BRCA 1/BRCA 2 PATHOGENIC/LIKELY PATHOGENIC
VARIANT PATIENTS WITH BREAST, OVARIAN,
AND OTHER CANCERS Osman K.1,*, Ahmet K.2, Hilmi T.3, İlker N.O.4, Ercan Ö.5, Devrim Ç.5, Murat S.1, Emre Ç.6,
İlhan H.6, Mustafa G.7, Yüksel Ü.7, Bahiddin Y.8, Cihan E.9, Mehmet Ali N. Ş.9, Emrah E.10,
Umut D.10, Zeynep O.11, Mehmet Ali K.12, Ali G.2, İvo G.2, Erkan Ö.2, Muhammet B. H.2,
Bülent E.2, Selma D.12, Sernaz U.2, Mahmut G.4, Hakan G.12, İrfan Ç.2 *Corresponding Author: Assoc. Prof. Osman Köstek, MD, Marmara University, School of Medicine,
Department of Medical Oncology Address: Marmara University, Basıbuyuk Campus, Maltepe,
Istanbul, Turkey. Email: osmankostek@hotmail.com, Telephone: +90 554 585 73 90 page: 5
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REFERENCES
1. A.K. Byrum, A. Vindigni, N. Mosammaparast, Defining
and Modulating ‘BRCAness’, Trends Cell Biol.
2019; 29(9): 740-751.
2. M.J. Khoury, W.G. Feero, D.A. Chambers, L.C.
Brody, N. Aziz, R.C. Green, A. Janssens, M.F. Murray,
L.L. Rodriguez, J.L. Rutter, S.D. Schully, D.M.
Winn, G.A. Mensah, A collaborative translational
research framework for evaluating and implementing
the appropriate use of human genome sequencing to
improve health, PLoS Med. 2018; 15(8): e1002631.
3. J.J. Grzymski, G. Elhanan, J.A. Morales Rosado,
E. Smith, K.A. Schlauch, R. Read, C. Rowan, N.
Slotnick, S. Dabe, W.J. Metcalf, B. Lipp, H. Reed,
L. Sharma, E. Levin, J. Kao, M. Rashkin, J. Bowes,
K. Dunaway, A. Slonim, N. Washington, M. Ferber,
A. Bolze, J.T. Lu, Population genetic screening efficiently
identifies carriers of autosomal dominant
diseases, Nat Med. 2020; 26(8): 1235-1239.
4. K.J. Karczewski, L.C. Francioli, G. Tiao, B.B. Cummings,
J. Alföldi, Q. Wang, R.L. Collins, K.M. Laricchia,
A. Ganna, D.P. Birnbaum, L.D. Gauthier, H.
Brand, M. Solomonson, N.A. Watts, D. Rhodes, M.
Singer-Berk, E.M. England, E.G. Seaby, J.A. Kosmicki,
R.K. Walters, K. Tashman, Y. Farjoun, E.
Banks, T. Poterba, A. Wang, C. Seed, N. Whiffin, J.X.
Chong, K.E. Samocha, E. Pierce-Hoffman, Z. Zappala,
A.H. O’Donnell-Luria, E.V. Minikel, B. Weisburd,
M. Lek, J.S. Ware, C. Vittal, I.M. Armean, L. Bergelson,
K. Cibulskis, K.M. Connolly, M. Covarrubias, S.
Donnelly, S. Ferriera, S. Gabriel, J. Gentry, N. Gupta,
T. Jeandet, D. Kaplan, C. Llanwarne, R. Munshi,
S. Novod, N. Petrillo, D. Roazen, V. Ruano-Rubio,
A. Saltzman, M. Schleicher, J. Soto, K. Tibbetts, C.
Tolonen, G. Wade, M.E. Talkowski, B.M. Neale, M.J.
Daly, D.G. MacArthur, The mutational constraint
spectrum quantified from variation in 141,456 humans,
Nature. 2020; 581(7809): 434-443. 5. S.T. Sherry, M.H. Ward, M. Kholodov, J. Baker,
L. Phan, E.M. Smigielski, K. Sirotkin, dbSNP: the
NCBI database of genetic variation, Nucleic Acids
Res. 2001; 29(1): 308-11.
