Familial Breast Cancer

Since the localization and discovery of the first high‐risk breast cancer (BC) genes in 1990, there has been a substantial progress in unravelling its familial component. Increasing numbers of women at risk of BC are coming forward requesting advice on their risk and what they can do about it. Three...

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Published in:	Clinical genetics Vol. 82; no. 2; pp. 105 - 114
Main Authors:	Lalloo, F, Evans, D G
Format:	Journal Article
Language:	English
Published:	Oxford, UK Blackwell Publishing Ltd 01-08-2012 Wiley-Blackwell
Subjects:	Biological and medical sciences BRCA1 BRCA1 protein BRCA2 BRCA2 protein Breast cancer Breast Neoplasms - diagnosis Breast Neoplasms - genetics Breast Neoplasms - therapy familial Family Female Fundamental and applied biological sciences. Psychology Genes Genes, BRCA1 Genes, BRCA2 Genes, p53 Genetic Predisposition to Disease Genetics of eukaryotes. Biological and molecular evolution Gynecology. Andrology. Obstetrics Humans Mammary gland diseases Medical genetics Medical sciences Molecular and cellular biology p53 protein Penetrance Risk factors Risk groups TP53 Tumors Breast disease Family study Breast cancer Malignant tumor BRCA2 Mammary gland diseases familial TP53 Gene Familial cancer Genetics BRCA 1 TP53 Cancer
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Abstract	Since the localization and discovery of the first high‐risk breast cancer (BC) genes in 1990, there has been a substantial progress in unravelling its familial component. Increasing numbers of women at risk of BC are coming forward requesting advice on their risk and what they can do about it. Three groups of genetic predisposition alleles have so far been identified with high‐risk genes conferring 40–85% lifetime risk including BRCA1, BRCA2 and TP53. Moderate risk genes (20–40% risk) including PALB1, BRIP, ATM and CHEK2, and a host of low‐risk common alleles identified largely through genome‐wide association studies. Currently, only BRCA1, BRCA2 and TP53 are used in clinical practice on a wide scale, although testing of up to 50–100 gene loci may be possible in the future utilizing next‐generation technology. A podcast of this article is available at http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1399‐0004/homepage/clinical_genetics_podcasts.htm
AbstractList	Since the localization and discovery of the first high-risk breast cancer (BC) genes in 1990, there has been a substantial progress in unravelling its familial component. Increasing numbers of women at risk of BC are coming forward requesting advice on their risk and what they can do about it. Three groups of genetic predisposition alleles have so far been identified with high-risk genes conferring 40-85% lifetime risk including BRCA1, BRCA2 and TP53. Moderate risk genes (20-40% risk) including PALB1, BRIP, ATM and CHEK2, and a host of low-risk common alleles identified largely through genome-wide association studies. Currently, only BRCA1, BRCA2 and TP53 are used in clinical practice on a wide scale, although testing of up to 50-100 gene loci may be possible in the future utilizing next-generation technology. A podcast of this article is available at Since the localization and discovery of the first high-risk breast cancer (BC) genes in 1990, there has been a substantial progress in unraveling its familial component. Increasing numbers of women at risk of BC are coming forward requesting advice on their risk and what they can do about it. Three groups of genetic predisposition alleles have so far been identified with high-risk genes conferring 40-85% lifetime risk including BRCA1, BRCA2 and TP53. Moderate risk genes (20-40% risk) including PALB1, BRIP, ATM and CHEK2, and a host of low-risk common alleles identified largely through genome-wide association studies. Currently, only BRCA1, BRCA2 and TP53 are used in clinical practice on a wide scale, although testing of up to 50-100 gene loci may be possible in the future utilizing next-generation technology.[PUBLICATION ABSTRACT] Since the localization and discovery of the first high-risk breast cancer (BC) genes in 1990, there has been a substantial progress in unravelling its familial component. Increasing numbers of women at risk of BC are coming forward requesting advice on their risk and what they can do about it. Three groups of genetic predisposition alleles have so far been identified with high-risk genes conferring 40-85% lifetime risk including BRCA1, BRCA2 and TP53. Moderate risk genes (20-40% risk) including PALB1, BRIP, ATM and CHEK2, and a host of low-risk common alleles identified largely through genome-wide association studies. Currently, only BRCA1, BRCA2 and TP53 are used in clinical practice on a wide scale, although testing of up to 50-100 gene loci may be possible in the future utilizing next-generation technology. Since the localization and discovery of the first high‐risk breast cancer (BC) genes in 1990, there has been a substantial progress in unravelling its familial component. Increasing numbers of women at risk of BC are coming forward requesting advice on their risk and what they can do about it. Three groups of genetic