Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?

Average Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 Studies

Antoniou, A., Pharoah, P. D. P., Narod, S., Risch, H. A., Eyfjord, J. E., Hopper, J. L., Loman, N., Olsson, H., Johannsson, O., Borg, Å., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/375033 · Cited by 3,680 · see citing works

Genome-wide association study identifies novel breast cancer susceptibility loci

Easton, D. F., Pooley, K. A., Dunning, A. M., Pharoah, P. D. P., Thompson, D., Ballinger, D. G., Struewing, J. P., Morrison, J., Field, H., Luben, R., et al. (2007) · Nature · doi:10.1038/nature05887 · Cited by 2,319 · see citing works

A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer

Hunter, D. J., Kraft, P., Jacobs, K. B., Cox, D. G., Yeager, M., Hankinson, S. E., Wacholder, S., Wang, Z., Welch, R. A., Hutchinson, A. A., et al. (2007) · Nature Genetics · doi:10.1038/ng2075 · Cited by 1,463 · see citing works

Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58 209 women with breast cancer and 101 986 women without the disease

(2001) · The Lancet · doi:10.1016/s0140-6736(01)06524-2 · Cited by 1,143 · see citing works

Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations

The CHEK2-Breast Cancer Consortium (2002) · Nature Genetics · doi:10.1038/ng879 · Cited by 1,104 · see citing works

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

Rahman, N., Seal, S., Thompson, D. J., Kelly, P. F., Renwick, A., Elliott, A., Reid, S., Spanova, K., Barfoot, R., Chagtai, T., et al. (2006) · Nature Genetics · doi:10.1038/ng1959 · Cited by 1,002 · see citing works

Polygenic susceptibility to breast cancer and implications for prevention

Pharoah, P. D. P., Antoniou, A. C., Bobrow, M., Zimmern, R. L., Easton, D. F., & Ponder, B. A. J. (2002) · Nature Genetics · doi:10.1038/ng853 · Cited by 898 · see citing works

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

The Breast Cancer Susceptibility Collaboration (UK), Seal, S., Thompson, D., Renwick, A., Elliott, A., Kelly, P., Barfoot, R., Chagtai, T., Jayatilake, H., Ahmed, M., et al. (2006) · Nature Genetics · doi:10.1038/ng1902 · Cited by 746 · see citing works

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

Renwick, A., Thompson, D. J., Seal, S., Kelly, P. F., Chagtai, T., Ahmed, M., North, B. V., Jayatilake, H., Barfoot, R., Spanova, K., et al. (2006) · Nature Genetics · doi:10.1038/ng1837 · Cited by 743 · see citing works

A common coding variant in CASP8 is associated with breast cancer risk

Cox, A., Dunning, A. M., García‐Closas, M., Balasubramanian, S. P., Reed, M., Pooley, K. A., Scollen, S., Baynes, C., Ponder, B. A. J., Chanock, S. J., et al. (2007) · Nature Genetics · doi:10.1038/ng1981 · Cited by 610 · see citing works

A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes

Antoniou, A. C., Pharoah, P. D. P., McMullan, G., Day, N. E., Stratton, M. R., Peto, J., Ponder, B., & Easton, D. F. (2002) · British Journal of Cancer · doi:10.1038/sj.bjc.6600008 · Cited by 493 · see citing works

A recurrent mutation in PALB2 in Finnish cancer families

Erkko, H., Xia, B., Nikkilä, J., Schleutker, J., Syrjäkoski, K., Mannermaa, A., Kallioniemi, A. H., Pylkäs, K., Karppinen, S., Rapakko, K., et al. (2007) · Nature · doi:10.1038/nature05609 · Cited by 466 · see citing works

CHEK2*1100delC and Susceptibility to Breast Cancer: A Collaborative Analysis Involving 10,860 Breast Cancer Cases and 9,065 Controls from 10 Studies

* (2004) · The American Journal of Human Genetics · doi:10.1086/421251 · Cited by 466 · see citing works

Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population‐based study

Antoniou, A. C., Pharoah, P. D. P., McMullan, G., Day, N. E., Ponder, B. A. J., & Easton, D. (2001) · Genetic Epidemiology · doi:10.1002/gepi.1014 · Cited by 289 · see citing works

Polygenic inheritance of breast cancer: Implications for design of association studies

Antoniou, A. C., & Easton, D. F. (2003) · Genetic Epidemiology · doi:10.1002/gepi.10261 · Cited by 232 · see citing works

