Hereditary ovarian cancer: Not only BRCA 1 and 2 Genes

BioMed Research International

Volumn 2015, Issue , 2015, Pages

  Toss, Angela ^a   Tomasello, Chiara ^a   Razzaboni, Elisabetta ^a   Contu, Giannina ^a   Grandi, Giovanni ^a   Cagnacci, Angelo ^a   Schilder, Russell J ^b   Cortesi, Laura ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BARD1 GENE; CANCER PATIENT; CANCER RISK; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CHEK2 GENE; CLINICAL FEATURE; DNA REPAIR; DOUBLE STRANDED DNA BREAK; FAMILIAL CANCER; GENE MUTATION; GENETIC SUSCEPTIBILITY; GERMLINE MUTATION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HISTOPATHOLOGY; HUMAN; MISMATCH REPAIR; MLH1 GENE; MLH3 GENE; MOLECULAR DIAGNOSIS; MRE11 GENE; MSH2 GENE; MSH6 GENE; MULTIPLE CANCER; NEXT GENERATION SEQUENCING; ONCOGENE; ONCOGENE BRCA 2; OVARY CANCER; PALB2 GENE; PMS2 GENE; REVIEW; TP53 GENE; TUMOR SUPPRESSOR GENE; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; FEMALE; GENETIC PREDISPOSITION; GENETICS; LI-FRAUMENI SYNDROME; METABOLISM; OVARIAN NEOPLASMS; PATHOLOGY;

BRCA1 PROTEIN; BRCA1 PROTEIN, HUMAN; BRCA2 PROTEIN; BRCA2 PROTEIN, HUMAN;

BRCA1 PROTEIN; BRCA2 PROTEIN; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LI-FRAUMENI SYNDROME; OVARIAN NEOPLASMS;

EID: 84930638458     PISSN: 23146133     EISSN: 23146141     Source Type: Journal    
DOI: 10.1155/2015/341723     Document Type: Review

References (94)

1. J. Ferlay, H.-R. Shin, F. Bray, D. Forman, C. Mathers, and D. M. Parkin, "Estimates of worldwide burden of cancer in 2008: GLOBOCAN2008" International Journal ofCancer, vol. 127, no. 12, pp. 2893-2917, 2010
2. R. Siegel, J. Ma, Z. Zou, and A. Jemal, "Cancer statistics, 2014" CA-Cancer Journal for Clinicians, vol. 64, no. 1, pp. 9-29, 2014
3. T. Walsh, S. Casadei, M. K. Lee et al., "Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing" Proceedings of the National Academy of Sciences of the United States of America, vol. 108, no. 44, pp. 18032-18037, 2011
4. R. Wooster and B. L. Weber, "Breast and ovarian cancer" The New England Journal of Medicine, vol. 348, no. 23, pp. 2339-2347, 2003
5. M. S. Brose, T. R. Rebbeck, K. A. Calzone, J. E. Stopfer, K. L. Nathanson, and B. L. Weber, "Cancer risk estimates for BCRA1 mutation carriers identified in a risk evaluation program" Journal of the National Cancer Institute, vol. 94, no. 18, pp. 1365-1372, 2002
6. D. Ford, D. F. Easton, D. T. Bishop, S. A. Narod, and D. E. Goldgar, "Risks of cancer in BRCA1-mutation carriers" The Lancet, vol. 343, no. 8899, pp. 692-695, 1994
7. D. Easton, "Cancer risks in BRCA2mutation carriers: the breast cancer linkage consortium" Journal of the National Cancer Institute, vol. 91, no. 15, pp. 1310-1316, 1999
8. A. Toss and C. Laura, "Molecular mechanisms of PARP inhibitors In BRCA-related ovarian cancer" Journal of Cancer Science and Therapy, vol. 5, no. 11, pp. 409-416, 2013
9. T. Walsh, S. Casadei, K. H. Coats et al., "Spectrumof mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer" Journal of the AmericanMedical Association, vol. 295, no. 12, pp. 1379-1388, 2006
10. S. Casadei, B. M. Norquist, T. Walsh et al., "Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer" Cancer Research, vol. 71, no. 6, pp. 2222-2229, 2011
