Evidence map›Paper›PMID 27836010›Full record

ArticleBreast cancer research : BCR2016

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.

Timothy R Rebbeck, Tara M Friebel, Nandita Mitra, Fei Wan, Stephanie Chen, Irene L Andrulis, Paraskevi Apostolou, Norbert Arnold, Banu K Arun, Daniel Barrowdale and 95 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Breast cancer research : BCR, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
46citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

46 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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  8. Double heterozygosity forBMJ case reports · 2025
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  11. Case Report: Clinical impact ofFrontiers in oncology · 2025
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

105 authors.

Timothy R RebbeckDepartment Epidemiology, Dana Farber Cancer Institute and Harvard T.H. Chan School of Public Health, 1101 Dana Building, 450 Brookline Avenue, Boston, MA, USA. Timothy_Rebbeck@dfci.harvard.edu.
Tara M FriebelDepartment Epidemiology, Dana Farber Cancer Institute and Harvard T.H. Chan School of Public Health, 1101 Dana Building, 450 Brookline Avenue, Boston, MA, USA.
Nandita MitraDepartment of Biostatistics and Epidemiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Fei WanBiostatistics Unit, Group Health Research Institute, Seattle, WA, USA.
Stephanie ChenDepartment of Preventive Medicine, Keck School of Medicine, USC/Norris Comprehensive Cancer Center, University of Southern California, California, USA.
Irene L AndrulisLunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, Ontario, M5G 1X5, Canada.
Paraskevi ApostolouMolecular Diagnostics Laboratory, (INRASTES) Institute of Nuclear and Radiological Sciences and Technology, National Centre for Scientific Research "Demokritos", Patriarchou Gregoriou & Neapoleos str. Aghia Paraskevi Attikis, Athens, Greece.
Norbert ArnoldDepartment of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University, Kiel, Germany.
Banu K ArunDepartment of Breast Medical Oncology and Clinical Cancer Genetics Program, University Of Texas MD Anderson Cancer Center, 1515 Pressler Street, CBP 5, Houston, TX, USA.
Daniel BarrowdaleDepartment of Genetics and Computational Biology, QIMR Berghofer Institute of Medical Research, Brisbane, Australia.
Javier BenitezHuman Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain.
Raanan BergerThe Institute of Oncology, Chaim Sheba Medical Center, Ramat Gan, 52621, Israel.
Pascaline BerthetCentre François Baclesse, 3 avenue Général Harris, Caen, France.
Ake BorgDepartment of Oncology, Clinical Sciences, Lund University and Skåne University Hospital, Lund, Sweden.
Saundra S BuysDepartment of Medicine, Huntsman Cancer Institute, 2000 Circle of Hope, Salt Lake City, UT, 84112, USA.
Trinidad CaldesMolecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Martin Lagos s/n, Madrid, Spain.
Jonathan CarterGynaecological Oncology, The University of Sydney Cancer Centre, Royal Prince Alfred Hospital, Sydney, Australia.
Jocelyne ChiquetteUnité de recherche en santé des populations, Centre des maladies du sein Deschênes-Fabia, Hôpital du Saint-Sacrement, 1050, chemin Sainte-Foy, Québec, Canada.
Kathleen B M ClaesCenter for Medical Genetics, Ghent University, De Pintelaan 185, 9000, Gent, Belgium.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, and Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, USA.
Cezary CybulskiDepartment of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland.
Mary B DalyDivision of Population Science, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA, 19111, USA.
Miguel de la HoyaMolecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Martin Lagos s/n, Madrid, Spain.
Orland DiezOncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Clinical and Molecular Genetics Area, Vall d'Hebron University Hospital, Passeig Vall d'Hebron 119-129, Barcelona, Spain.
Susan M DomchekDepartment of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Katherine L NathansonDepartment of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Katarzyna DurdaDepartment of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland.
Steve EllisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK.
EMBRACE
D Gareth EvansGenomic Medicine, Manchester Academic Health Sciences Centre, Institute of Human Development, Manchester University, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Lenka ForetovaDepartment of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Zluty kopec 7, Brno, 65653, Czech Republic.
Eitan FriedmanThe Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan, 52621, Israel.
Debra FrostCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK.
Patricia A GanzUCLA Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research Jonsson Comprehensive Cancer Center, 650 Charles Young Drive South, Room A2-125 HS, Los Angeles, CA, 90095-6900, USA.
Judy GarberDepartment Epidemiology, Dana Farber Cancer Institute and Harvard T.H. Chan School of Public Health, 1101 Dana Building, 450 Brookline Avenue, Boston, MA, USA.
Gord GlendonOntario Cancer Genetics Network: Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, M5G 1X5, Canada.
Andrew K GodwinDepartment of Pathology and Laboratory Medicine, 3901 Rainbow Boulevard, 4019 Wahl Hall East, MS, 3040, Kansas, USA.
Mark H GreeneClinical Genetics Branch, DCEG, NCI, NIH, 9609 Medical Center Drive, Room 6E-454, Bethesda, MD, USA.
Jacek GronwaldDepartment of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland.
Eric HahnenCenter for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO) and Center for Molecular Medicine Cologne (CMMC), Medical Faculty, University of Cologne and University Hospital Cologne, Cologne, Germany.
Emily HallbergDepartment of Health Sciences Research, Mayo Clinic, 13400 E. Scottsdale Blvd., Scottsdale, AZ, USA.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120, Heidelberg, Germany.
Thomas V O HansenCenter for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, DK-2100, Copenhagen, Denmark.
HEBON
Evgeny N ImyanitovN.N. Petrov Institute of Oncology, St.-Petersburg, 197758, Russia.
Claudine IsaacsLombardi Comprehensive Cancer Center, Georgetown University, 3800 Reservoir Road NW, Washington, DC, USA.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland.
Ramunas JanaviciusDepartment of Molecular and Regenerative Medicine, Vilnius University Hospital Santariskiu Clinics, Hematology, oncology and transfusion medicine center, Santariskiu st, Vilnius, Lithuania.