Analysis of PALB2 / FANCN -associated breast cancer families

Tischkowitz, M. D., Xia, B., Sabbaghian, N., Reis-Filho, J. S., Hamel, N., Li, G., van Beers, E. H., Li, L., Khalil, T., Quenneville, L., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0701724104 · Cited by 211 · see citing works

Genetic Predisposition to Cancer

Ponder, B. A. (1996) · Springer eBooks · doi:10.1007/978-1-4899-4501-3 · Cited by 187 · see citing works

Familial Risks, Early-Onset Breast Cancer, and BRCA1 and BRCA2 Germline Mutations

Dite, G. S., Jenkins, M. A., Southey, M. C., Hocking, J. S., Giles, G. G., McCredie, M. R. E., Venter, D. J., & Hopper, J. L. (2003) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/95.6.448 · Cited by 178 · see citing works

Identification of a novel truncating PALB2mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women

Foulkes, W. D., Ghadirian, P., Akbari, M. R., Hamel, N., Giroux, S., Sabbaghian, N., Darnel, A. D., Royer, R., Poll, A., Fafard, E., et al. (2007) · Breast Cancer Research · doi:10.1186/bcr1828 · Cited by 156 · see citing works

Population-based family studies in genetic epidemiology

Hopper, J. L., Bishop, D. T., & Easton, D. F. (2005) · The Lancet · doi:10.1016/s0140-6736(05)67570-8 · Cited by 150 · see citing works

Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening

Smith, A., Moran, A., Boyd, M., Bulman, M., Shenton, A., Smith, L., Iddenden, R., Woodward, E., Lalloo, F., Maher, E., et al. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2006.043091 · Cited by 119 · see citing works

Familial Aggregation of a Disease Consequent upon Correlation between Relatives in a Risk Factor Measured on a Continuous Scale

Hopper, J. L., & Carlin, J. B. (1992) · American Journal of Epidemiology · doi:10.1093/oxfordjournals.aje.a116580 · Cited by 119 · see citing works

Expression of drug resistance proteins in breast cancer, in relation to chemotherapy

Linn, S. C., Pinedo, H. M., van Ark-Otte, J., van der Valk, P., Hoekman, K., Honkoop, A. H., Vermorken, J. B., & Giaccone, G. (1997) · International Journal of Cancer · doi:10.1002/(sici)1097-0215(19970529)71:5 · Cited by 112 · see citing works

Penetrance Analysis of the PALB2 c.1592delT Founder Mutation

Erkko, H., Dowty, J. G., Nikkilä, J., Syrjäkoski, K., Mannermaa, A., Pylkäs, K., Southey, M. C., Holli, K., Kallioniemi, A. H., Jukkola‐Vuorinen, A., et al. (2008) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-08-0210 · Cited by 102 · see citing works

Population-based estimates of breast cancer risks associated withATMgene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry

Bernstein, J. L., Teraoka, S. N., Southey, M. C., Jenkins, M. A., Andrulis, I. L., Knight, J. A., John, E. M., Lapinski, R. H., Wolitzer, A. L., Whittemore, A. S., et al. (2006) · Human Mutation · doi:10.1002/humu.20415 · Cited by 101 · see citing works

Modelling the Influence of Risk Factors on Familial Aggregation of Disease

Aalen, O. O. (1991) · Biometrics · doi:10.2307/2532650 · Cited by 30 · see citing works

A protein-truncating mutation inCYP17A1 in three sisters with early-onset breast cancer

Hopper, J. L., Hayes, V. M., Spurdle, A. B., Chenevix‐Trench, G., Jenkins, M. A., Milne, R. L., Dite, G. S., Tesoriero, A. A., McCredie, M. R. E., Giles, G. G., et al. (2005) · Human Mutation · doi:10.1002/humu.20237 · Cited by 15 · see citing works

Breast-Cancer Risk in Families with Mutations in PALB2

Antoniou, A. C., Casadei, S., Heikkinen, T., Barrowdale, D., Pylkäs, K., Roberts, J., Lee, A., Subramanian, D., Leeneer, K. D., Fostira, F., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1400382 · Cited by 853 · see citing works

Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment

Desmond, A. J., Kurian, A. W., Gabree, M., Mills, M. A., Anderson, M. J., Kobayashi, Y., Horick, N., Yang, S., Shannon, K. M., Tung, N., et al. (2015) · JAMA Oncology · doi:10.1001/jamaoncol.2015.2690 · Cited by 333 · see citing works

Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes

Castéra, L., Krieger, S., Rousselin, A., Legros, A., Baumann, J., Bruet, O., Brault, B., Fouillet, R., Goardon, N., Letac, O., et al. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.16 · Cited by 266 · see citing works

The Role of Risk-Reducing Surgery in Hereditary Breast and Ovarian Cancer

Hartmann, L. C., & Lindor, N. M. (2016) · New England Journal of Medicine · doi:10.1056/nejmra1503523 · Cited by 254 · see citing works

DNA damage tolerance: a double-edged sword guarding the genome.

