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B. Vogelstein, K. Kinzler (2004)
Cancer genes and the pathways they controlNature Medicine, 10
N. Nicolaides, S. Littman, P. Modrich, K. Kinzler, B. Vogelstein (1998)
A Naturally Occurring hPMS2 Mutation Can Confer a Dominant Negative Mutator PhenotypeMolecular and Cellular Biology, 18
M. Vos, B. Hayward, S. Picton, E. Sheridan, D. Bonthron (2004)
Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.American journal of human genetics, 74 5
(1999)
Cancer Risks in BRCA 2 Mutation Carriers The Breast Cancer Linkage Consortium
B. Roa, A. Boyd, K. Volcik, C. Richards (1996)
Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2Nature Genetics, 14
S. Hamilton, Bo Liu, R. Parsons, N. Papadopoulos, J. Jen, S. Powell, A. Krush, T. Berk, Z. Cohen, B. Têtu, P. Burger, P. Wood, Fowzia Taqi, S. Booker, G. Petersen, G. Offerhaus, A. Tersmette, F. Giardiello, B. Vogelstein, K. Kinzler (1995)
The molecular basis of Turcot's syndrome.The New England journal of medicine, 332 13
Deborah Thompson, Silvia Duedal, J. Kirner, L. McGuffog, J. Last, A. Reiman, P. Byrd, Malcolm Taylor, D. Easton (2005)
Cancer risks and mortality in heterozygous ATM mutation carriers.Journal of the National Cancer Institute, 97 11
R. Wooster, G. Bignell, J. Lancaster, S. Swift, S. Seal, J. Mangion, N. Collins, S. Gregory, C. Gumbs, Gos Michlem, R. Barfoot, R. Hamoudi, Sandeep Patel, C. Rice, P. Biggs, Yasmin Hashim, Amanda Smith, F. Connor, A. Arason, J. Gudmundsson, D. Ficenec, D. Kelsell, D. Ford, P. Tonin, D. Bishop, N. Spurr, B. Ponder, R. Eeles, J. Peto, P. Devilee, C. Cornelisse, H. Lynch, S. Narod, G. Lenoir, V. Egilsson, Rosa Barkadottir, D. Easton, D. Bentley, P. Futreal, A. Ashworth, M. Stratton (1996)
Identification of the breast cancer susceptibility gene BRCA2Nature, 379
B. Xia, Qing Sheng, K. Nakanishi, A. Ohashi, Jianmin Wu, N. Christ, Xinggang Liu, M. Jasin, F. Couch, D. Livingston (2006)
Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2.Molecular cell, 22 6
D. Easton, L. McGuffog, D. Thompson, A. Dunning, L. Tee, C. Baynes, C. Healey, P. Pharoah, B. Ponder, S. Seal, R. Barfoot, N. Sodha, R. Eeles, M. Stratton, N. Rahman, J. Peto, A. Spurdle, Xiaoqing Chen, G. Chenevix-Trench, J. Hopper, G. Giles, M. Mccredie, K. Syrjäkoski, K. Holli, O. Kallioniemi, H. Eerola, P. Vahteristo, C. Blomqvist, H. Nevanlinna, V. Kataja, A. Mannermaa, T. Dörk, M. Bremer, P. Devilee, G. Bock, E. Krol-Warmerdam, K. Kroese-Jansema, P. Wijers-Koster, C. Cornelisse, R. Tollenaar, H. Meijers-Heijboer, E. Berns, J. Nagel, J. Foekens, J. Klijn, M. Schutte, Chek Cons (2004)
CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies.American journal of human genetics, 74 6
M. Rosa, Carlo Fasano, L. Panariello, M. Scarano, G. Belli, A. Iannelli, F. Ciciliano, P. Izzo (2000)
Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 geneOncogene, 19
William Foulkes (2007)
A practical guide to human cancer geneticsClinical Medicine, 7
C. Bronner, S. Baker, P. Morrison, G. Warren, Leslie Smith, M. Lescoe, M. Kane, Christine Earabino, J. Lipford, A. Lindblom, P. Tannergård, R. Bollag, A. Godwin, D. Ward, Magnus Nordenskj⊘ld, R. Fishel, R. Kolodner, R. Liskay (1994)
Mutation in the DNA mismatch repair gene homologue hMLH 1 is associated with hereditary non-polyposis colon cancerNature, 368
M. Swift, P. Reitnauer, D. Morrell, C. Chase (1987)
Breast and other cancers in families with ataxia-telangiectasia.The New England journal of medicine, 316 21
J. Plaschke, C. Engel, S. Krüger, E. Holinski-Feder, C. Pagenstecher, E. Mangold, G. Moeslein, K. Schulmann, J. Gebert, M. Doeberitz, J. Rüschoff, M. Loeffler, H. Schackert (2004)
Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 22 22
M. Ahmed, N. Rahman (2006)
ATM and breast cancer susceptibilityOncogene, 25
A. Renwick, Deborah Thompson, S. Seal, P. Kelly, T. Chagtai, Munaza Ahmed, B. North, H. Jayatilake, R. Barfoot, Katarina Spanova, L. McGuffog, D. Evans, D. Eccles, D. Easton, M. Stratton, N. Rahman, The Collaboration (2006)
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility allelesNature Genetics, 38
Sharon Cantor, R. Drapkin, Fan Zhang, Yafang Lin, Juliana Han, S. Pamidi, D. Livingston (2004)
The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations.Proceedings of the National Academy of Sciences of the United States of America, 101 8
T. Taniguchi, M. Tischkowitz, N. Ameziane, S. Hodgson, C. Mathew, H. Joenje, S. Mok, A. D’Andrea (2003)
Disruption of the Fanconi anemia–BRCA pathway in cisplatin-sensitive ovarian tumorsNature Medicine, 9
J. Lubiński, C. Phelan, P. Ghadirian, H. Lynch, J. Garber, B. Weber, N. Tung, D. Horsman, C. Isaacs, Alvaro Monteiro, P. Sun, S. Narod (2004)
Cancer variation associated with the position of the mutation in the BRCA2 geneFamilial Cancer, 3
(2006)
Biallelic mutations in PALB2, which encodes a BRCA2 interacting protein, cause Fanconi anemia subtype FA-N and predispose to childhood cancer
T. Stankovic, Alexa Kidd, A. Sutcliffe, G. McGuire, P. Robinson, P. Weber, T. Bedenham, A. Bradwell, D. Easton, G. Lennox, N. Haites, P. Byrd, A. Taylor (1998)
ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.American journal of human genetics, 62 2
O. Levran, C. Attwooll, R. Henry, K. Milton, K. Neveling, P. Río, S. Batish, R. Kalb, E. Velleuer, S. Barral, J. Ott, J. Petrini, D. Schindler, H. Hanenberg, A. Auerbach (2005)
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemiaNature Genetics, 37
F. Menko, G. Kaspers, G. Meijer, K. Claes, J. Hagen, J. Gille (2004)
A Homozygous MSH6 Mutation in a Child with Café-au-Lait Spots, Oligodendroglioma and Rectal CancerFamilial Cancer, 3
S. Seal, R. Barfoot, H. Jayatilake, Paula Smith, A. Renwick, L. Bascombe, L. McGuffog, D. Evans, D. Eccles, D. Easton, M. Stratton, N. Rahman (2003)
Evaluation of Fanconi Anemia genes in familial breast cancer predisposition.Cancer research, 63 24
Qing Wang, C. Lasset, F. Desseigne, D. Frappaz, C. Bergeron, C. Navarro, E. Ruano, A. Puisieux (1999)
Neurofibromatosis and early onset of cancers in hMLH1-deficient children.Cancer research, 59 2
N. Papadopoulos, N. Nicolaides, Y. Wei, S. Ruben, K. Carter, C. Rosen, W. Haseltine, R. Fleischmann, C. Fraser, Mark Adams, J. Venter, S. Hamilton, G. Petersen, P. Watson, H. Lynch, P. Peltomäki, J. Mecklin, A. Chapelle, K. Kinzler, B. Vogelstein (1994)
Mutation of a mutL homolog in hereditary colon cancer.Science, 263 5153
B. Xia, J. Dorsman, N. Ameziane, Y. Vries, M. Rooimans, Qing Sheng, G. Pals, A. Errami, E. Gluckman, Julián Llera, Weidong Wang, D. Livingston, H. Joenje, J. Winter (2007)
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2Nature Genetics, 39
A. Taylor, P. Byrd (2005)
Molecular pathology of ataxia telangiectasiaJournal of Clinical Pathology, 58
S. Seal, Deborah Thompson, A. Renwick, Anna Elliott, P. Kelly, R. Barfoot, T. Chagtai, H. Jayatilake, Munaza Ahmed, Katarina Spanova, B. North, L. McGuffog, D. Evans, D. Eccles, D. Easton, M. Stratton, N. Rahman, The Collaboration (2006)
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility allelesNature Genetics, 38
Deborah Thompson, D. Easton (2001)
Variation in cancer risks, by mutation position, in BRCA2 mutation carriers.American journal of human genetics, 68 2
M. Swift, Robin Caldwell, C. Chase (1980)