11. N. J. Engel, P. Gordon, D. L. Thull et al., "A multidisciplinary clinic for individualizing management of patients at increased risk for breast and gynecologic cancer" Familial Cancer, vol. 11, no. 3, pp. 419-427, 2012
12. L. Liliac, C. Amalinei, R. Balan, A. Grigoras? and I.-D. Caruntu, "Ovarian cancer: Insights into genetics and pathogeny" Histology and Histopathology, vol. 27, no. 6, pp. 707-719, 2012
13. R. C. Bast Jr., B. Hennessy, and G. B. Mills, "The biology of ovarian cancer: new opportunities for translation" Nature Reviews Cancer, vol. 9, no. 6, pp. 415-428, 2009
14. R. T. Marquez, K. A. Baggerly, A. P. Patterson et al., "Patterns of gene expression in different histotypes of epithelial ovarian cancer correlate with those in normal fallopian tube, endometrium, and colon" Clinical Cancer Research, vol. 11, no. 17, pp. 6116-6126, 2005
15. R. J. Kurman, "Origin and molecular pathogenesis of ovarian high-grade serous carcinoma" Annals of Oncology, vol. 24, supplement 10, pp. x16-x21, 2013
16. A. R. Sama and R. J. Schilder, "Refractory fallopian tube carcinoma-current perspectives in pathogenesis and management" International Journal ofWomen's Health, vol. 6, no. 1, pp. 149-157, 2014
17. R. J. Kurman and I.-M. Shih, "Pathogenesis of ovarian cancer: lessons from morphology and molecular biology and their clinical implications" International Journal of Gynecological Pathology, vol. 27, no. 2, pp. 151-160, 2008
18. H. T. Lynch, M. W. Shaw, C. W. Magnuson, A. L. Larsen, and A. J. Krush, "Hereditary factors in cancer. Study of two large midwestern kindreds" Archives of Internal Medicine, vol. 117, no. 2, pp. 206-212, 1966
19. H. T. Lynch and A. J. Krush, "Heredity and adenocarcinoma of the colon" Gastroenterology, vol. 53, no. 4, pp. 517-527, 1967
20. H. T. Lynch, C. R. Boland, G. Gong et al., "Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications" European Journal of Human Genetics, vol. 14, no. 4, pp. 390-402, 2006
21. H. T. Lynch, J. F. Lynch, P. M. Lynch, and T. Attard, "Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management" Familial Cancer, vol. 7, no. 1, pp. 27-39, 2008
22. H. T. Lynch and P. M. Lynch, "The cancer-family syndrome: a pragmatic basis for syndrome identification" Diseases of the Colon & Rectum, vol. 22, no. 2, pp. 106-110, 1979
23. H. T. Lynch, M. J. Casey, C. L. Snyder et al., "Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management" Molecular Oncology, vol. 3, no. 2, pp. 97-137, 2009
24. P. Watson, R. B?tzow, H. T. Lynch et al., "The clinical features of ovarian cancer in hereditary nonpolyposis colorectal cancer" Gynecologic Oncology, vol. 82, no. 2, pp. 223-228, 2001
25. H. F. A. Vasen, A. Stormorken, F. H. Menko et al., "MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families" Journal of Clinical Oncology, vol. 19, no. 20, pp. 4074-4080, 2001
26. P. Watson, H. F. A. Vasen, J.-P. Mecklin et al., "The risk of extracolonic, extra-endometrial cancer in the Lynch syndrome" International Journal of Cancer, vol. 123, no. 2, pp. 444-449, 2008
27. M. H. Chui, C. B. Gilks, K. Cooper, and B. A. Clarke, "Identifying lynch syndrome in patients with ovarian carcinoma: the significance of tumor subtype" Advances in Anatomic Pathology, vol. 20, no. 6, pp. 378-386, 2013
28. K. Q. Cai, C. Albarracin, D. Rosen et al., "Microsatellite instability and alteration of the expression of hMLH1 and hMSH2 in ovarian clear cell carcinoma" Human Pathology, vol. 35, no. 5, pp. 552-559, 2004