Katarzyna Jaworska-BieniekDepartment of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland.
Esther M JohnDepartment of Epidemiology, Cancer Prevention Institute of California, 2201 Walnut Avenue, Suite 300, Fremont, CA, 94538, USA.
Beth Y KarlanWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Suite 290W, Los Angeles, CA, USA.
Bella KaufmanThe Institute of Oncology, Chaim Sheba Medical Center, Ramat Gan, 52621, Israel.
KConFab InvestigatorsKathleen Cuningham Consortium for Research into Familial Breast Cancer, Peter MacCallum Cancer Center, Melbourne, Australia.
Ava KwongThe Hong Kong Hereditary Breast Cancer Family Registry; Cancer Genetics Center, Hong Kong Sanatorium and Hospital, Hong Kong, Hong Kong.
Yael LaitmanThe Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan, 52621, Israel.
Christine LassetUnité de Prévention et d'Epidémiologie Génétique, Centre Léon Bérard, 28 rue Laënnec, Lyon, France.
Conxi LazaroMolecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute) Catalan Institute of Oncology, Gran Via de l'Hospitalet, 199-203, 08908, L'Hospitalet Barcelona, Barcelona, Spain.
Jenny LesterWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Suite 290W, Los Angeles, CA, USA.
Niklas LomanDepartment of Oncology, Lund University Hospital, Lund, Sweden.
Jan LubinskiDepartment of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland.
Siranoush ManoukianUnit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133, Milan, Italy.
Gillian MitchellFamilial Cancer Centre, Peter MacCallum Cancer Centre, Locked Bag 1, A'Beckett Street, Melbourne, VIC, 8006, Australia.
Marco MontagnaImmunology and Molecular Oncology Unit, Veneto Institute of Oncology IOC - IRCCS, Via Gattamelata 64, Padua, Italy.
Susan L NeuhausenDepartment of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA.
Heli NevanlinnaDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki, P.O. BOX 700, (Haartmaninkatu 8), 00029, HUS, Helsinki, Finland.
Dieter NiederacherDepartment of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany.
Robert L Nussbaum, 513 Parnassus Ave., HSE 901E, San Francisco, CA, 94143-0794, USA.
Kenneth OffitClinical Genetics Research Laboratory, Department of Medicine, Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY, 10044, USA.
Edith OlahDepartment of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.
Olufunmilayo I Olopade, 5841 South Maryland Avenue, MC 2115, Chicago, IL, USA.
Sue Kyung ParkDepartment of Preventive Medicine, Seoul National University College of Medicine, 103 Daehak-ro, Jongno-gu, Seoul, 110-799, Korea.
Marion PiedmonteNRG Oncology, Statistics and Data Management Center, Roswell Park Cancer Institute, Elm St & Carlton St, Buffalo, NY, 14263, USA.
Paolo RadiceUnit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predicted Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), c/o Amaedeolab, via GA Amadeo 42, 20133, Milan, Italy.
Christine Rappaport-FuerhauserDepartment of OB/GYN, Medical University of Vienna, Waehringer Guertel 18-20, A 1090, Vienna, Austria.
Matti A RookusDepartment of Epidemiology, Netherlands Cancer Institute, P.O. Box 90203, 1000, BE, Amsterdam, The Netherlands.
Caroline SeynaeveDepartment of Medical Oncology, Family Cancer Clinic Erasmus University Medical Center Cancer institute, P.O. Box 5201, 3008, AE, Rotterdam, The Netherlands.
Jacques SimardGenomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec City, Quebec, Canada.
Christian F SingerDepartment of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Waehringer Guertel 18-20, A 1090, Vienna, Austria.
Penny SoucyGenomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec City, Quebec, Canada.
Melissa SoutheyGenetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, Victoria, Australia.
Dominique Stoppa-LyonnetService de Génétique Oncologique, Institut Curie, 26, rue d'Ulm, Paris, Cedex 05, France.
Grzegorz SukiennickiDepartment of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland.
Csilla I SzaboNational Human Genome Research Institute, National Institutes of Health Building 50, Room 5312, 50 South Drive, MSC 004, Bethesda, MD, 20892-8004, USA.
Mariella TancrediSection of Genetic Oncology, Department of Laboratory Medicine, University and University Hospital of Pisa, Pisa, Italy.
Manuel R TeixeiraDepartment of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, 4200-072, Porto, Portugal.
Soo-Hwang TeoCancer Research Initiatives Foundation, Sime Darby Medical Centre, 1 Jalan SS12/1A, Subang Jaya, 47500, Malaysia.
Mary Beth TerryDepartment of Epidemiology, Columbia University, New York, NY, USA.
Mads ThomassenDepartment of Clinical Genetics, Odense University Hospital, Sonder Boulevard 29, Odense C, Denmark.
Laima TihomirovaLatvian Biomedical Research and Study Centre, Ratsupites str 1, Riga, Latvia.
Marc TischkowitzProgram in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, Quebec, Canada.
Amanda Ewart TolandDivison of Human Cancer Genetics, Departments of Internal Medicine and Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, 998 Biomedical Research Tower, Columbus, OH, USA.
Aleksandra Toloczko-GrabarekDepartment of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland.
Nadine TungDepartment of Medical Oncology, Beth Israel Deaconess Medical Center, 330 Brookline Avenue, Boston, MA, 02215, USA.
Elizabeth J van RensburgCancer Genetics Laboratory, Department of Genetics, University of Pretoria, Private Bag X323, Arcadia, 0007, South Africa.
Danylo VillanoClinical Cancer Genetics Laboratory, Memorial Sloane Kettering Cancer Center, New York, NY, USA.
Shan Wang-GohrkeDepartment of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany.
Barbara WappenschmidtCenter for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO) and Center for Molecular Medicine Cologne (CMMC), Medical Faculty, University of Cologne and University Hospital Cologne, Cologne, Germany.
Jeffrey N WeitzelClinical Cancer Genetics, City of Hope, 1500 East Duarte Road, Duarte, California, 91010, USA.
Jamal ZidanInstitute of Oncology, Rivka Ziv Medical Center, 13000, Zefat, Israel.
Kristin K Zorn, 4301 West Markham Street, Slot 793, Little Rock, AR, 72205, USA.
Lesley McGuffogCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Douglas EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Georgia Chenevix-TrenchDepartment of Genetics and Computational Biology, QIMR Berghofer Institute of Medical Research, Brisbane, Australia.
Antonis C AntoniouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Susan J RamusDepartment of Preventive Medicine, Keck School of Medicine, USC/Norris Comprehensive Cancer Center, University of Southern California, California, USA.