Reassessment of cancer predisposition of Fanconi anemia heterozygotes.Journal of the National Cancer Institute, 65 5
S. Thorlacius, G. Olafsdóttir, L. Tryggvadottir, S. Neuhausen, J. Jónasson, S. Tavtigian, H. Tulinius, H. Ögmundsdóttir, J. Eyfjörd (1996)
A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypesNature Genetics, 13
D. Whiteside, R. McLeod, Gail Graham, J. Steckley, K. Booth, M. Somerville, S. Andrew (2002)
A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots.Cancer research, 62 2
J. Peto, N. Collins, R. Barfoot, S. Seal, W. Warren, N. Rahman, D. Easton, Chris Evans, J. Deacon, Michael Stratton (1999)
Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer.Journal of the National Cancer Institute, 91 11
Stefan White, Ellen Sterrenburg, G. Ommen, J. Dunnen, M. Breuning (2003)
An alternative to FISH: detecting deletion and duplication carriers within 24 hoursJournal of Medical Genetics, 40
D. Kutler, Bhuvanesh Singh, J. Satagopan, S. Batish, M. Berwick, P. Giampietro, H. Hanenberg, A. Auerbach (2003)
A 20-year perspective on the International Fanconi Anemia Registry (IFAR).Blood, 101 4
N. Howlett, T. Taniguchi, S. Olson, B. Cox, Q. Waisfisz, C. Die-Smulders, N. Persky, M. Grompe, H. Joenje, G. Pals, H. Ikeda, E. Fox, A. D’Andrea (2002)
Biallelic Inactivation of BRCA2 in Fanconi AnemiaScience, 297
L. Arbour, Catherine Bonaı¨ti-Pellie´, L. Cannon-Albright, A. Chompret, T. Cole, C. Dhooge, W. Dupuis, A. Foot, W. Foulkes, Hazel Galvin, M. Gerrard, A. Gnekow, N. Graf, D. King, J. Kingston, Janice Kohler, G. Levitt, I. Lewis, A. O'meara, F. Millot, B. Pizer, Helen Price, P. Pujol, B. Royer-Pokora, V. Schumacher, C. Schwartz, R. Shannon, E. Sheridan, J. Skeen, P. Tonin, Gordon Vujanic, A. Weirich, Dr Rahman (2005)
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumourJournal of Medical Genetics, 42
B. Alter, M. Greene, Isela Velazquez, P. Rosenberg (2003)
Cancer in Fanconi anemia.Blood, 101 5
L. Aaltonen, P. Peltomäki, F. Leach, P. Sistonen, L. Pylkkänen, J. Mecklin, H. Järvinen, S. Powell, J. Jen, S. Hamilton, G. Petersen, K. Kinzler, B. Vogelstein, A. Chapelle (1993)
Clues to the pathogenesis of familial colorectal cancer.Science, 260 5109
R. Scott, S. Mansour, K. Pritchard‐Jones, Devinder Kumar, F. Macsweeney, N. Rahman (2007)
Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutationsNature Clinical Practice Oncology, 4
K. Truninger, M. Menigatti, Judith Luz, A. Russell, Ritva Haider, J. Gebbers, F. Bannwart, H. Yurtsever, J. Neuweiler, H. Riehle, M. Cattaruzza, K. Heinimann, P. Schär, J. Jiricny, G. Marra (2005)
Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer.Gastroenterology, 128 5
N. Rahman, S. Seal, D. Thompson, P. Kelly, A. Renwick, Anna Elliott, S. Reid, Katarina Spanova, R. Barfoot, T. Chagtai, H. Jayatilake, L. McGuffog, S. Hanks, D. Evans, D. Eccles, D. Easton, Michael Stratton (2007)
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility geneNature Genetics, 39
T. Taniguchi, A. D’Andrea (2006)
Molecular pathogenesis of Fanconi anemia: recent progress.Blood, 107 11
N. Nicolaides, N. Papadopoulos, Bo Liu, Ying-Fei Weit, K. Carter, S. Ruben, C. Rosen, W. Haseltine, R. Fleischmann, C. Fraser, M. Adams, J. Venter, M. Dunlop, S. Hamilton, G. Petersen, A. Chapelle, B. Vogelstein, K. Kinzler (1994)
Mutations of two P/WS homologues in hereditary nonpolyposis colon cancerNature, 371
K. Savitsky, A. Bar‐Shira, S. Gilad, G. Rotman, Y. Ziv, L. Vanagaite, D. Tagle, S. Smith, T. Uziel, S. Sfez, M. Ashkenazi, I. Pecker, M. Frydman, R. Harnik, S. Patanjali, A. Simmons, G. Clines, Adam Sartiel, R. Gatti, L. Chessa, O. Sanal, M. Lavin, N. Jaspers, A. Taylor, C. Arlett, T. Miki, S. Weissman, M. Lovett, F. Collins, Y. Shiloh (1995)