29. J. Liu, C. T. Albarracin, K.-H. Chang et al., "Microsatellite instability and expression of hMLH1 and hMSH2 proteins in ovarian endometrioid cancer" Modern Pathology, vol. 17, no. 1, pp. 75-80, 2004
30. T. Pal, J. Permuth-Wey, A. Kumar, and T. A. Sellers, "Systematic review and meta-Analysis of ovarian cancers: estimation of microsatellite-high frequency and characterization ofmismatch repair deficient tumor histology" Clinical Cancer Research, vol. 14, no. 21, pp. 6847-6854, 2008
31. M. H. Chui, P. Ryan, J. Radigan et al., "The histomorphology of Lynch syndrome-Associated ovarian carcinomas: toward a subtype-specific screening strategy" The American Journal of Surgical Pathology, vol. 38, no. 9, pp. 1173-1181, 2014
32. E. M. Grindedal, L. Renkonen-Sinisalo, H. Vasen et al., "Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds" Journal of Medical Genetics, vol. 47, no. 2, pp. 99-102, 2010
33. L. A. Baldwin, B. Huang, R. W. Miller et al., "Ten-year relative survival for epithelial ovarian cancer" Obstetrics & Gynecology, vol. 120, no. 3, pp. 612-618, 2012
34. K. R. Vierkoetter, A. R. Ayabe, M. VanDrunen, H. J. Ahn, D. M. Shimizu, and K. Y. Terada, "Lynch Syndrome in patients with clear cell and endometrioid cancers of the ovary" Gynecologic Oncology, vol. 135, no. 1, pp. 81-84, 2014
35. Q. Wang, C. Lasset, F. Desseigne et al., "Neurofibromatosis and early onset of cancers in hMLH1-deficient children" Cancer Research, vol. 59, no. 2, pp. 294-297, 1999
36. D. Guillotin and S. A. Martin, "Exploiting DNA mismatch repair deficiency as a therapeutic strategy" Experimental Cell Research, vol. 329, no. 1, pp. 110-115, 2014
37. R. F. Souza, R. Appel, J. Yin et al., "Microsatellite instability in the insulin-like growth factor II receptor gene in gastrointestinal tumours" Nature Genetics, vol. 14, no. 3, pp. 255-257, 1996
38. N. Rampino, H. Yamamoto, Y. Ionov et al., "Somatic frameshift mutations in theBAXgene in coloncancers of themicrosatellite mutator phenotype" Science, vol. 275, no. 5302, pp. 967-969, 1997
39. Z. Ketabi, K. Bartuma, I. Bernstein et al., "Ovarian cancer linked to lynch syndrome typically presents as early-onset, non-serous epithelial tumors"GynecologicOncology, vol. 121, no. 3, pp. 462-465, 2011
40. A. M. Ferreira, H. Westers, S. Sousa et al., "Mononucleotide precedes dinucleotide repeat instability during colorectal tumour development in Lynch syndrome patients" Journal of Pathology, vol. 219, no. 1, pp. 96-102, 2009
41. A. Niskakoski, S. Kaur, L. Renkonen-Sinisalo et al., "Distinct molecular profiles in Lynch syndrome-Associated and sporadic ovarian carcinomas" International Journal of Cancer, vol. 133, no. 11, pp. 2596-2608, 2013
42. K. D. Steffensen, M. Waldstr?, A. Grove, B. Lund, N. Pallisg ?ard, and A. Jakobsen, "Improved classification of epithelial ovarian cancer: results of 3 Danish cohorts" International Journal of Gynecological Cancer, vol. 21, no. 9, pp. 1592-1600, 2011
43. A. Abe, T. Minaguchi, H. Ochi et al., "PIK3CA overexpression is a possible prognostic factor for favorable survival in ovarian clear cell carcinoma" Human Pathology, vol. 44, no. 2, pp. 199-207, 2013