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
NRG Oncology Network Group Operations Center - GY9 BIQSFP Reports/BudgetsU10CA180868 · NCI · NRG ONCOLOGY FOUNDATION, INC. · PI NORMAN WOLMARK · 2014 to 2026
$206.8M
Women's Cancer ProgramP30CA015083 · NCI · MAYO CLINIC ROCHESTER · PI Felicity Enders · 1985 to 2026
$151.3M
Statistics CoreU10CA180822 · NCI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI James J. Dignam, GREG YOTHERS · 2014 to 2026
$146.4M
NRG Oncology NCORP Research Base-BIQSFPUG1CA189867 · NCI · NRG ONCOLOGY FOUNDATION, INC. · PI Deborah Watkins Bruner, Lisa A. Kachnic · 2014 to 2026
$140.5M
WORD PROCESSING CENTER--COREP30CA006927 · NCI · RESEARCH INST OF FOX CHASE CAN CTR · PI Margaret von Mehren · 1985 to 2026
$138.8M
Clinical Genetic Studies of Familial and Hereditary Cancer SyndromesZIACP010144 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI SAVAGE, SHARON A. · 2009 to 2025
$111.8M
The Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI PETER C LUCAS · 2005 to 2026
$49.9M
Transgenic & Gene-Targeting Shared ResourceP30CA168524 · NCI · UNIVERSITY OF KANSAS MEDICAL CENTER · PI NICOLE L NOLLEN · 2012 to 2026
$40.1M
Therapeutic Micro RNA Strategies for Ovarian CancerP50CA083638 · NCI · RESEARCH INST OF FOX CHASE CAN CTR · PI GODWIN, ANDREW K., GOLEMIS, ERICA A. · 1999 to 2013
$33.6M
Breast Cancer Family Registry CohortUM1CA164920 · NCI · CANCER PREVENTION INSTIT OF CALIFORNIA · PI ANDRULIS, IRENE, BUYS, SAUNDRA S · 2012 to 2017
$12.7M
Epidemiologic StudiesU19CA148065 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI AHSAN, HABIBUL, BRUGGE, JOAN SIEFERT · 2010 to 2014
$10.6M
Cancer Research UK 11174Cancer Research UK 20861Cancer Research UK C12292/A20861Cancer Research UK C1281/A12014Cancer Research UK C1287/A10118Cancer Research UK C1287/A 10710Cancer Research UK C1287/A11990Cancer Research UK C5047/A10692Cancer Research UK C5047/A15007Cancer Research UK C5047/A8384Cancer Research UK C5047/A8385Cancer Research UK C8197/A16565NCI NIH HHS P30 CA006927NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA015083NCI NIH HHS P30 CA168524NCI NIH HHS P50 CA083638NCI NIH HHS P50 CA116201NCI NIH HHS R01 CA083855NCI NIH HHS R01 CA102776NCI NIH HHS R01 CA112520NCI NIH HHS R01 CA128978NCI NIH HHS R01 CA140323NCI NIH HHS R01 CA142996NCI NIH HHS R01 CA176785NCI NIH HHS U01 CA113916NCI NIH HHS U01 CA116167NCI NIH HHS U01 CA161032NCI NIH HHS U10 CA180822NCI NIH HHS U10 CA180868NCI NIH HHS U19 CA148065NCI NIH HHS U19 CA148112NCI NIH HHS U19 CA148537NCI NIH HHS UG1 CA189867NCI NIH HHS UM1 CA164920
6 · The paper itself