6. M.J. Landrum, S. Chitipiralla, G.R. Brown, C. Chen,
B. Gu, J. Hart, D. Hoffman, W. Jang, K. Kaur, C. Liu,
V. Lyoshin, Z. Maddipatla, R. Maiti, J. Mitchell, N.
O’Leary, G.R. Riley, W. Shi, G. Zhou, V. Schneider,
D. Maglott, J.B. Holmes, B.L. Kattman, ClinVar:
improvements to accessing data, Nucleic Acids Res.
2020; 48(D1): D835-d844
7. P.D. Stenson, M. Mort, E.V. Ball, M. Chapman, K.
Evans, L. Azevedo, M. Hayden, S. Heywood, D.S.
Millar, A.D. Phillips, D.N. Cooper, The Human Gene
Mutation Database (HGMD(®)): optimizing its use in
a clinical diagnostic or research setting, Hum Genet.
2020; 139(10): 1197-1207.
8. S. Richards, N. Aziz, S. Bale, D. Bick, S. Das, J.
Gastier-Foster, W.W. Grody, M. Hegde, E. Lyon, E.
Spector, K. Voelkerding, H.L. Rehm, Standards and
guidelines for the interpretation of sequence variants:
a joint consensus recommendation of the American
College of Medical Genetics and Genomics and the
Association for Molecular Pathology, Genet Med.
2015; 17(5): 405-24.
9. J. O’Shaughnessy, C. Brezden-Masley, M. Cazzaniga,
T. Dalvi, G. Walker, J. Bennett, S. Ohsumi,
Prevalence of germline BRCA mutations in HER2-
negative metastatic breast cancer: global results from
the real-world, observational BREAKOUT study,
Breast Cancer Res. 2020; 22(1): 114.
10. K.B. Kuchenbaecker, J.L. Hopper, D.R. Barnes, K.A.
Phillips, T.M. Mooij, M.J. Roos-Blom, S. Jervis, F.E.
van Leeuwen, R.L. Milne, N. Andrieu, D.E. Goldgar,
M.B. Terry, M.A. Rookus, D.F. Easton, A.C. Antoniou,
L. McGuffog, D.G. Evans, D. Barrowdale, D.
Frost, J. Adlard, K.R. Ong, L. Izatt, M. Tischkowitz,
R. Eeles, R. Davidson, S. Hodgson, S. Ellis, C.
Nogues, C. Lasset, D. Stoppa-Lyonnet, J.P. Fricker, L.
Faivre, P. Berthet, M.J. Hooning, L.E. van der Kolk,
C.M. Kets, M.A. Adank, E.M. John, W.K. Chung,
I.L. Andrulis, M. Southey, M.B. Daly, S.S. Buys,
A. Osorio, C. Engel, K. Kast, R.K. Schmutzler, T.
Caldes, A. Jakubowska, J. Simard, M.L. Friedlander,
S.A. McLachlan, E. Machackova, L. Foretova, Y.Y.
Tan, C.F. Singer, E. Olah, A.M. Gerdes, B. Arver, H.
Olsson, Risks of Breast, Ovarian, and Contralateral
Breast Cancer for BRCA1 and BRCA2 Mutation
Carriers, Jama. 2017; 317(23): 2402-2416.
11. M. Okano, T. Nomizu, K. Tachibana, M. Nagatsuka,
M. Matsuzaki, N. Katagata, T. Ohtake, S. Yokoyama,
M. Arai, S. Nakamura, The relationship between
BRCA-associated breast cancer and age factors: an
analysis of the Japanese HBOC consortium database,
J Hum Genet. 2021; 66(3): 307-314.
12. S. Chen, G. Parmigiani, Meta-analysis of BRCA1
and BRCA2 penetrance, J Clin Oncol 2007; 25(11):
1329-33.