44. R. Sankila, L. A. Aaltonen, H. J. Jarvinen, and J.-P. Mecklin, "Better survival rates in patients with MLH1-Associated hereditary colorectal cancer" Gastroenterology, vol. 110, no. 3, pp. 682-687, 1996
45. W. M. Abdel-Rahman, M. Ollikainen, R. Kariola et al., "Comprehensive characterization of HNPCC-related colorectal cancers reveals striking molecular features in families with no germline mismatch repair gene mutations" Oncogene, vol. 24, no. 9, pp. 1542-1551, 2005
46. M. Ollikainen, A. Gylling, M. Puputti et al., "Patterns of PIK3CA alterations in familial colorectal and endometrial carcinoma" International Journal of Cancer, vol. 121, no. 4, pp. 915-920, 2007
47. K. Nakamura, K. Banno, M. Yanokura et al., "Featuresofovarian cancer in Lynch syndrome (review)" Molecular and Clinical Oncology, vol. 2, no. 6, pp. 909-916, 2014
48. J.-M. J?nsson, K. Bartuma, M. Dominguez-Valentin et al., "Distinct gene expression profiles in ovarian cancer linked to Lynch syndrome" Familial Cancer, vol. 13, no. 4, pp. 537-545, 2014
49. Cancer Genome Atlas Research Network, "Integrated genomic analyses of ovarian carcinoma" Nature, vol. 474, no. 7353, pp. 609-615, 2011
50. G. Singer, R. Oldt III, Y. Cohen et al., "Mutations in BRAF and KRAS characterize the development of low-grade ovarian serous carcinoma" Journal of the National Cancer Institute, vol. 95, no. 6, pp. 484-486, 2003
51. A. J. Levine, J. Momand, and C. A. Finlay, "The p53 tumour suppressor gene" Nature, vol. 351, no. 6326, pp. 453-456, 1991
52. A. Petitjean, E. Mathe, S. Kato et al., "Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons fromrecent developments in the IARCTP53 database" Human Mutation, vol. 28, no. 6, pp. 622-629, 2007
53. D. P. Lane, "Cancer. p53, guardian of the genome" Nature, vol. 358, no. 6381, pp. 15-16, 1992
54. U. Tabori, B. Baskin, M. Shago et al., "Universal poor survival in children with medulloblastoma harboring somatic TP53 mutations" Journal of Clinical Oncology, vol. 28, no. 8, pp. 1345-1350, 2010
55. M. Olivier, A. Langer?, P. Carrieri et al., "The clinical value of somatic TP53 gene mutations in 1, 794 patients with breast cancer" Clinical Cancer Research, vol. 12, no. 4, pp. 1157-1167, 2006
56. L. Fern?ndez-Cuesta, C. Oakman, P. Falagan-Lotsch et al., "Prognostic and predictive value of TP53 mutations in nodepositive breast cancer patients treated with anthracycline-or anthracycline/taxane-based adjuvant therapy: results from the BIG 02-98 phase III trial" Breast Cancer Research, vol. 14, no. 3, article R70, 2012
57. F. P. Li and J. F. Fraumeni Jr., "Rhabdomyosarcoma in children: epidemiologic study and identification of a familial cancer syndrome" Journal of the National Cancer Institute, vol. 43, no. 6, pp. 1365-1373, 1969
58. K. D. Gonzalez, K. A. Noltner, C. H. Buzin et al., "Beyond li fraumeni syndrome: clinical characteristics of families with p53 germline mutations" Journal of Clinical Oncology, vol. 27, no. 8, pp. 1250-1256, 2009
59. J. M. Varley, D. G. R. Evans, and J. M. Birch, "Li-Fraumeni syndrome-A molecular and clinical review" British Journal of Cancer, vol. 76, no. 1, pp. 1-14, 1997
60. M. Hisada, J. E. Garber, C. Y. Fung, J. F. Fraumeni Jr., and F. P. Li, "Multiple primary cancers in families with Li-Fraumeni syndrome" Journal of the National Cancer Institute, vol. 90, no. 8, pp. 606-611, 1998