Abstract

backgroundMost BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood.

methodsFrom 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). "Cases" were defined as TH, and "controls" were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 "controls" carried a BRCA1 mutation found in the TH "case". Matched SH2 "controls" carried a BRCA2 mutation found in the TH "case". After matching the TH carriers with SH1 or SH2, 91 TH were matched to 9316 SH1, and 89 TH were matched to 3370 SH2.

resultsThe majority of TH (45.2 %) involved the three common Jewish mutations. TH were more likely than SH1 and SH2 women to have been ever diagnosed with breast cancer (BC; p = 0.002). TH were more likely to be diagnosed with ovarian cancer (OC) than SH2 (p = 0.017), but not SH1. Age at BC diagnosis was the same in TH vs. SH1 (p = 0.231), but was on average 4.5 years younger in TH than in SH2 (p < 0.001). BC in TH was more likely to be estrogen receptor (ER) positive (p = 0.010) or progesterone receptor (PR) positive (p = 0.013) than in SH1, but less likely to be ER positive (p < 0.001) or PR positive (p = 0.012) than SH2. Among 15 tumors from TH patients, there was no clear pattern of loss of heterozygosity (LOH) for BRCA1 or BRCA2 in either BC or OC.

conclusionsOur observations suggest that clinical TH phenotypes resemble SH1. However, TH breast tumor marker characteristics are phenotypically intermediate to SH1 and SH2.

Indexed as

Genes, BRCA1Genes, BRCA2Germ-Line MutationPopulation SurveillanceAllelesBreast NeoplasmsExonsFemaleHeterozygoteHumansLoss of HeterozygosityPhenotypePromoter Regions, GeneticBRCA1BRCA2Hereditary breast and ovarian cancerTransheterozygosity

Identifiers

PMID27836010
PMCPMC5106833

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