PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1

Xiang Jiao¹, Christos Aravidis^{1

2}, Rajeshwari Marikkannu¹, Johanna Rantala¹, Simone Picelli¹, Tatjana Adamovic¹, Tao Liu¹, Paula Maguire¹, Barbara Kremeyer¹, Liping Luo¹, Susanna von Holst¹, Vinaykumar Kontham¹, Jessada Thutkawkorapin¹, Sara Margolin³, Quan Du¹, Johanna Lundin¹, Kyriaki Michailidou^{4

5}, Manjeet K Bolla⁴, Qin Wang⁴, Joe Dennis⁴, Michael Lush⁴, Christine B Ambrosone⁶, Irene L Andrulis^{7

8}, Hoda Anton-Culver⁹, Natalia N Antonenkova¹⁰, Volker Arndt¹¹, Matthias W Beckmann¹², Carl Blomqvist¹³, William Blot^{14

15}, Bram Boeckx^{16

17}, Stig E Bojesen^{18

19

20}, Bernardo Bonanni²¹, Judith S Brand²², Hiltrud Brauch^{23

24

25}, Hermann Brenner^{11

25

26}, Annegien Broeks²⁷, Thomas Brüning²⁸, Barbara Burwinkel^{29

30}, Qiuyin Cai¹⁴, Jenny Chang-Claude^{31

32}; NBCS Collaborators; Fergus J Couch³³, Angela Cox³⁴, Simon S Cross³⁵, Sandra L Deming-Halverson¹⁴, Peter Devilee^{36

37}, Isabel Dos-Santos-Silva³⁸, Thilo Dörk³⁹, Mikael Eriksson²², Peter A Fasching^{12

40}, Jonine Figueroa^{41

42}, Dieter Flesch-Janys^{43

44}, Henrik Flyger⁴⁵, Marike Gabrielson²², Montserrat García-Closas⁴², Graham G Giles^{46

47}, Anna González-Neira⁴⁸, Pascal Guénel⁴⁹, Qi Guo⁵⁰, Melanie Gündert^{29

30}, Christopher A Haiman⁵¹, Emily Hallberg⁵², Ute Hamann⁵³, Patricia Harrington⁵⁴, Maartje J Hooning⁵⁵, John L Hopper⁴⁷, Guanmengqian Huang⁵³, Anna Jakubowska⁵⁶, Michael E Jones⁵⁷, Michael J Kerin⁵⁸, Veli-Matti Kosma^{59

60

61}, Vessela N Kristensen^{62

63

64}, Diether Lambrechts^{16

17}, Loic Le Marchand⁶⁵, Jan Lubinski⁵⁶, Arto Mannermaa^{59

60

61}, John W M Martens⁵⁵, Alfons Meindl⁶⁶, Roger L Milne^{46

47}, Anna Marie Mulligan^{67

68}, Susan L Neuhausen⁶⁹, Heli Nevanlinna⁷⁰, Julian Peto³⁸, Katri Pylkäs^{71

72}, Paolo Radice⁷³, Valerie Rhenius⁵⁴, Elinor J Sawyer⁷⁴, Marjanka K Schmidt^{27

75}, Rita K Schmutzler^{76

77

78}, Caroline Seynaeve⁵⁵, Mitul Shah⁵⁴, Jacques Simard⁷⁹, Melissa C Southey⁸⁰, Anthony J Swerdlow^{57

