polish (OR=0.95, 95% CI=0.68-1.33, p=0.75), or in the Swedish populations (OR=1.63, 95% CI=0.65-4.08, p=0.29). Our results do not support the hypothesis that lactase persistence increases the ovarian carcinoma risk. On the contrary, lactase persistence may decrease the ovarian carcinoma risk at least in the Finnish population.
PubMed ID
15880573 View in PubMed
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On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations.

https://arctichealth.org/en/permalink/ahliterature99961
Source
Eur J Hum Genet. 2010 Dec 1;
Publication Type
Article
Date
Dec-1-2010
Author
Nancy Hamel
Bing-Jian Feng
Lenka Foretova
Dominique Stoppa-Lyonnet
Steven A Narod
Evgeny Imyanitov
Olga Sinilnikova
Laima Tihomirova
Jan Lubinski
Jacek Gronwald
Bohdan Gorski
Thomas V O Hansen
Finn C Nielsen
Mads Thomassen
Drakoulis Yannoukakos
Irene Konstantopoulou
Vladimir Zajac
Sona Ciernikova
Fergus J Couch
Celia M T Greenwood
David E Goldgar
William D Foulkes
Author Affiliation
[1] Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada [2] Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.
Source
Eur J Hum Genet. 2010 Dec 1;
Date
Dec-1-2010
Language
English
Publication Type
Article
Abstract
The BRCA1 mutation c.5266dupC was originally described as a founder mutation in the Ashkenazi Jewish (AJ) population. However, this mutation is also present at appreciable frequency in several European countries, which raises intriguing questions about the origins of the mutation. We genotyped 245 carrier families from 14 different population groups (Russian, Latvian, Ukrainian, Czech, Slovak, Polish, Danish, Dutch, French, German, Italian, Greek, Brazilian and AJ) for seven microsatellite markers and confirmed that all mutation carriers share a common haplotype from a single founder individual. Using a maximum likelihood method that allows for both recombination and mutational events of marker loci, we estimated that the mutation arose some 1800 years ago in either Scandinavia or what is now northern Russia and subsequently spread to the various populations we genotyped during the following centuries, including the AJ population. Age estimates and the molecular evolution profile of the most common linked haplotype in the carrier populations studied further suggest that c.5266dupC likely entered the AJ gene pool in Poland approximately 400-500 years ago. Our results illustrate that (1) BRCA1 c.5266dupC originated from a single common ancestor and was a common European mutation long before becoming an AJ founder mutation and (2) the mutation is likely present in many additional European countries where genetic screening of BRCA1 may not yet be common practice.European Journal of Human Genetics advance online publication, 1 December 2010; doi:10.1038/ejhg.2010.203.
PubMed ID
21119707 View in PubMed
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Source
PLoS One. 2016;11(5):e0153788
Publication Type
Article
Date
2016
Author
Liisa M Pelttari
Sofia Khan
Mikko Vuorela
Johanna I Kiiski
Sara Vilske
Viivi Nevanlinna
Salla Ranta
Johanna Schleutker
Robert Winqvist
Anne Kallioniemi
Thilo Dörk
Natalia V Bogdanova
Jonine Figueroa
Paul D P Pharoah
Marjanka K Schmidt
Alison M Dunning
Montserrat García-Closas
Manjeet K Bolla
Joe Dennis
Kyriaki Michailidou
Qin Wang
John L Hopper
Melissa C Southey
Efraim H Rosenberg
Peter A Fasching
Matthias W Beckmann
Julian Peto
Isabel Dos-Santos-Silva
Elinor J Sawyer
Ian Tomlinson
Barbara Burwinkel
Harald Surowy
Pascal Guénel
Thérèse Truong
Stig E Bojesen
Børge G Nordestgaard
Javier Benitez
Anna González-Neira
Susan L Neuhausen
Hoda Anton-Culver
Hermann Brenner
Volker Arndt
Alfons Meindl
Rita K Schmutzler
Hiltrud Brauch
Thomas Brüning
Annika Lindblom
Sara Margolin
Arto Mannermaa
Jaana M Hartikainen
Georgia Chenevix-Trench
Laurien Van Dyck
Hilde Janssen
Jenny Chang-Claude
Anja Rudolph
Paolo Radice
Paolo Peterlongo
Emily Hallberg
Janet E Olson
Graham G Giles
Roger L Milne
Christopher A Haiman
Fredrick Schumacher
Jacques Simard
Martine Dumont
Vessela Kristensen
Anne-Lise Borresen-Dale
Wei Zheng
Alicia Beeghly-Fadiel
Mervi Grip
Irene L Andrulis
Gord Glendon
Peter Devilee
Caroline Seynaeve
Maartje J Hooning
Margriet Collée
Angela Cox
Simon S Cross
Mitul Shah
Robert N Luben
Ute Hamann
Diana Torres
Anna Jakubowska
Jan Lubinski
Fergus J Couch
Drakoulis Yannoukakos
Nick Orr
Anthony Swerdlow
Hatef Darabi
Jingmei Li
Kamila Czene
Per Hall
Douglas F Easton
Johanna Mattson
Carl Blomqvist
Kristiina Aittomäki
Heli Nevanlinna
Source
PLoS One. 2016;11(5):e0153788
Date
2016
Language
English
Publication Type
Article
Keywords
Breast Neoplasms - etiology - genetics
DNA-Binding Proteins - genetics - physiology
Female
Finland
Genetic Predisposition to Disease - genetics
Genotyping Techniques
Haplotypes - genetics
Heterozygote
Humans
Male
Middle Aged
Mutation, Missense
Polymorphism, Single Nucleotide - genetics
Abstract
Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of RAD51B variants in breast cancer predisposition, particularly in the context of familial breast cancer in Finland. We sequenced the coding region of RAD51B in 168 Finnish breast cancer patients from the Helsinki region for identification of possible recurrent founder mutations. In addition, we studied the known rs999737, rs2588809, and rs1314913 SNPs and RAD51B haplotypes in 44,791 breast cancer cases and 43,583 controls from 40 studies participating in the Breast Cancer Association Consortium (BCAC) that were genotyped on a custom chip (iCOGS). We identified one putatively pathogenic missense mutation c.541C>T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259) and population controls (n = 3586) from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR): 1.15, 95% confidence interval (CI): 1.11-1.19, P = 8.88 x 10-16) and among familial cases (OR: 1.24, 95% CI: 1.16-1.32, P = 6.19 x 10-11), compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in RAD51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk.
Notes
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PubMed ID
27149063 View in PubMed
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