predisposition alleles have so far been identified with high‐risk genes conferring 40–85% lifetime risk including BRCA1, BRCA2 and TP53 . Moderate risk genes (20–40% risk) including PALB1, BRIP, ATM and CHEK2 , and a host of low‐risk common alleles identified largely through genome‐wide association studies. Currently, only BRCA1, BRCA2 and TP53 are used in clinical practice on a wide scale, although testing of up to 50–100 gene loci may be possible in the future utilizing next‐generation technology. A podcast of this article is available at http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1399‐0004/homepage/clinical_genetics_podcasts.htm Since the localization and discovery of the first high‐risk breast cancer (BC) genes in 1990, there has been a substantial progress in unravelling its familial component. Increasing numbers of women at risk of BC are coming forward requesting advice on their risk and what they can do about it. Three groups of genetic predisposition alleles have so far been identified with high‐risk genes conferring 40–85% lifetime risk including BRCA1, BRCA2 and TP53. Moderate risk genes (20–40% risk) including PALB1, BRIP, ATM and CHEK2, and a host of low‐risk common alleles identified largely through genome‐wide association studies. Currently, only BRCA1, BRCA2 and TP53 are used in clinical practice on a wide scale, although testing of up to 50–100 gene loci may be possible in the future utilizing next‐generation technology. A podcast of this article is available at http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1399‐0004/homepage/clinical_genetics_podcasts.htm
Author	Evans, D G Lalloo, F
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Keywords	Breast disease Family study Breast cancer Malignant tumor BRCA2 Mammary gland diseases familial TP53 Gene Familial cancer Genetics BRCA 1 TP53 Cancer
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ATM muta 2007; 39 2010; 11 2009; 46 2009; 41 2002; 94 2010; 304 2006; 38 1989; 81 2004; 23 2010; 102 2006; 295 2008; 8 2011; 12 2008; 73 2011; 19 1994; 266 2010; 22 1991; 48 2006; 24 1997; 15 1987; 316 2004; 292 2011; 20 2007; 9 1998; 90 2002; 346 2003; 4 1988; 85 2010; 70 2010; 3 1999; 91 2003; 40 2009; 324 2011; 364 2009; 18 1990; 250 2003; 361 2004; 41 2001; 322 2007; 447 2012 2000; 278 2000; 26 2011 2002; 31 2005; 434 1999; 340 2005; 42 2002; 4 2004 1998; 62 2003; 72 2008; 122 2007; 99 2004; 10 2010; 42 2004; 351 2011; 306 2010; 47 2005; 365 2002; 360 2000; 83 2008; 45 2005; 97 2009; 101 2011; 43 2011; 48 2008; 40 2007; 44 2003; 63 2008; 82 2005; 11 e_1_2_7_5_2 e_1_2_7_9_2 e_1_2_7_7_2 Maurice A (e_1_2_7_69_2); 2011 e_1_2_7_19_2 e_1_2_7_17_2 e_1_2_7_60_2 e_1_2_7_81_2 e_1_2_7_13_2 Moran A (e_1_2_7_30_2) 2011 e_1_2_7_62_2 e_1_2_7_87_2 e_1_2_7_11_2 e_1_2_7_43_2 e_1_2_7_64_2 e_1_2_7_85_2 e_1_2_7_45_2 e_1_2_7_66_2 e_1_2_7_47_2 e_1_2_7_68_2 e_1_2_7_89_2 e_1_2_7_26_2 e_1_2_7_49_2 e_1_2_7_28_2 Antoniou AC (e_1_2_7_15_2) 2008; 45 Challberg J (e_1_2_7_83_2); 2011 e_1_2_7_90_2 Huang Z (e_1_2_7_84_2) 2000; 278 e_1_2_7_71_2 e_1_2_7_94_2 e_1_2_7_50_2 e_1_2_7_92_2 e_1_2_7_25_2 e_1_2_7_52_2 e_1_2_7_75_2 e_1_2_7_31_2 e_1_2_7_54_2 e_1_2_7_73_2 e_1_2_7_21_2 e_1_2_7_33_2 e_1_2_7_56_2 e_1_2_7_79_2 e_1_2_7_35_2 e_1_2_7_58_2 e_1_2_7_77_2 Meijers‐Heijboer H (e_1_2_7_41_2) 2002; 31 e_1_2_7_37_2 e_1_2_7_39_2 Claus EB (e_1_2_7_3_2) 1991; 48 e_1_2_7_4_2 e_1_2_7_2_2 e_1_2_7_8_2 e_1_2_7_6_2 e_1_2_7_18_2 e_1_2_7_82_2 e_1_2_7_16_2 e_1_2_7_61_2 e_1_2_7_80_2 e_1_2_7_14_2 e_1_2_7_40_2 e_1_2_7_63_2 e_1_2_7_86_2 e_1_2_7_12_2 e_1_2_7_42_2 e_1_2_7_65_2 e_1_2_7_10_2 e_1_2_7_44_2 e_1_2_7_67_2 e_1_2_7_46_2 e_1_2_7_88_2 e_1_2_7_48_2 e_1_2_7_27_2 e_1_2_7_29_2 e_1_2_7_72_2 e_1_2_7_93_2 e_1_2_7_70_2 e_1_2_7_91_2 e_1_2_7_24_2 e_1_2_7_51_2 e_1_2_7_76_2 e_1_2_7_22_2 e_1_2_7_32_2 e_1_2_7_53_2 e_1_2_7_74_2 e_1_2_7_20_2 e_1_2_7_34_2 e_1_2_7_55_2 e_1_2_7_36_2 e_1_2_7_57_2 e_1_2_7_78_2 e_1_2_7_38_2 e_1_2_7_59_2 Hogervorst FB (e_1_2_7_23_2) 2003; 63
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Snippet	Since the localization and discovery of the first high‐risk breast cancer (BC) genes in 1990, there has been a substantial progress in unravelling its familial... Since the localization and discovery of the first high-risk breast cancer (BC) genes in 1990, there has been a substantial progress in unravelling its familial... Since the localization and discovery of the first high-risk breast cancer (BC) genes in 1990, there has been a substantial progress in unraveling its familial...
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SubjectTerms	Biological and medical sciences BRCA1 BRCA1 protein BRCA2 BRCA2 protein Breast cancer Breast Neoplasms - diagnosis Breast Neoplasms - genetics Breast Neoplasms - therapy familial Family Female Fundamental and applied biological sciences. Psychology Genes Genes, BRCA1 Genes, BRCA2 Genes, p53 Genetic Predisposition to Disease Genetics of eukaryotes. Biological and molecular evolution Gynecology. Andrology. Obstetrics Humans Mammary gland diseases Medical genetics Medical sciences Molecular and cellular biology p53 protein Penetrance Risk factors Risk groups TP53 Tumors
Title	Familial Breast Cancer
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