13. V. Sunar, V. Korkmaz, V. Topcu, B. Cavdarli, Z. Arik,
B. Ozdal, Y.E. Ustun, Frequency of germline BRCA
1/BRCA 2 mutations and association with clinicopathological
characteristics in Turkish women with
epithelial ovarian cancer, Asia Pac J Clin Oncol. 2021.
14. A.L. Siu, Screening for Breast Cancer: U.S. Preventive
Services Task Force Recommendation Statement,
Ann Intern Med. 2016; 164(4): 279-96.
15. D.P. Atchley, C.T. Albarracin, A. Lopez, V. Valero,
C.I. Amos, A.M. Gonzalez-Angulo, G.N. Hortobagyi,
B.K. Arun, Clinical and pathologic characteristics of
patients with BRCA-positive and BRCA-negative
breast cancer, J Clin Oncol. 2008; 26(26): 4282-8.
16. E. Lee, R. McKean-Cowdin, H. Ma, D.V. Spicer, D.
Van Den Berg, L. Bernstein, G. Ursin, Characteristics
of triple-negative breast cancer in patients with
a BRCA1 mutation: results from a population-based
study of young women, J Clin Oncol. 2011; 29(33):
4373-80.
17. E.V. Høgdall, M. Ringsholt, C.K. Høgdall, I.J. Christensen,
J.S. Johansen, S.K. Kjaer, J. Blaakaer, L. Ostenfeld-
Møller, P.A. Price, L.H. Christensen, YKL-40
tissue expression and plasma levels in patients with
ovarian cancer, BMC Cancer 9 2009; 8.
18. C. Hu, E.C. Polley, S. Yadav, J. Lilyquist, H. Shimelis,
J. Na, S.N. Hart, D.E. Goldgar, S. Shah, T. Pesaran,
J.S. Dolinsky, H. LaDuca, F.J. Couch, The Contribution
of Germline Predisposition Gene Mutations to
Clinical Subtypes of Invasive Breast Cancer From a
Clinical Genetic Testing Cohort, J Natl Cancer Inst.
2020; 112(12): 1231-1241.
19. E. Fountzilas , I. Konstantopoulou , A. Vagena , P.
Apostolou , C. Papadimitriou , C. Christodoulou, D.
Tryfonopoulos , K. Manousou, A. Delimitsou , M.
Papamentzelopoulou, G. Fountzilas , D. Yannoukakos
, F. Fostira, Pathology of BRCA1- and BRCA2-
associated Breast Cancers: Known and Less Known
Connections. Clin Breast Cancer.2020; 20(2): 152-59.
20. Y. Laitman, T.M Friebel, D. Yannoukakos, F. Fostira,
I. Konstantopoulou, G. Figlioli, B. Bonanni, S. Manoukian,
M. Zuradelli, C. Tondini, B. Pasini, P. Peterlongo
, D. Plaseska-Karanfilska, M. Jakimovska,
K. Majidzadeh , S. Zarinfam , M.A Loizidou , A. Hadjisavvas, K. Michailidou , K. Kyriacou, D. M Behar,
R. B Molho, P. Ganz, P. James , M.T Parsons, A.
Sallam , O.I Olopade , A. Seth, G. Chenevix-Trench ,
G. Leslie, L. McGuffog, M.J Marafie , A. Megarbane,
F. Al-Mulla, T.R Rebbeck , E. Friedman, The spectrum
of BRCA1 and BRCA2 pathogenic sequence
variants in Middle Eastern, North African, and South
European countries. Hum Mutat. 2019; 40(11): 1-23.
21]T. Mitamura, M. Sekine, M. Arai, Y. Shibata, M. Kato,
S. Yokoyama, H. Yamashita, H. Watari, I. Yabe, H.
Nomura, T. Enomoto, S. Nakamura, The disease sites
of female genital cancers of BRCA1/2-associated
hereditary breast and ovarian cancer: a retrospective
study, World J Surg Oncol. 2021; 19(1): 36.
