1
|
Stenehjem DD, Telford C, Unni SK, Bauer H,
Sainski A, Deka R, Schauerhamer MB, Ye X, Tak CR, Ma J, et al: BRCA
testing and outcomes in women with breast cancer. Breast Cancer Res
Treat. 186:839–850. 2021. View Article : Google Scholar : PubMed/NCBI
|
2
|
Ford D, Easton DF, Bishop DT, Narod SA and
Goldgar DE: Risks of cancer in BRCA1-mutation carriers. Breast
cancer linkage consortium. Lancet. 343:692–695. 1994. View Article : Google Scholar : PubMed/NCBI
|
3
|
Miki Y, Swensen J, Shattuck-Eidens D,
Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM,
Ding W, et al: A strong candidate for the breast and ovarian cancer
susceptibility gene BRCA1. Science. 266:66–71. 1994. View Article : Google Scholar : PubMed/NCBI
|
4
|
Wooster R, Neuhausen SL, Mangion J, Quirk
Y, Ford D, Collins N, Nguyen K, Seal S, Tran T, Averill D, et al:
Localization of a breast cancer susceptibility gene, BRCA2, to
chromosome 13q12-13. Science. 265:2088–2090. 1994. View Article : Google Scholar : PubMed/NCBI
|
5
|
Rebbeck TR, Friebel TM, Mitra N, Wan F,
Chen S, Andrulis IL, Apostolou P, Arnold N, Arun BK, Barrowdale D,
et al: Inheritance of deleterious mutations at both BRCA1 and BRCA2
in an international sample of 32,295 women. Breast Cancer Res.
18:1122016. View Article : Google Scholar : PubMed/NCBI
|
6
|
Lavie O, Narod S, Lejbkowicz F, Dishon S,
Goldberg Y, Gemer O and Rennert G: Double heterozygosity in the
BRCA1 and BRCA2 genes in the Jewish population. Ann Oncol.
22:964–966. 2011. View Article : Google Scholar : PubMed/NCBI
|
7
|
Meynard G, Mansi L, Lebahar P, Villanueva
C, Klajer E, Calcagno F, Vivalta A, Chaix M, Collonge-Rame MA,
Populaire C, et al: First description of a double heterozygosity
for BRCA1 and BRCA2 pathogenic variants in a French metastatic
breast cancer patient: A case report. Oncol Rep. 37:1573–1578.
2017. View Article : Google Scholar : PubMed/NCBI
|
8
|
Friedman E, Bar-Sade Bruchim R, Kruglikova
A, Risel S, Levy-Lahad E, Halle D, Bar-On E, Gershoni-Baruch R,
Dagan E, Kepten I, et al: Double heterozygotes for the Ashkenazi
founder mutations in BRCA1 and BRCA2 genes. Am J Hum Genet.
63:1224–1227. 1998. View
Article : Google Scholar : PubMed/NCBI
|
9
|
No authors listed. Olaparib for metastatic
breast cancer in patients with a germline BRCA mutation. N Engl J
Med. 377:17002017. View Article : Google Scholar
|
10
|
Moore K, Colombo N, Scambia G, Kim BG,
Oaknin A, Friedlander M, Lisyanskaya A, Floquet A, Leary A, Sonke
GS, et al: Maintenance olaparib in patients with newly diagnosed
advanced ovarian cancer. N Engl J Med. 379:2495–2505. 2018.
View Article : Google Scholar : PubMed/NCBI
|
11
|
Wen L, Li X, Shi J, Zhang S, Wang R, Yao M
and Guo J: Allele-specific expression mediates primary resistance
to poly (ADP-ribose) polymerase inhibitor therapy in a case of
BRCA1/2 double-germline mutant gastric cancer. J Int Med Res.
48:3000605198862262020. View Article : Google Scholar : PubMed/NCBI
|
12
|
Wooster R, Bignell G, Lancaster J, Swift
S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C and Micklem G:
Identification of the breast cancer susceptibility gene BRCA2.
Nature. 378:789–792. 1995. View
Article : Google Scholar : PubMed/NCBI
|
13
|
Lei H, Zhang M, Zhang L, Hemminki K, Wang
XJ and Chen T: Overview on population screening for carriers with
germline BRCA mutation in China. Front Oncol. 12:10023602022.
