-
1
-
-
0033740880
-
Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases
-
Anglian Breast Cancer Study Group. Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Br. J. Cancer 83, 1301-1308 (2000).
-
(2000)
Br. J. Cancer
, vol.83
, pp. 1301-1308
-
-
-
2
-
-
37549036689
-
Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups
-
John, E.M. et al. Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. J. Am. Med. Assoc. 298, 2869-2876 (2007).
-
(2007)
J. Am. Med. Assoc.
, vol.298
, pp. 2869-2876
-
-
John, E.M.1
-
3
-
-
33748092354
-
Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black American women ages 35 to 64 years
-
Malone, K.E. et al. Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black American women ages 35 to 64 years. Cancer Res. 66, 8297-8308 (2006).
-
(2006)
Cancer Res.
, vol.66
, pp. 8297-8308
-
-
Malone, K.E.1
-
4
-
-
84896995635
-
Two decades after BRCA: Setting paradigms in personalized cancer care and prevention
-
Couch, F.J., Nathanson, K.L. & Offit, K. Two decades after BRCA: setting paradigms in personalized cancer care and prevention. Science 343, 1466-1470 (2014).
-
(2014)
Science
, vol.343
, pp. 1466-1470
-
-
Couch, F.J.1
Nathanson, K.L.2
Offit, K.3
-
5
-
-
84897003294
-
"The race" to clone BRCA1
-
King, M.C. "The race" to clone BRCA1. Science 343, 1462-1465 (2014).
-
(2014)
Science
, vol.343
, pp. 1462-1465
-
-
King, M.C.1
-
6
-
-
84856019858
-
The DNA damage response and cancer therapy
-
Lord, C.J. & Ashworth, A. The DNA damage response and cancer therapy. Nature 481, 287-294 (2012).
-
(2012)
Nature
, vol.481
, pp. 287-294
-
-
Lord, C.J.1
Ashworth, A.2
-
7
-
-
84896940791
-
Cancer suppression by the chromosome custodians, BRCA1 and BRCA2
-
Venkitaraman, A.R. Cancer suppression by the chromosome custodians, BRCA1 and BRCA2. Science 343, 1470-1475 (2014).
-
(2014)
Science
, vol.343
, pp. 1470-1475
-
-
Venkitaraman, A.R.1
-
8
-
-
17244373777
-
Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy
-
Farmer, H. et al. Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature 434, 917-921 (2005).
-
(2005)
Nature
, vol.434
, pp. 917-921
-
-
Farmer, H.1
-
9
-
-
84926432359
-
Homologous recombination and human health: The roles of BRCA1, BRCA2, and associated proteins
-
Prakash, R., Zhang, Y., Feng, W. & Jasin, M. Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteins. Cold Spring Harb. Perspect. Biol. 7, a016600 (2015).
-
(2015)
Cold Spring Harb. Perspect. Biol.
, vol.7
, pp. a016600
-
-
Prakash, R.1
Zhang, Y.2
Feng, W.3
Jasin, M.4
-
10
-
-
17244375049
-
Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase
-
Bryant, H.E. et al. Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase. Nature 434, 913-917 (2005).
-
(2005)
Nature
, vol.434
, pp. 913-917
-
-
Bryant, H.E.1
-
11
-
-
67650471685
-
Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers
-
Fong, P.C. et al. Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N. Engl. J. Med. 361, 123-134 (2009).
-
(2009)
N. Engl. J. Med.
, vol.361
, pp. 123-134
-
-
Fong, P.C.1
-
12
-
-
77955039099
-
Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: A proof-of-concept trial
-
Audeh, M.W. et al. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial. Lancet 376, 245-251 (2010).
-
(2010)
Lancet
, vol.376
, pp. 245-251
-
-
Audeh, M.W.1
-
13
-
-
77955019276
-
Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: A proof-of-concept trial
-
Tutt, A. et al. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. Lancet 376, 235-244 (2010).
-
(2010)
Lancet
, vol.376
, pp. 235-244
-
-
Tutt, A.1
-
14
-
-
84946019429
-
DNA-repair defects and olaparib in metastatic prostate cancer
-
Mateo, J. et al. DNA-repair defects and olaparib in metastatic prostate cancer. N. Engl. J. Med. 373, 1697-1708 (2015).
-
(2015)
N. Engl. J. Med.
, vol.373
, pp. 1697-1708
-
-
Mateo, J.1
-
15
-
-
84859523588
-
Olaparib maintenance therapy in platinum-sensitive relapsed ovarian cancer
-
Ledermann, J. et al. Olaparib maintenance therapy in platinum-sensitive relapsed ovarian cancer. N. Engl. J. Med. 366, 1382-1392 (2012).