22. M. Arts-de Jong, G.H. de Bock, C.J. van Asperen,
M.J. Mourits, J.A. de Hullu, C.M. Kets, Germline
BRCA 1/BRCA 2 mutation testing is indicated in
every patient with epithelial ovarian cancer: A systematic
review, Eur J Cancer. 2016; 61: 137-45.
23. S.R. Lakhani, S. Manek, F. Penault-Llorca, A. Flanagan,
L. Arnout, S. Merrett, L. McGuffog, D. Steele, P.
Devilee, J.G. Klijn, H. Meijers-Heijboer, P. Radice,
S. Pilotti, H. Nevanlinna, R. Butzow, H. Sobol, J.
Jacquemier, D.S. Lyonet, S.L. Neuhausen, B. Weber,
T. Wagner, R. Winqvist, Y.J. Bignon, F. Monti, F.
Schmitt, G. Lenoir, S. Seitz, U. Hamman, P. Pharoah,
G. Lane, B. Ponder, D.T. Bishop, D.F. Easton, Pathology
of ovarian cancers in BRCA1 and BRCA2
carriers, Clin Cancer Res. 2004; 10(7): 2473-81.
24. B.M. Norquist, M.I. Harrell, M.F. Brady, T. Walsh,
M.K. Lee, S. Gulsuner, S.S. Bernards, S. Casadei, Q.
Yi, R.A. Burger, J.K. Chan, S.A. Davidson, R.S. Mannel,
P.A. DiSilvestro, H.A. Lankes, N.C. Ramirez,
M.C. King, E.M. Swisher, M.J. Birrer, Inherited Mutations
in Women With Ovarian Carcinoma, JAMA
Oncol. 2016; 2(4): 482-90.
25. K.L. Bolton, G. Chenevix-Trench, C. Goh, S. Sadetzki,
S.J. Ramus, B.Y. Karlan, D. Lambrechts, E.
Despierre, D. Barrowdale, L. McGuffog, S. Healey,
D.F. Easton, O. Sinilnikova, J. Benítez, M.J. García,
S. Neuhausen, M.H. Gail, P. Hartge, S. Peock,
D. Frost, D.G. Evans, R. Eeles, A.K. Godwin, M.B.
Daly, A. Kwong, E.S. Ma, C. Lázaro, I. Blanco, M.
Montagna, E. D’Andrea, M.O. Nicoletto, S.E. Johnatty,
S.K. Kjær, A. Jensen, E. Høgdall, E.L. Goode, B.L.
Fridley, J.T. Loud, M.H. Greene, P.L. Mai, A. Chetrit,
F. Lubin, G. Hirsh-Yechezkel, G. Glendon, I.L. Andrulis,
A.E. Toland, L. Senter, M.E. Gore, C. Gourley,
C.O. Michie, H. Song, J. Tyrer, A.S. Whittemore, V.
McGuire, W. Sieh, U. Kristoffersson, H. Olsson, Å.
Borg, D.A. Levine, L. Steele, M.S. Beattie, S. Chan,
R.L. Nussbaum, K.B. Moysich, J. Gross, I. Cass, C.
Walsh, A.J. Li, R. Leuchter, O. Gordon, M. Garcia-
Closas, S.A. Gayther, S.J. Chanock, A.C. Antoniou,
P.D. Pharoah, Association between BRCA1 and
BRCA2 mutations and survival in women with invasive
epithelial ovarian cancer, Jama. 2012; 307(4):
382-90.
26. A. Chetrit, G. Hirsh-Yechezkel, Y. Ben-David, F.
Lubin, E. Friedman, S. Sadetzki, Effect of BRCA 1/
BRCA 2 mutations on long-term survival of patients
with invasive ovarian cancer: the national Israeli
study of ovarian cancer, J Clin Oncol. 2008; 26(1):
20-5.
27. D.S. Tan, C. Rothermundt, K. Thomas, E. Bancroft, R.
Eeles, S. Shanley, A. Ardern-Jones, A. Norman, S.B.