A single ataxia telangiectasia gene with a product similar to PI-3 kinase.Science, 268 5218
(2000)
Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1
B. Alter, P. Rosenberg, L. Brody (2006)
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2Journal of Medical Genetics, 44
Michel Vos, B. Hayward, Ruth Charlton, Graham Taylor, A. Glaser, Susan Picton, Trevor Cole, E. Maher, Carole McKeown, Jill Mann, J. Yates, Diana Baralle, Julia Rankin, D. Bonthron, Eamonn Sheridan (2006)
PMS2 mutations in childhood cancer.Journal of the National Cancer Institute, 98 5
Saima Siddiqui, Tahir Shamsi (2019)
Fanconi AnemiaHandbook of Tumor Syndromes
P. Futreal, L. Coin, M. Marshall, T. Down, T. Hubbard, R. Wooster, N. Rahman, Michael Stratton (2004)
A census of human cancer genesNature Reviews Cancer, 4
F. Leach, N. Nicolaides, N. Papadopoulos, Bo Liu, J. Jen, R. Parsons, P. Peltomäki, P. Sistonen, L. Aaltonen, M. Nyström-Lahti, X. Guan, Ji Zhang, P. Meltzer, Jing Yu, F. Kao, David Chen, K. Cerosaletti, R. Fournier, S. Todd, T. Lewis, R. Leach, S. Naylor, J. Weissenbach, J. Mecklin, H. Järvinen, G. Petersen, S. Hamilton, Jane Green, J. Jass, P. Watson, H. Lynch, J. Trent, A. Chapelle, K. Kinzler, B. Vogelstein (1993)
Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancerCell, 75
M. Levitus, Q. Waisfisz, B. Godthelp, Y. Vries, S. Hussain, W. Wiegant, Elhaam Elghalbzouri-Maghrani, Jûrgen Steltenpool, M. Rooimans, G. Pals, F. Arwert, C. Mathew, M. Zdzienicka, K. Hiom, J. Winter, H. Joenje (2005)
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group JNature Genetics, 37
Richard Gatti, Í. Berkel, E. Boder, G. Braedt, P. Charmley, P. Concannon, F. Ersoy, T. Foroud, Nicholas Jaspers, K. Lange, G. Lathrop, M. Leppert, Yusuke Nakamura, P. O'Connell, M. Paterson, W. Salser, O. Sanal, J. Silver, Robert Sparkes, E. Susi, Daniel Weeks, Shan Wei, Raymond White, Freda Yoder (1988)
Localization of an ataxia-telangiectasia gene to chromosome 11q22–23Nature, 336
B. Alter (2003)
Cancer in Fanconi anemia, 1927–2001Cancer, 97
R. Wooster, S. Neuhausen, J. Mangion, Y. Quirk, D. Ford, N. Collins, K. Nguyen, S. Seal, T. Tran, D. Averill (1994)
Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13.Science, 265 5181
H. Olsson (1999)
Cancer risks in BRCA2 mutation carriers.Journal of the National Cancer Institute, 91 15
M. Miyaki, M. Konishi, Kiyoko Tanaka, R. Kikuchi‐Yanoshita, M. Muraoka, M. Yasuno, T. Igari, M. Koike, M. Chiba, Takeo Mori (1997)
Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancerNature Genetics, 17
R. Fishel, M. Lescoe, M. Rao, N. Copeland, N. Jenkins, J. Garber, M. Kane, R. Kolodner (1993)
The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancerCell, 75
Autosomal dominant cancer predisposition genes for common cancers such as breast cancer and colorectal cancer have been well recognized for over a decade. Monoallelic mutations in these genes are associated with high risks of adult-onset cancer. In recent years, it has become apparent that biallelic mutations in some of these genes, such as BRCA2, MSH2 and MLH1, result in distinctive phenotypes, including childhood cancer predisposition. Conversely, it has also become evident that some genes which cause autosomal recessive cancer predisposition syndromes such as Fanconi anaemia and ataxia-telangiectasia are associated with modestly increased risks of adult cancers in monoallelic mutation carriers. These observations raise interesting implications with respect to the identification and phenotypic characterization of cancer predisposition genes.
Human Molecular Genetics – Oxford University Press
Published: Apr 15, 2007
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