61. N. Izawa, S. Matsumoto, J. Manabe et al., "A Japanese patient with Li-Fraumeni syndrome who had nine primary malignancies associated with a germline mutation of the p53 tumorsuppressor gene" International Journal of ClinicalOncology, vol. 13, no. 1, pp. 78-82, 2008
62. A. D. Sorrell, C. R. Espenschied, J. O. Culver, and J. N. Weitzel, "Tumor protein p53 (TP53) testing and li-fraumeni syndrome: current status of clinical applications and future directions" Molecular Diagnosis andTherapy, vol. 17, no. 1, pp. 31-47, 2013
63. M. Olivier, D. E. Goldgar, N. Sodha et al., "Li-fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype" Cancer Research, vol. 63, no. 20, pp. 6643-6650, 2003
64. S. Seal, D. Thompson, A. Renwick et al., "Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles" Nature Genetics, vol. 38, no. 11, pp. 1239-1241, 2006
65. N. Rahman, S. Seal, D. Thompson et al., "PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene" Nature Genetics, vol. 39, no. 2, pp. 165-167, 2007
66. A. R. Venkitaraman, "A growing network of cancersusceptibility genes"The New England Journal of Medicine, vol. 348, no. 19, pp. 1917-1919, 2003
67. K. Gudmundsdottir and A. Ashworth, "The roles of BRCA1 and BRCA2 and associated proteins in the maintenance of genomic stability" Oncogene, vol. 25, no. 43, pp. 5864-5874, 2006
68. B. J. Orelli andD.K. Bishop, "BRCA2 and homologous recombination" Breast Cancer Research, vol. 3, no. 5, pp. 294-298, 2001
69. J. Zhang, "The role of BRCA1 in homologous recombination repair in response to replication stress: significance in tumorigenesis and cancer therapy" Cell & Bioscience, vol. 3, no. 1, article 11, 2013
70. M. R. Lieber, J. Gu, H. Lu, N. Shimazaki, and A. G. Tsai, "Nonhomologous DNA end joining (NHEJ) and chromosomal translocations in humans" Sub-Cellular Biochemistry, vol. 50, pp. 279-296, 2010
71. A. Ashworth, "A synthetic lethal therapeutic approach: poly(ADP) ribose polymerase inhibitors for the treatment of cancers deficient in DNA double-strand break repair" Journal of Clinical Oncology, vol. 26, no. 22, pp. 3785-3790, 2008
72. G. Rigakos and E. Razis, "BRCAness: finding the achilles heel in ovarian cancer" The Oncologist, vol. 17, no. 7, pp. 956-962, 2012
73. D. S. P. Tan, C. Rothermundt, K. Thomas et al., "'BRCAness' syndrome in ovarian cancer: a case-control study describing the clinical features and outcome of patients with epithelial ovarian cancer associated with BRCA1 and BRCA2 mutations" Journal of Clinical Oncology, vol. 26, no. 34, pp. 5530-5536, 2008
74. C. Loveday, C. Turnbull, E. Ramsay et al., "Germline mutations in RAD51D confer susceptibility to ovarian cancer" Nature Genetics, vol. 43, no. 9, pp. 879-882, 2011
75. A. Meindl, H. Hellebrand, C. Wiek et al., "Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene" Nature Genetics, vol. 42, no. 5, pp. 410-414, 2010
76. A. Blanco, S. Guti?rrez-Enruez, M. Santamarina et al., "RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families" Breast Cancer Research and Treatment, vol. 147, no. 1, pp. 133-143, 2014
77. N. Poumpouridou and C. Kroupis, "Hereditary breast cancer: beyondBRCAgenetic analysis; PALB2 emerges" Clinical Chemistry and Laboratory Medicine, vol. 50, no. 3, pp. 423-434, 2012
78. J. Szymanska-Pasternak, A. Szymanska, K. Medrek et al., "CHEK2 variants predispose to benign, borderline and lowgrade invasive ovarian tumors" Gynecologic Oncology, vol. 102, no. 3, pp. 429-431, 2006