-
(2012)
N. Engl. J. Med.
, vol.366
, pp. 1382-1392
-
-
Ledermann, J.1
-
16
-
-
80054960864
-
Quantitative copy number analysis by Multiplex Ligation-dependent Probe Amplification (MLPA) of BRCA1-associated breast cancer regions identifies BRCAness
-
Lips, E.H. et al. Quantitative copy number analysis by Multiplex Ligation-dependent Probe Amplification (MLPA) of BRCA1-associated breast cancer regions identifies BRCAness. Breast Cancer Res. 13, R107 (2011).
-
(2011)
Breast Cancer Res.
, vol.13
, pp. R107
-
-
Lips, E.H.1
-
17
-
-
84904036648
-
BRCA1 gene promoter methylation status in high-grade serous ovarian cancer patients - A study of the Tumour Bank Ovarian Cancer (TOC) and Ovarian Cancer Diagnosis consortium (OVCAD)
-
Ruscito, I. et al. BRCA1 gene promoter methylation status in high-grade serous ovarian cancer patients - a study of the Tumour Bank Ovarian Cancer (TOC) and Ovarian Cancer Diagnosis consortium (OVCAD). Eur. J. Cancer 50, 2090-2098 (2014).
-
(2014)
Eur. J. Cancer
, vol.50
, pp. 2090-2098
-
-
Ruscito, I.1
-
18
-
-
0037014795
-
Gene expression profiles of BRCA1-linked, BRCA2-linked, and sporadic ovarian cancers
-
Jazaeri, A.A. et al. Gene expression profiles of BRCA1-linked, BRCA2-linked, and sporadic ovarian cancers. J. Natl. Cancer Inst. 94, 990-1000 (2002).
-
(2002)
J. Natl. Cancer Inst.
, vol.94
, pp. 990-1000
-
-
Jazaeri, A.A.1
-
19
-
-
84877993627
-
Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling
-
Larsen, M.J. et al. Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling. PLoS One 8, e64268 (2013).
-
(2013)
PLoS One
, vol.8
, pp. e64268
-
-
Larsen, M.J.1
-
20
-
-
84921025509
-
Genome-wide transcriptome profiling of homologous recombination DNA repair
-
Peng, G. et al. Genome-wide transcriptome profiling of homologous recombination DNA repair. Nat. Commun. 5, 3361 (2014).
-
(2014)
Nat. Commun.
, vol.5
, pp. 3361
-
-
Peng, G.1
-
21
-
-
70349166545
-
Prediction of BRCA1-association in hereditary non-BRCA1/2 breast carcinomas with array-CGH
-
Joosse, S.A. et al. Prediction of BRCA1-association in hereditary non-BRCA1/2 breast carcinomas with array-CGH. Breast Cancer Res. Treat. 116, 479-489 (2009).
-
(2009)
Breast Cancer Res. Treat.
, vol.116
, pp. 479-489
-
-
Joosse, S.A.1
-
22
-
-
79959733228
-
An aCGH classifier derived from BRCA1-mutated breast cancer and benefit of high-dose platinum-based chemotherapy in HER2-negative breast cancer patients
-
Vollebergh, M.A. et al. An aCGH classifier derived from BRCA1-mutated breast cancer and benefit of high-dose platinum-based chemotherapy in HER2-negative breast cancer patients. Ann. Oncol. 22, 1561-1570 (2011).
-
(2011)
Ann. Oncol.
, vol.22
, pp. 1561-1570
-
-
Vollebergh, M.A.1
-
23
-
-
84901664854
-
Genomic scars as biomarkers of homologous recombination deficiency and drug response in breast and ovarian cancers
-
Watkins, J.A., Irshad, S., Grigoriadis, A. & Tutt, A.N. Genomic scars as biomarkers of homologous recombination deficiency and drug response in breast and ovarian cancers. Breast Cancer Res. 16, 211 (2014).
-
(2014)
Breast Cancer Res.
, vol.16
, pp. 211
-
-
Watkins, J.A.1
Irshad, S.2
Grigoriadis, A.3
Tutt, A.N.4
-
24
-
-
77958045536
-
A marker of homologous recombination predicts pathologic complete response to neoadjuvant chemotherapy in primary breast cancer
-
Graeser, M. et al. A marker of homologous recombination predicts pathologic complete response to neoadjuvant chemotherapy in primary breast cancer. Clin. Cancer Res. 16, 6159-6168 (2010).