Ghosal, G., & Chen, J. (2013) · PubMed · doi:10.3978/j.issn.2218-676x.2013.04.01 · Cited by 204 · see citing works

PALB2/FANCN: Recombining Cancer and Fanconi Anemia

Tischkowitz, M. D., & Xia, B. (2010) · Cancer Research · doi:10.1158/0008-5472.can-10-1012 · Cited by 196 · see citing works

What Is Known about Breast Cancer in Young Women?

Zhu, J. W., Charkhchi, P., Adekunte, S., & Akbari, M. R. (2023) · Cancers · doi:10.3390/cancers15061917 · Cited by 171 · see citing works

PALB2 mutations in familial breast and pancreatic cancer

Hofstatter, E. W., Domchek, S. M., Miron, A., Garber, J. E., Wang, M., Componeschi, K. P., Boghossian, L., Miron, P. L., Nathanson, K. L., & Tung, N. (2011) · Familial Cancer · doi:10.1007/s10689-011-9426-1 · Cited by 155 · see citing works

Evidence-based psychiatric genetics, AKA the false dichotomy between common and rare variant hypotheses

Visscher, P. M., Goddard, M. E., Derks, E. M., & Wray, N. R. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.65 · Cited by 138 · see citing works

Increased Risk for Other Cancers in Addition to Breast Cancer for CHEK2*1100delC Heterozygotes Estimated From the Copenhagen General Population Study

Näslund‐Koch, C., Nordestgaard, B. G., & Bojesen, S. E. (2016) · Journal of Clinical Oncology · doi:10.1200/jco.2015.63.3594 · Cited by 123 · see citing works

A PALB2 mutation associated with high risk of breast cancer

Southey, M. C., Teo, Z. L., Dowty, J. G., Odefrey, F., Park, D. J., Tischkowitz, M. D., Sabbaghian, N., Apicella, C., Byrnes, G. B., Winship, I., et al. (2010) · Breast Cancer Research · doi:10.1186/bcr2796 · Cited by 116 · see citing works

Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1

Cantor, S. B., & Guillemette, S. (2011) · Future Oncology · doi:10.2217/fon.10.191 · Cited by 106 · see citing works

Penetrance Analysis of the PALB2 c.1592delT Founder Mutation

Erkko, H., Dowty, J. G., Nikkilä, J., Syrjäkoski, K., Mannermaa, A., Pylkäs, K., Southey, M. C., Holli, K., Kallioniemi, A. H., Jukkola‐Vuorinen, A., et al. (2008) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-08-0210 · Cited by 102 · see citing works

Population-Based Estimate of the Contribution of TP53 Mutations to Subgroups of Early-Onset Breast Cancer: Australian Breast Cancer Family Study

Mouchawar, J., Korch, C. T., Byers, T., Pitts, T. M., Li, E., McCredie, M. R. E., Giles, G. G., Hopper, J. L., & Southey, M. C. (2010) · Cancer Research · doi:10.1158/0008-5472.can-09-0851 · Cited by 92 · see citing works

Rare, evolutionarily unlikely missense substitutions in CHEK2contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study

Calvez‐Kelm, F. L., Lesueur, F., Damiola, F., Vallée, M., Voegele, C., Babikyan, D., Durand, G., Forey, N., McKay‐Chopin, S., Robinot, N. R., et al. (2011) · Breast Cancer Research · doi:10.1186/bcr2810 · Cited by 86 · see citing works

Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes — Providing evidence of cancer predisposition genes

Suszyńska, M., Klonowska, K., Jasinska, A. J., & Kozłowski, P. (2019) · Gynecologic Oncology · doi:10.1016/j.ygyno.2019.01.027 · Cited by 81 · see citing works

Expanded genetic screening panel for the Ashkenazi Jewish population

Baskovich, B. W., Hiraki, S. C., Upadhyay, K., Meyer, P., Carmi, S., Barzilai, N., Darvasi, A., Ozelius, L. J., Peter, I., Cho, J. H., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.123 · Cited by 80 · see citing works