Kaye, M.E. Gore, “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, J Clin Oncol. 2008; 26(34): 5530-6.
28. D. Yang, S. Khan, Y. Sun, K. Hess, I. Shmulevich,
A.K. Sood, W. Zhang, Association of BRCA1 and
BRCA2 mutations with survival, chemotherapy sensitivity,
and gene mutator phenotype in patients with
ovarian cancer, Jama. 2011; 306(14): 1557-65.
29. C.C. Pritchard, J. Mateo, M.F. Walsh, N. De Sarkar,
W. Abida, H. Beltran, A. Garofalo, R. Gulati, S. Carreira,
R. Eeles, O. Elemento, M.A. Rubin, D. Robinson,
R. Lonigro, M. Hussain, A. Chinnaiyan, J.
Vinson, J. Filipenko, L. Garraway, M.E. Taplin, S.
AlDubayan, G.C. Han, M. Beightol, C. Morrissey,
B. Nghiem, H.H. Cheng, B. Montgomery, T. Walsh,
S. Casadei, M. Berger, L. Zhang, A. Zehir, J. Vijai,
H.I. Scher, C. Sawyers, N. Schultz, P.W. Kantoff,
D. Solit, M. Robson, E.M. Van Allen, K. Offit, J.
de Bono, P.S. Nelson, Inherited DNA-Repair Gene
Mutations in Men with Metastatic Prostate Cancer,
N Engl J Med. 2016; 375(5): 443-53.
30. E. Castro, C. Goh, D. Olmos, E. Saunders, D. Leongamornlert,
M. Tymrakiewicz, N. Mahmud, T.
Dadaev, K. Govindasami, M. Guy, E. Sawyer, R.
Wilkinson, A. Ardern-Jones, S. Ellis, D. Frost, S.
Peock, D.G. Evans, M. Tischkowitz, T. Cole, R. Davidson,
D. Eccles, C. Brewer, F. Douglas, M.E. Porteous,
A. Donaldson, H. Dorkins, L. Izatt, J. Cook,
S. Hodgson, M.J. Kennedy, L.E. Side, J. Eason, A.
Murray, A.C. Antoniou, D.F. Easton, Z. Kote-Jarai, R.
Eeles, Germline BRCA mutations are associated with
higher risk of nodal involvement, distant metastasis,
and poor survival outcomes in prostate cancer, J Clin
Oncol. 2013; 31(14): 1748-57.
31. R. Na, S.L. Zheng, M. Han, H. Yu, D. Jiang, S.
Shah, C.M. Ewing, L. Zhang, K. Novakovic, J. Petkewicz,
K. Gulukota, D.L. Helseth, Jr., M. Quinn,
E. Humphries, K.E. Wiley, S.D. Isaacs, Y. Wu, X.
Liu, N. Zhang, C.H. Wang, J. Khandekar, P.J. Hulick,
D.H. Shevrin, K.A. Cooney, Z. Shen, A.W. Partin,
H.B. Carter, M.A. Carducci, M.A. Eisenberger, S.R.
Denmeade, M. McGuire, P.C. Walsh, B.T. Helfand,
C.B. Brendler, Q. Ding, J. Xu, W.B. Isaacs, Germline
Mutations in ATM and BRCA 1/BRCA 2 Distinguish
Risk for Lethal and Indolent Prostate Cancer and are
Associated with Early Age at Death, Eur Urol. 2017;
71(5): 740-747.
32. E. Castro, N. Romero-Laorden, A. Del Pozo, R. Lozano,
A. Medina, J. Puente, J.M. Piulats, D. Lorente,
M.I. Saez, R. Morales-Barrera, E. Gonzalez-Billalabeitia,
Y. Cendón, I. García-Carbonero, P. Borrega,
M.J. Mendez Vidal, A. Montesa, P. Nombela, E.
