|
1
|
Prokopcova J, Kleibl Z, Banwell CM and
Pohlreich P: The role of ATM in breast cancer development. Breast
Cancer Res Treat. 104:121–128. 2007.PubMed/NCBI View Article : Google Scholar
|
|
2
|
Corso G, Montagna G, Figueiredo J, La
Vecchia C, Fumagalli Romario U, Fernandes MS, Seixas S, Roviello F,
Trovato C, Guerini-Rocco E, et al: Hereditary gastric and breast
cancer syndromes related to CDH1 germline mutation: A
multidisciplinary clinical review. Cancers (Basel).
12(1598)2020.PubMed/NCBI View Article : Google Scholar
|
|
3
|
Cybulski C, Wokołorczyk D, Jakubowska A,
Huzarski T, Byrski T, Gronwald J, Masojć B, Deebniak T, Górski B,
Blecharz P, et al: Risk of breast cancer in women with a CHEK2
mutation with and without a family history of breast cancer. J Clin
Oncol. 29:3747–3752. 2011.PubMed/NCBI View Article : Google Scholar
|
|
4
|
Evans MK and Longo DL: PALB2 mutations and
breast-cancer risk. N Engl J Med. 371:566–568. 2014.PubMed/NCBI View Article : Google Scholar
|
|
5
|
Tan MH, Mester JL, Ngeow J, Rybicki LA,
Orloff MS and Eng Ch: Lifetime cancer risks in individuals with
germline PTEN mutations. Clin Cancer Res. 18:400–407.
2012.PubMed/NCBI View Article : Google Scholar
|
|
6
|
Lim W, Olschwang S, Keller JJ, Westerman
AM, Menko FH, Boardman LA, Scott RJ, Trimbath J, Giardiello FM,
Gruber SB, et al: Relative frequency and morphology of cancers in
STK11 mutation carriers. Gastroenterology. 126:1788–1794.
2004.PubMed/NCBI View Article : Google Scholar
|
|
7
|
Schon K and Tischkowitz M: Clinical
implications of germline mutations in breast cancer: TP53. Breast
Cancer Res Treat. 167:417–423. 2018.PubMed/NCBI View Article : Google Scholar
|
|
8
|
Practice bulletin No. 182 summary.
Hereditary breast and ovarian cancer syndrome. Obstet Gynecol.
130:657–659. 2017.PubMed/NCBI View Article : Google Scholar
|
|
9
|
King MC, Marks JH and Mandell JB: New York
Breast Cancer Study Group. Breast and ovarian cancer risks due to
inherited mutations in BRCA1 and BRCA2. Science. 302:643–646.
2003.PubMed/NCBI View Article : Google Scholar
|
|
10
|
Toss A, Tomasello Ch, Razzaboni E, Contu
G, Grandi G, Cagnacci A, Schilder RJ and Cortesi L: Hereditary
ovarian cancer: Not only BRCA 1 and 2 genes. Biomed Res Int.
2015(341723)2015.PubMed/NCBI View Article : Google Scholar
|
|
11
|
Cheon JY, Mozersky J and Cook-Deegan R:
Variants of uncertain significance in BRCA: A harbinger of ethical
and policy issues to come? Genome Med. 6(121)2014.PubMed/NCBI View Article : Google Scholar
|
|
12
|
Radice P, De Summa S, Caleca L and Tommasi
S: Unclassified variants in BRCA genes: Guidelines for
interpretation. Ann Oncol. 22 (Suppl 1):i18–i23. 2011.PubMed/NCBI View Article : Google Scholar
|
|
13
|
Lindor NM, Goldgar DE, Tavtigian SV, Plon
SE and Couch FJ: BRCA1/2 sequence variants of uncertain
significance: A primer for providers to assist in discussions and
in medical management. Oncologist. 18:518–524. 2013.PubMed/NCBI View Article : Google Scholar
|
|
14
|
Richards S, Aziz N, Bale S, Bick D, Das S,
Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al:
Standards and guidelines for the interpretation of sequence
variants: A joint consensus recommendation of the American college
of medical genetics and genomics and the associa-tion for molecular
pathology. Genet Med. 17:405–424. 2015.PubMed/NCBI View Article : Google Scholar
|
|
15
|
Bittar CM, Vieira IA, Sabato CS, Andreis
TF, Alemar B, Artigalás O, Galvão HCR, Macedo GS, Palmero EI and
Ashton-Prolla P: TP53 variants of uncertain significance:
Increasing challenges in variant interpretation and genetic
counseling. Fam Cancer. 18:451–456. 2019.PubMed/NCBI View Article : Google Scholar
|
|
16
|
Han FF, Guo CL and Liu LH: The effect of
CHEK2 variant I157T on cancer susceptibility: Evidence from a
meta-analysis. DNA Cell Biol. 32:329–335. 2013.PubMed/NCBI View Article : Google Scholar
|
|
17
|
Boonen RACM, Vreeswijk MPG and van Attikum
H: Functional characterization of PALB2 variants of uncertain
significance: Toward cancer risk and therapy response prediction.