-
(2010)
Clin. Cancer Res.
, vol.16
, pp. 6159-6168
-
-
Graeser, M.1
-
26
-
-
55549089660
-
Accurate whole human genome sequencing using reversible terminator chemistry
-
Bentley, D.R. et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456, 53-59 (2008).
-
(2008)
Nature
, vol.456
, pp. 53-59
-
-
Bentley, D.R.1
-
27
-
-
84973594792
-
Landscape of somatic mutations in 560 breast cancer whole-genome sequences
-
Nik-Zainal, S. et al. Landscape of somatic mutations in 560 breast cancer whole-genome sequences. Nature 534, 47-54 (2016).
-
(2016)
Nature
, vol.534
, pp. 47-54
-
-
Nik-Zainal, S.1
-
28
-
-
84965121461
-
The topography of mutational processes in breast cancer genomes
-
Morganella, S. et al. The topography of mutational processes in breast cancer genomes. Nat. Commun. 7, 11383 (2016).
-
(2016)
Nat. Commun.
, vol.7
, pp. 11383
-
-
Morganella, S.1
-
29
-
-
84861541343
-
Mutational processes molding the genomes of 21 breast cancers
-
Nik-Zainal, S. et al. Mutational processes molding the genomes of 21 breast cancers. Cell 149, 979-993 (2012).
-
(2012)
Cell
, vol.149
, pp. 979-993
-
-
Nik-Zainal, S.1
-
30
-
-
84861550476
-
The life history of 21 breast cancers
-
Nik-Zainal, S. et al. The life history of 21 breast cancers. Cell 149, 994-1007 (2012).
-
(2012)
Cell
, vol.149
, pp. 994-1007
-
-
Nik-Zainal, S.1
-
31
-
-
84882837534
-
Signatures of mutational processes in human cancer
-
Alexandrov, L.B. et al. Signatures of mutational processes in human cancer. Nature 500, 415-421 (2013).
-
(2013)
Nature
, vol.500
, pp. 415-421
-
-
Alexandrov, L.B.1
-
32
-
-
84924056345
-
Whole genomes redefine the mutational landscape of pancreatic cancer
-
Waddell, N. et al. Whole genomes redefine the mutational landscape of pancreatic cancer. Nature 518, 495-501 (2015).
-
(2015)
Nature
, vol.518
, pp. 495-501
-
-
Waddell, N.1
-
33
-
-
84960194345
-
Genomic analyses identify molecular subtypes of pancreatic cancer
-
Bailey, P. et al. Genomic analyses identify molecular subtypes of pancreatic cancer. Nature 531, 47-52 (2016).
-
(2016)
Nature
, vol.531
, pp. 47-52
-
-
Bailey, P.1
-
34
-
-
84930638395
-
Whole-genome characterization of chemoresistant ovarian cancer
-
Patch, A.M. et al. Whole-genome characterization of chemoresistant ovarian cancer. Nature 521, 489-494 (2015).
-
(2015)
Nature
, vol.521
, pp. 489-494
-
-
Patch, A.M.1
-
35
-
-
84946120134
-
A mutational signature in gastric cancer suggests therapeutic strategies
-
Alexandrov, L.B., Nik-Zainal, S., Siu, H.C., Leung, S.Y. & Stratton, M.R. A mutational signature in gastric cancer suggests therapeutic strategies. Nat. Commun. 6, 8683 (2015).
-
(2015)
Nat. Commun.
, vol.6
, pp. 8683
-
-
Alexandrov, L.B.1
Nik-Zainal, S.2
Siu, H.C.3
Leung, S.Y.4
Stratton, M.R.5
-
36
-
-
80053174988
-
Genomic and phenotypic analysis of BRCA2 mutated breast cancers reveals co-occurring changes linked to progression
-
Stefansson, O.A. et al. Genomic and phenotypic analysis of BRCA2 mutated breast cancers reveals co-occurring changes linked to progression. Breast Cancer Res. 13, R95 (2011).
-
(2011)
Breast Cancer Res.
, vol.13
, pp. R95
-
-
Stefansson, O.A.1
-
37
-
-
84936890500
-
Subclonal diversification of primary breast cancer revealed by multiregion sequencing
-
Yates, L.R. et al. Subclonal diversification of primary breast cancer revealed by multiregion sequencing. Nat. Med. 21, 751-759 (2015).
-
(2015)
Nat. Med.