View Article : Google Scholar : PubMed/NCBI
|
14
|
Fernández-Lopez JC, Romero-Córdoba S,
Rebollar-Vega R, Alfaro-Ruiz LA, Jiménez-Morales S, Beltrán-Anaya
F, Arellano-Llamas R, Cedro-Tanda A, Rios-Romero M,
Ramirez-Florencio M, et al: Population and breast cancer patients'
analysis reveals the diversity of genomic variation of the BRCA
genes in the Mexican population. Hum Genomics. 13:32019. View Article : Google Scholar : PubMed/NCBI
|
15
|
Gabai-Kapara E, Lahad A, Kaufman B,
Friedman E, Segev S, Renbaum P, Beeri R, Gal M, Grinshpun-Cohen J,
Djemal K, et al: Population-based screening for breast and ovarian
cancer risk due to BRCA1 and BRCA2. Proc Natl Acad Sci USA.
111:14205–14210. 2014. View Article : Google Scholar : PubMed/NCBI
|
16
|
Manickam K, Buchanan AH, Schwartz MLB,
Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE,
Butry LM, et al: Exome sequencing-based screening for BRCA1/2
expected pathogenic variants among adult biobank participants. JAMA
Netw Open. 1:e1821402018. View Article : Google Scholar : PubMed/NCBI
|
17
|
Momozawa Y, Iwasaki Y, Parsons MT,
Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura
S, Sugano K, et al: Germline pathogenic variants of 11 breast
cancer genes in 7,051 Japanese patients and 11,241 controls. Nat
Commun. 9:40832018. View Article : Google Scholar : PubMed/NCBI
|
18
|
Maxwell KN, Domchek SM, Nathanson KL and
Robson ME: Population frequency of germline BRCA1/2 mutations. J
Clin Oncol. 34:4183–4185. 2016. View Article : Google Scholar : PubMed/NCBI
|
19
|
Smith A, Moran A, Boyd MC, Bulman M,
Shenton A, Smith L, Iddenden R, Woodward ER, Lalloo F, Maher ER and
Evans DGR: Phenocopies in BRCA1 and BRCA2 families: Evidence for
modifier genes and implications for screening. J Med Genet.
44:10–15. 2007. View Article : Google Scholar : PubMed/NCBI
|
20
|
Frank TS, Deffenbaugh AM, Reid JE, Hulick
M, Ward BE, Lingenfelter B, Gumpper KL, Scholl T, Tavtigian SV,
Pruss DR and Critchfield GC: Clinical characteristics of
individuals with germline mutations in BRCA1 and BRCA2: Analysis of
10,000 individuals. J Clin Oncol. 20:1480–1490. 2022. View Article : Google Scholar
|
21
|
Ramus SJ, Friedman LS, Gayther SA, Ponder
BA, Bobrow L, van der Looji M, Papp J and Olah E: A breast/ovarian
cancer patient with germline mutations in both BRCA1 and BRCA2. Nat
Genet. 15:14–15. 1997. View Article : Google Scholar : PubMed/NCBI
|
22
|
Liede A, Rehal P, Vesprini D, Jack E,
Abrahamson J and Narod SA: A breast cancer patient of Scottish
descent with germ-line mutations in BRCA1 and BRCA2. Am J Hum
Genet. 62:1543–1544. 1998. View
Article : Google Scholar : PubMed/NCBI
|
23
|
Caldes T, de la Hoya M, Tosar A, Sulleiro
S, Godino J, Ibañez D, Martin M, Perez-Segura P and Diaz-Rubio E: A
breast cancer family from Spain with germline mutations in both the
BRCA1 and BRCA2 genes. J Med Genet. 39:e442002. View Article : Google Scholar : PubMed/NCBI
|
24
|
Bell DW, Erban J, Sgroi DC and Haber DA:
Selective loss of heterozygosity in multiple breast cancers from a
carrier of mutations in both BRCA1 and BRCA2. Cancer Res.
62:2741–2743. 2002.PubMed/NCBI
|
25
|
Claus EB, Petruzella S, Matloff E and
Carter D: Prevalence of BRCA1 and BRCA2 mutations in women
diagnosed with ductal carcinoma in situ. JAMA. 293:964–969. 2005.
View Article : Google Scholar : PubMed/NCBI
|
26
|
Zuradelli M, Peissel B, Manoukian S,
Zaffaroni D, Barile M, Pensotti V, Cavallari U, Masci G, Mariette
F, Benski AC, et al: Four new cases of double heterozygosity for
BRCA1 and BRCA2 gene mutations: Clinical, pathological, and family
characteristics. Breast Cancer Res Treat. 124:251–258. 2010.