Front Mol Biosci. 7(169)2020.PubMed/NCBI View Article : Google Scholar
|
|
18
|
Abdulrahman AA, Heintzelman RC, Corbman M
and Garcia FU: Invasive breast carcinomas with ATM gene variants of
uncertain significance share distinct histopathologic features.
Breast J. 24:291–297. 2018.PubMed/NCBI View Article : Google Scholar
|
|
19
|
Chern JY, Lee SS, Frey MK, Lee J and Blank
SV: The influence of BRCA variants of unknown significance on
cancer risk management decision-making. J Gynecol Oncol.
30(e60)2019.PubMed/NCBI View Article : Google Scholar
|
|
20
|
Choi MC: Clinical significance of variants
of unknown significances in BRCA genes. J Gynecol Oncol.
30(e80)2019.PubMed/NCBI View Article : Google Scholar
|
|
21
|
NCCN Clinical Practice Guidelines in
Oncology (NCCN Guidelines®). Genetic/familial high-risk
assessment: Breast and ovarian. Version 3.2019, 2019.
|
|
22
|
Hansen NT, Brunak S and Altman RB:
Generating genome-scale candidate gene lists for pharmacogenomics.
Clin Pharmacol Ther. 86:183–189. 2009.PubMed/NCBI View Article : Google Scholar
|
|
23
|
Borg Å, Haile RW, Malone KE, Capanu M,
Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, et
al: Characterization of BRCA1 and BRCA2 deleterious mutations and
variants of unknown clinical significance in unilateral and
bilateral breast cancer: The WECARE study. Hum Mutat.
31:E1200–E1240. 2010.PubMed/NCBI View Article : Google Scholar
|
|
24
|
Stegel V, Krajc M, Zgajnar J, Teugels E,
De Grève J, Hočevar M and Novaković S: The occurrence of germline
BRCA1 and BRCA2 sequence alterations in Slovenian population. BMC
Med Genet. 12(9)2011.PubMed/NCBI View Article : Google Scholar
|
|
25
|
Kluska A, Balabas A, Paziewska A, Kulecka
M, Nowakowska D, Mikula M and Ostrowski J: New recurrent BRCA1/2
mutations in Polish patients with familial breast/ovarian cancer
detected by next generation sequencing. BMC Med Genomics.
8(19)2015.PubMed/NCBI View Article : Google Scholar
|
|
26
|
Zhang J, Walsh MF, Wu G, Edmonson MN,
Gruber TA, Easton J, Hedges D, Ma X, Zhou X, Yergeau DA, et al:
Germline mutations in predisposition genes in pediatric cancer. N
Engl J Med. 373:2336–2346. 2015.PubMed/NCBI View Article : Google Scholar
|
|
27
|
Lek M, Karczewski KJ, Minikel EV, Samocha
KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ,
Cummings BB, et al: Analysis of protein-coding genetic variation in
60,706 humans. Nature. 536:285–291. 2016.PubMed/NCBI View Article : Google Scholar
|
|
28
|
Lu Ch, Xie M, Wendl MC, Wang J, McLellan
MD, Leiserson MD, Huang KL, Wyczalkowski MA, Jayasinghe R, Banerjee
T, et al: Patterns and functional implications of rare germline
variants across 12 cancer types. Nat Commun.
6(10086)2015.PubMed/NCBI View Article : Google Scholar
|
|
29
|
Byrski T, Gronwald J, Huzarski T,
Grzybowska E, Budryk M, Stawicka M, Mierzwa T, Szwiec M, Wiśniowski
R, Siolek M, et al: Response to neo-adjuvant chemotherapy in women
with BRCA1-positive breast cancers. Breast Cancer Res Treat.
108:289–296. 2008.PubMed/NCBI View Article : Google Scholar
|
|
30
|
Kirk R: Surgical oncology: Cancer risk
reduction in BRCA mutation carriers. Nat Rev Clin Oncol.
7(609)2010.PubMed/NCBI View Article : Google Scholar
|
|
31
|
Chen H, Wu J, Zhang Z, Tang Y and Li X,
Liu S, Cao S and Li X: Association between BRCA status and
triple-negative breast cancer: A meta-analysis. Front Pharmacol.
9(909)2018.PubMed/NCBI View Article : Google Scholar
|