, vol.21
, pp. 751-759
-
-
Yates, L.R.1
-
38
-
-
77955770116
-
DNA repair signature is associated with anthracycline response in triple negative breast cancer patients
-
Rodriguez, A.A. et al. DNA repair signature is associated with anthracycline response in triple negative breast cancer patients. Breast Cancer Res. Treat. 123, 189-196 (2010).
-
(2010)
Breast Cancer Res. Treat.
, vol.123
, pp. 189-196
-
-
Rodriguez, A.A.1
-
39
-
-
0036341143
-
A significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer
-
Chappuis, P.O. et al. A significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer. J. Med. Genet. 39, 608-610 (2002).
-
(2002)
J. Med. Genet.
, vol.39
, pp. 608-610
-
-
Chappuis, P.O.1
-
40
-
-
77953796463
-
Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays
-
Lee, M.S. et al. Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. Cancer Res. 70, 4880-4890 (2010).
-
(2010)
Cancer Res.
, vol.70
, pp. 4880-4890
-
-
Lee, M.S.1
-
41
-
-
39849097680
-
Resistance to therapy caused by intragenic deletion in BRCA2
-
Edwards, S.L. et al. Resistance to therapy caused by intragenic deletion in BRCA2. Nature 451, 1111-1115 (2008).
-
(2008)
Nature
, vol.451
, pp. 1111-1115
-
-
Edwards, S.L.1
-
42
-
-
39849106300
-
Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers
-
Sakai, W. et al. Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers. Nature 451, 1116-1120 (2008).
-
(2008)
Nature
, vol.451
, pp. 1116-1120
-
-
Sakai, W.1
-
43
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754-1760 (2009).
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
44
-
-
70350694443
-
Pindel: A pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
-
Ye, K., Schulz, M.H., Long, Q., Apweiler, R. & Ning, Z. Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics 25, 2865-2871 (2009).
-
(2009)
Bioinformatics
, vol.25
, pp. 2865-2871
-
-
Ye, K.1
Schulz, M.H.2
Long, Q.3
Apweiler, R.4
Ning, Z.5
-
45
-
-
43149115851
-
Velvet: Algorithms for de novo short read assembly using de Bruijn graphs
-
Zerbino, D.R. & Birney, E. Velvet: algorithms for de novo short read assembly using de Bruijn graphs. Genome Res. 18, 821-829 (2008).
-
(2008)
Genome Res.
, vol.18
, pp. 821-829
-
-
Zerbino, D.R.1
Birney, E.2
-
46
-
-
84873186179
-
Deciphering signatures of mutational processes operative in human cancer
-
Alexandrov, L.B., Nik-Zainal, S., Wedge, D.C., Campbell, P.J. & Stratton, M.R. Deciphering signatures of mutational processes operative in human cancer. Cell Reports 3, 246-259 (2013).
-
(2013)
Cell Reports
, vol.3
, pp. 246-259
-
-
Alexandrov, L.B.1
Nik-Zainal, S.2
Wedge, D.C.3
Campbell, P.J.4
Stratton, M.R.5
-
47
-
-
84949104081
-
Clock-like mutational processes in human somatic cells
-
Alexandrov, L.B. et al. Clock-like mutational processes in human somatic cells. Nat. Genet. 47, 1402-1407 (2015).
-
(2015)
Nat. Genet.
, vol.47
, pp. 1402-1407
-
-
Alexandrov, L.B.1
-
48
-
-
78049248432
-
Allele-specific copy number analysis of tumors
-
Van Loo, P. et al. Allele-specific copy number analysis of tumors. Proc. Natl. Acad. Sci. USA 107, 16910-16915 (2010).
-
(2010)
Proc. Natl. Acad. Sci. USA
, vol.107
, pp. 16910-16915
-
-
Van Loo, P.1
-
49
-
-
84869079205
-
Patterns of genomic loss of heterozygosity predict homologous recombination repair defects in epithelial ovarian cancer
-
Abkevich, V. et al. Patterns of genomic loss of heterozygosity predict homologous recombination repair defects in epithelial ovarian cancer. Br. J. Cancer 107, 1776-1782 (2012).
-
(2012)
Br. J. Cancer
, vol.107
, pp. 1776-1782
-
-
Abkevich, V.1
-
50
-
-
84895929400
-
Characterization of the genomic features and expressed fusion genes in micropapillary carcinomas of the breast
-
Natrajan, R. et al. Characterization of the genomic features and expressed fusion genes in micropapillary carcinomas of the breast. J. Pathol. 232, 553-565 (2014).
-
(2014)
J. Pathol.
, vol.232
, pp. 553-565
-
-
Natrajan, R.1
|