81}, Thérèse Truong⁴⁹, Camilla Wendt³, Robert Winqvist^{71

72}, Wei Zheng¹⁴; kConFab/AOCS Investigators; Javier Benitez^{48

82}, Alison M Dunning⁵⁴, Paul D P Pharoah^{4

54}, Douglas F Easton^{4

54}, Kamila Czene²², Per Hall²², Annika Lindblom¹

Affiliations

¹ Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
² Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
³ Department of Oncology - Pathology, Karolinska Institutet, Stockholm, Sweden.
⁴ Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
⁵ Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
⁶ Roswell Park Cancer Institute, Buffalo, NY, USA.
⁷ Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada.
⁸ Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
⁹ Department of Epidemiology, University of California Irvine, Irvine, CA, USA.
¹⁰ N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus.
¹¹ Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
¹² Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
¹³ Department of Oncology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
¹⁴ Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.
¹⁵ International Epidemiology Institute, Rockville, MD, USA.
¹⁶ VIB Center for Cancer Biology, VIB, Leuven, Belgium.
¹⁷ Laboratory for Translational Genetics, Department of Human Genetics, University of Leuven, Leuven, Belgium.
¹⁸ Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
¹⁹ Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
²⁰ Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
²¹ Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy.
²² Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
²³ Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
²⁴ University of Tübingen, Tübingen, Germany.
²⁵ German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.
²⁶ Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany.
²⁷ Division of Molecular Pathology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
²⁸ Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum, Bochum, Germany.
²⁹ Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.
³⁰ Molecular Epidemiology Group, C080, German Cancer Research Center (DKFZ), Heidelberg, Germany.
³¹ Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
³² Research Group Genetic Cancer Epidemiology, University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
³³ Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
³⁴ Sheffield Institute for Nucleic Acids (SInFoNiA), Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.
³⁵ Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK.
³⁶ Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
³⁷ Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
³⁸ Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.
³⁹ Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.
⁴⁰ David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, University of California at Los Angeles, Los Angeles, CA, USA.
⁴¹ Usher Institute of Population Health Sciences and Informatics, The University of Edinburgh Medical School, Edinburgh, UK.
⁴² Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
⁴³ Institute for Medical Biometrics and Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
⁴⁴ Department of Cancer Epidemiology, Clinical Cancer Registry, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
⁴⁵ Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
⁴⁶ Cancer Epidemiology & Intelligence Division, Cancer Council Victoria, Melbourne, Victoria, Australia.
⁴⁷ Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global health, The University of Melbourne, Melbourne, Victoria, Australia.
⁴⁸ Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain.
⁴⁹ Cancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, Villejuif, France.
⁵⁰ Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
⁵¹ Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
⁵² Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
⁵³ Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
⁵⁴ Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
⁵⁵ Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
⁵⁶ Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
⁵⁷ Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
⁵⁸ School of Medicine, National University of Ireland, Galway, Ireland.
⁵⁹ Translational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.
⁶⁰ Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland.
⁶¹ Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland.
⁶² Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, Oslo, Norway.
⁶³ Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
⁶⁴ Department of Clinical Molecular Biology, Oslo University Hospital, University of Oslo, Oslo, Norway.
⁶⁵ Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI, USA.
⁶⁶ Division of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany.
⁶⁷ Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
⁶⁸ Laboratory Medicine Program, University Health Network, Toronto, ON, Canada.
⁶⁹ Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA.
⁷⁰ Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
⁷¹ Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland.
⁷² Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre Oulu, Oulu, Finland.
⁷³ Department of Research, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy.
⁷⁴ Research Oncology, Guy's Hospital, King's College London, London, UK.
⁷⁵ Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.
⁷⁶ Center for Hereditary Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.
⁷⁷ Center for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany.
⁷⁸ Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
⁷⁹ Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, QC, Canada.
⁸⁰ Department of Pathology, The University of Melbourne, Melbourne, Victoria, Australia.
⁸¹ Division of Breast Cancer Research, The Institute of Cancer Research, London, UK.
⁸² Centro de Investigación en Red de Enfermedades Raras (CIBERER), Valencia, Spain.

PMID: 29262523
PMCID: PMC5732689
DOI: 10.18632/oncotarget.21800

PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1

Xiang Jiao et al. Oncotarget. 2017.

. 2017 Oct 12;8(61):102769-102782.

doi: 10.18632/oncotarget.21800. eCollection 2017 Nov 28.