View Article : Google Scholar : PubMed/NCBI
|
27
|
Palmirotta R, Lovero D, Stucci LS,
Silvestris E, Quaresmini D, Cardascia A and Silvestris F: Double
heterozygosity for BRCA1 pathogenic variant and BRCA2 polymorphic
stop codon K3326X: A case report in a Southern Italian family. Int
J Mol Sci. 19:2852018. View Article : Google Scholar : PubMed/NCBI
|
28
|
Sugano K, Nakamura S, Ando J, Takayama S,
Kamata H, Sekiguchi I, Ubukata M, Kodama T, Arai M, Kasumi F, et
al: Cross-sectional analysis of germline BRCA1 and BRCA2 mutations
in Japanese patients suspected to have hereditary breast/ovarian
cancer. Cancer Sci. 99:1967–1976. 2008. View Article : Google Scholar : PubMed/NCBI
|
29
|
Nomizu T, Sakuma T, Yamada M, Matsuzaki M,
Katagata N, Watanabe F, Nihei M, Ishioka C, Takenoshita S and Abe
R: Three cases of kindred with familial breast cancer in which
carrier detection by BRCA gene testing was performed on family
members. Breast Cancer. 19:270–274. 2012. View Article : Google Scholar : PubMed/NCBI
|
30
|
Tobalina L, Armenia J, Irving E, O'Connor
MJ and Forment JV: A meta-analysis of reversion mutations in BRCA
genes identifies signatures of DNA end-joining repair mechanisms
driving therapy resistance. Ann Oncol. 32:103–112. 2021. View Article : Google Scholar : PubMed/NCBI
|
31
|
Jiang Z, Li J, Chen J, Liu Y, Wang K, Nie
J, Wang X, Hao C, Yin Y, Wang S, et al: Chinese society of clinical
oncology (CSCO) breast cancer guidelines 2022. Transl Breast Cancer
Res. 3:132022. View Article : Google Scholar
|
32
|
Robson ME, Tung N, Conte P, Im SA, Senkus
E, Xu B, Masuda N, Delaloge S, Li W, Armstrong A, et al: OlympiAD
final overall survival and tolerability results: Olaparib versus
chemotherapy treatment of physician's choice in patients with a
germline BRCA mutation and HER2-negative metastatic breast cancer.
Ann Oncol. 30:558–566. 2019. View Article : Google Scholar : PubMed/NCBI
|
33
|
Tutt A, Tovey H, Cheang MCU, Kernaghan S,
Kilburn L, Gazinska P, Owen J, Abraham J, Barrett S, Barrett-Lee P,
et al: Carboplatin in BRCA1/2-mutated and triple-negative breast
cancer BRCAness subgroups: The TNT trial. Nat Med. 24:628–637.
2018. View Article : Google Scholar : PubMed/NCBI
|
34
|
Spring LM, Wander SA, Andre F, Moy B,
Turner NC and Bardia A: Cyclin-dependent kinase 4 and 6 inhibitors
for hormone receptor-positive breast cancer: past, present, and
future. Lancet. 395:817–827. 2020. View Article : Google Scholar : PubMed/NCBI
|
35
|
Heidemann S, Fischer C, Engel C, Fischer
B, Harder L, Schlegelberger B, Niederacher D, Goecke TO, Doelken
SC, Dikow N, et al: Double heterozygosity for mutations in BRCA1
and BRCA2 in German breast cancer patients: Implications on test
strategies and clinical management. Breast Cancer Res Treat.
134:1229–1239. 2012. View Article : Google Scholar : PubMed/NCBI
|
36
|
Samadder NJ, Giridhar KV, Baffy N,
Riegert-Johnson D and Couch FJ: Hereditary cancer syndromes-A
primer on diagnosis and management: Part 1: Breast-ovarian cancer
syndromes. Mayo Clin Proc. 94:1084–1098. 2019. View Article : Google Scholar : PubMed/NCBI
|
37
|
Tung NM and Garber JE: BRCA1/2 testing:
Therapeutic implications for breast cancer management. Br J Cancer.
119:141–152. 2018. View Article : Google Scholar : PubMed/NCBI
|
38
|
Daly MB, Pilarski R, Berry M, Buys SS,
Farmer M, Friedman S, Garber JE, Kauff ND, Khan S, Klein C, et al:
NCCN guidelines insights: Genetic/familial high-risk assessment:
breast and ovarian, version 2.2017. J Natl Compr Canc Netw.
15:9–20.38. 2017.Robert M, Frenel JS, Gourmelon C, Patsouris A,
Augereau P and Campone M: Olaparib for the treatment of breast
cancer. Expert Opin Investig Drugs 26: 751–759, 2017. View Article : Google Scholar : PubMed/NCBI
|