Fernández-Parra, A. Gonzalez Del Alba, J.C. Villa-
Guzmán, K. Ibáñez, A. Rodriguez-Vida, L. Magraner-
Pardo, B. Perez-Valderrama, E. Vallespín, E. Gallardo,
S. Vazquez, C.C. Pritchard, P. Lapunzina, D.
Olmos, PROREPAIR-B: A Prospective Cohort Study
of the Impact of Germline DNA Repair Mutations on
the Outcomes of Patients With Metastatic Castration-
Resistant Prostate Cancer, J Clin Oncol. 2019; 37(6):
490-503.
33. J. Mateo, S. Carreira, S. Sandhu, S. Miranda, H. Mossop,
R. Perez-Lopez, D. Nava Rodrigues, D. Robinson,
A. Omlin, N. Tunariu, G. Boysen, N. Porta,
P. Flohr, A. Gillman, I. Figueiredo, C. Paulding, G.
Seed, S. Jain, C. Ralph, A. Protheroe, S. Hussain,
R. Jones, T. Elliott, U. McGovern, D. Bianchini, J.
Goodall, Z. Zafeiriou, C.T. Williamson, R. Ferraldeschi,
R. Riisnaes, B. Ebbs, G. Fowler, D. Roda,
W. Yuan, Y.M. Wu, X. Cao, R. Brough, H. Pemberton,
R. A’Hern, A. Swain, L.P. Kunju, R. Eeles, G.
Attard, C.J. Lord, A. Ashworth, M.A. Rubin, K.E.
Knudsen, F.Y. Feng, A.M. Chinnaiyan, E. Hall, J.S.
de Bono, DNA-Repair Defects and Olaparib in Metastatic
Prostate Cancer, N Engl J Med. 2015; 373(18):
1697-708.
34. J. Mateo, N. Porta, D. Bianchini, U. McGovern,
T. Elliott, R. Jones, I. Syndikus, C. Ralph, S. Jain,
M. Varughese, O. Parikh, S. Crabb, A. Robinson,
D. McLaren, A. Birtle, J. Tanguay, S. Miranda, I.
Figueiredo, G. Seed, C. Bertan, P. Flohr, B. Ebbs,
P. Rescigno, G. Fowler, A. Ferreira, R. Riisnaes,
R. Pereira, A. Curcean, R. Chandler, M. Clarke, B.
Gurel, M. Crespo, D. Nava Rodrigues, S. Sandhu,
A. Espinasse, P. Chatfield, N. Tunariu, W. Yuan, E.
Hall, S. Carreira, J.S. de Bono, Olaparib in patients
with metastatic castration-resistant prostate cancer
with DNA repair gene aberrations (TOPARP-B): a
multicentre, open-label, randomised, phase 2 trial,
Lancet Oncol. 2020; 21(1): 162-174.
35. J. de Bono, J. Mateo, K. Fizazi, F. Saad, N. Shore, S.
Sandhu, K.N. Chi, O. Sartor, N. Agarwal, D. Olmos,
A. Thiery-Vuillemin, P. Twardowski, N. Mehra, C.
Goessl, J. Kang, J. Burgents, W. Wu, A. Kohlmann,
C.A. Adelman, M. Hussain, Olaparib for Metastatic
Castration-Resistant Prostate Cancer, N Engl J Med.
2020; 382(22): 2091-2102.
36. D.R. Berthold, G.R. Pond, F. Soban, R. de Wit, M.
Eisenberger, I.F. Tannock, Docetaxel plus prednisone
or mitoxantrone plus prednisone for advanced prostate
cancer: updated survival in the TAX 327 study,
J Clin Oncol. 2008; 26(2): 242-5.
37. K.M. Murphy, K.A. Brune, C. Griffin, J.E. Sollenberger,
G.M. Petersen, R. Bansal, R.H. Hruban,
S.E. Kern, Evaluation of candidate genes MAP2K4,
MADH4, ACVR1B, and BRCA2 in familial pancreatic
cancer: deleterious BRCA2 mutations in 17%,
Cancer Res. 2002; 62(13): 3789-93.
38. Cancer risks in BRCA2 mutation carriers, J Natl Cancer
Inst. 1999; 91(15): 1310-6.
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