Authors

Affiliations

¹ Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
² Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
³ Department of Oncology - Pathology, Karolinska Institutet, Stockholm, Sweden.
⁴ Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
⁵ Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
⁶ Roswell Park Cancer Institute, Buffalo, NY, USA.
⁷ Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada.
⁸ Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
⁹ Department of Epidemiology, University of California Irvine, Irvine, CA, USA.
¹⁰ N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus.
¹¹ Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
¹² Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
¹³ Department of Oncology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
¹⁴ Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.
¹⁵ International Epidemiology Institute, Rockville, MD, USA.
¹⁶ VIB Center for Cancer Biology, VIB, Leuven, Belgium.
¹⁷ Laboratory for Translational Genetics, Department of Human Genetics, University of Leuven, Leuven, Belgium.
¹⁸ Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
¹⁹ Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
²⁰ Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
²¹ Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy.
²² Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
²³ Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
²⁴ University of Tübingen, Tübingen, Germany.
²⁵ German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.
²⁶ Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany.
²⁷ Division of Molecular Pathology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
²⁸ Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum, Bochum, Germany.
²⁹ Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.
³⁰ Molecular Epidemiology Group, C080, German Cancer Research Center (DKFZ), Heidelberg, Germany.
³¹ Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
³² Research Group Genetic Cancer Epidemiology, University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
³³ Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
³⁴ Sheffield Institute for Nucleic Acids (SInFoNiA), Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.
³⁵ Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK.
³⁶ Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
³⁷ Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
³⁸ Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.
³⁹ Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.
⁴⁰ David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, University of California at Los Angeles, Los Angeles, CA, USA.
⁴¹ Usher Institute of Population Health Sciences and Informatics, The University of Edinburgh Medical School, Edinburgh, UK.
⁴² Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
⁴³ Institute for Medical Biometrics and Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
⁴⁴ Department of Cancer Epidemiology, Clinical Cancer Registry, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
⁴⁵ Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
⁴⁶ Cancer Epidemiology & Intelligence Division, Cancer Council Victoria, Melbourne, Victoria, Australia.
⁴⁷ Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global health, The University of Melbourne, Melbourne, Victoria, Australia.
⁴⁸ Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain.
⁴⁹ Cancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, Villejuif, France.
⁵⁰ Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
⁵¹ Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
⁵² Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
⁵³ Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
⁵⁴ Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
⁵⁵ Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
⁵⁶ Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
⁵⁷ Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
⁵⁸ School of Medicine, National University of Ireland, Galway, Ireland.
⁵⁹ Translational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.
⁶⁰ Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland.
⁶¹ Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland.
⁶² Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, Oslo, Norway.
⁶³ Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
⁶⁴ Department of Clinical Molecular Biology, Oslo University Hospital, University of Oslo, Oslo, Norway.
⁶⁵ Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI, USA.
⁶⁶ Division of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany.
⁶⁷ Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
⁶⁸ Laboratory Medicine Program, University Health Network, Toronto, ON, Canada.
⁶⁹ Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA.
⁷⁰ Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
⁷¹ Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland.
⁷² Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre Oulu, Oulu, Finland.
⁷³ Department of Research, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy.
⁷⁴ Research Oncology, Guy's Hospital, King's College London, London, UK.
⁷⁵ Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.
⁷⁶ Center for Hereditary Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.
⁷⁷ Center for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany.
⁷⁸ Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
⁷⁹ Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, QC, Canada.
⁸⁰ Department of Pathology, The University of Melbourne, Melbourne, Victoria, Australia.
⁸¹ Division of Breast Cancer Research, The Institute of Cancer Research, London, UK.
⁸² Centro de Investigación en Red de Enfermedades Raras (CIBERER), Valencia, Spain.

PMID: 29262523
PMCID: PMC5732689
DOI: 10.18632/oncotarget.21800

Abstract

Most non-BRCA1/2 breast cancer families have no identified genetic cause. We used linkage and haplotype analyses in familial and sporadic breast cancer cases to identify a susceptibility locus on chromosome 6q. Two independent genome-wide linkage analysis studies suggested a 3 Mb locus on chromosome 6q and two unrelated Swedish families with a LOD >2 together seemed to share a haplotype in 6q14.1. We hypothesized that this region harbored a rare high-risk founder allele contributing to breast cancer in these two families. Sequencing of DNA and RNA from the two families did not detect any pathogenic mutations. Finally, 29 SNPs in the region were analyzed in 44,214 cases and 43,532 controls from BCAC, and the original haplotypes in the two families were suggested as low-risk alleles for European and Swedish women specifically. There was also some support for one additional independent moderate-risk allele in Swedish familial samples. The results were consistent with our previous findings in familial breast cancer and supported a breast cancer susceptibility locus at 6q14.1 around the PHIP gene.

Keywords: familial breast cancer; linkage analysis; risk haplotype; sequencing.

PubMed Disclaimer

Conflict of interest statement

CONFLICTS OF INTEREST The authors declare that they have no competing interests.

Figures

**Figure 1. Linkage analysis revealed genomic regions with HLOD score above one in: a) families with moderate risk of breast cancer and b) High risk breast cancer families with other types of cancer**

**Figure 2. Pedigrees of the families 6006 and 6043 showing the haplotypes of selected family members (the families’ risk haplotype is indicated in grey shade)**

See this image and copyright information in PMC

References

1. Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, Koskenvuo M, Pukkala E, Skytthe A, Hemminki K. Environmental and heritable factors in the causation of cancer—analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med. 2000;343:78–85. doi: 10.1056/NEJM200007133430201. - DOI - PubMed
1. Nathanson KL, Wooster R, Weber BL. Breast cancer genetics: what we know and what we need. Nat Med. 2001;7:552–6. doi: 10.1038/87876. - DOI - PubMed
1. Stratton MR, Rahman N. The emerging landscape of breast cancer susceptibility. Nat Genet. 2008;40:17–22. doi: 10.1038/ng.2007.53. - DOI - PubMed
1. Lalloo F, Evans DG. Familial breast cancer. Clin Genet. 2012;82:105–14. doi: 10.1111/j.1399-0004.2012.01859.x. - DOI - PubMed
1. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC. Linkage of early-onset familial breast cancer to chromosome 17q21. Science. 1990;250:1684–9. - PubMed

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PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1

Affiliations

PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources

Molecular Biology Databases

Miscellaneous