79. B. E. Baysal, J. A. DeLoia, J. E. Willett-Brozick et al., "Analysis of CHEK2 gene for ovarian cancer susceptibility" Gynecologic Oncology, vol. 95, no. 1, pp. 62-69, 2004
80. N. Y. Krylova, D. N. Ponomariova, N. Y. Sherina et al., "CHEK2 1100 delC mutation in Russian ovarian cancer patients" Hereditary Cancer in Clinical Practice, vol. 5, no. 3, pp. 153-156, 2007
81. G. S. Ow, A. V. Ivshina, G. Fuentes, and V. A. Kuznetsov, "Identification of two poorly prognosed ovarian carcinoma subtypes associated with CHEK2 germline mutation and non-CHEK2 somatic mutation gene signatures" Cell Cycle, vol. 13, no. 14, pp. 2262-2280, 2014
82. K. Heikkinen, S.-M. Karppinen, Y. Soini, M. M?kinen, and R. Winqvist, "Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility" Journal ofMedical Genetics, vol. 40, no. 12, article e131, 2003
83. M. Ratajska, E. Antoszewska, A. Piskorz et al., "Cancer predisposing BARD1 mutations in breast-ovarian cancer families" Breast Cancer Research and Treatment, vol. 131, no. 1, pp. 89-97, 2012
84. A. Toss, F. Sebastiani, E. Razzaboni et al., "Chemoprevention strategies for high risk women" Current Bioactive Compounds, vol. 8, no. 1, pp. 86-93, 2012
85. E. Razzaboni, A. Toss, L. Cortesi et al., "Acceptability and adherence in a chemoprevention trial among women at increased risk for breast cancer attending the modena familial breast and ovarian cancer center (Italy)" The Breast Journal, vol. 19, no. 1, pp. 10-21, 2013
86. L. Cortesi, E. Razzaboni, A. Toss et al., "A rapid genetic counselling and testing in newly diagnosed breast cancer is associated with high rate of risk-reducing mastectomy in BRCA1/2-positive Italian women" Annals of Oncology, vol. 25, no. 1, pp. 57-63, 2013
87. S. Heymann, S. Delaloge, A. Rahal et al., "Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome" Radiation Oncology, vol. 5, no. 1, article 104, 2010
88. J. Ledermann, P. Harter, C. Gourley et al., "Olaparib maintenance therapy in patients with platinum-sensitive relapsed serous ovarian cancer: a preplanned retrospective analysis of outcomes by BRCA status in a randomised phase 2 trial" The Lancet Oncology, vol. 15, no. 8, pp. 852-861, 2014
89. L. Cast?ra, S. Krieger, A. Rousselin et al., "Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes" European Journal of Human Genetics, vol. 22, no. 11, pp. 1305-1313, 2014
90. N. Tung, C. Battelli, B. Allen et al., "Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel" Cancer, vol. 121, no. 1, pp. 25-33, 2015
91. A. Ruiz, G. Llort, C. Yag?e et al., "Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing" BioMed Research International, vol. 2014, Article ID 542541, 8 pages, 2014
92. T. S. Frank, A. M. Deffenbaugh, J. E. Reid et al., "Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10, 000 individuals" Journal of Clinical Oncology, vol. 20, no. 6, pp. 1480-1490, 2002
93. F. S. Hilbers, M. P. Vreeswijk, C. J. van Asperen, and P. Devilee, "The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation? Clinical Genetics, vol. 84, no. 5, pp. 407-414, 2013
94. I. R. Rainville and H. Q. Rana, "Next-generation sequencing for inherited breast cancer risk: counseling through the complexity topical collection on breast cancer" Current Oncology Reports, vol. 16, no. 3, article 371, 2014