Inherited Mutations in Breast Cancer Genes—Risk and Response

Shuen, A. Y., & Foulkes, W. D. (2011) · Journal of Mammary Gland Biology and Neoplasia · doi:10.1007/s10911-011-9213-5 · Cited by 71 · see citing works

Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer

Paulo, P., Maia, S., Pinto, C., Pinto, P., Monteiro, A., Peixoto, A., & Teixeira, M. R. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007355 · Cited by 68 · see citing works

Family History, Genetic Testing, and Clinical Risk Prediction: Pooled Analysis of CHEK2*1100delC in 1,828 Bilateral Breast Cancers and 7,030 Controls

Fletcher, O., Johnson, N., dos‐Santos‐Silva, I., Kilpivaara, O., Aittomäki, K., BLOMQVIST, C. P., Nevanlinna, H. A., Wasielewski, M., Meijers-Heijboer, H. E. J., Broeks, A., et al. (2009) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-08-0416 · Cited by 55 · see citing works

Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer

Hellebrand, H., Sutter, C., Honisch, E., Groß, E., Wappenschmidt, B., Schem, C., Deißler, H., Ditsch, N. C., Gress, V., Kiechle, M. B., et al. (2011) · Human Mutation · doi:10.1002/humu.21478 · Cited by 54 · see citing works

A PALB2 germline mutation associated with hereditary breast cancer in Italy

Papi, L., Putignano, A. L., Congregati, C., Piaceri, I., Zanna, I., Sera, F., Morrone, D., Genuardi, M., & Palli, D. (2009) · Familial Cancer · doi:10.1007/s10689-009-9295-z · Cited by 47 · see citing works

Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

Teo, Z. L., Park, D. J., Provenzano, E., Chatfield, C., Odefrey, F., Nguyen‐Dumont, T., kConFab, Dowty, J. G., Hopper, J. L., Winship, I., et al. (2013) · Breast Cancer Research · doi:10.1186/bcr3392 · Cited by 46 · see citing works

Cancer Risk Assessment Using Genetic Panel Testing: Considerations for Clinical Application

Hiraki, S. C., Rinella, E. S., Schnabel, F. R., Oratz, R., & D, H. O. M. (2014) · Journal of Genetic Counseling · doi:10.1007/s10897-014-9695-6 · Cited by 45 · see citing works

Cancer risks in first-degree relatives of CHEK2 mutation carriers: effects of mutation type and cancer site in proband

Gronwald, J., Cybulski, C., Piesiak, W., Suchy, J., Huzarski, T., Byrski, T., Górski, B., Dębniak, T., Szwiec, M., Wokolowczyk, D., et al. (2009) · British Journal of Cancer · doi:10.1038/sj.bjc.6605038 · Cited by 43 · see citing works

Whole-Genome Sequencing in Healthy People

Lindor, N. M., Thibodeau, S. N., & Burke, W. (2017) · Mayo Clinic Proceedings · doi:10.1016/j.mayocp.2016.10.019 · Cited by 41 · see citing works

Population-Based Estimate of Prostate Cancer Risk for Carriers of the HOXB13 Missense Mutation G84E

MacInnis, R. J., Severi, G., Baglietto, L., Dowty, J. G., Jenkins, M. A., Southey, M. C., Hopper, J. L., & Giles, G. G. (2013) · PLoS ONE · doi:10.1371/journal.pone.0054727 · Cited by 37 · see citing works

PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer

Peterlongo, P., Catucci, I., Pasquini, G., Verderio, P., Peissel, B., Barile, M., Varesco, L., Riboni, M., Fortuzzi, S., Manoukian, S., et al. (2010) · Breast Cancer Research and Treatment · doi:10.1007/s10549-010-1305-1 · Cited by 37 · see citing works

Hereditary Diffuse Gastric Cancer

Schrader, K. A., & Huntsman, D. D. (2010) · Cancer treatment and research · doi:10.1007/978-1-4419-6033-7_3 · Cited by 36 · see citing works

Multigene testing of moderate-risk genes: be mindful of the missense

Young, E. L., Feng, B., Stark, A. W., Damiola, F., Durand, G., Forey, N., Francy, T. C., Gammon, A., Kohlmann, W. K., Kaphingst, K. A., et al. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103398 · Cited by 34 · see citing works

Heterozygous PALB2 c.1592delT mutation channels DNA double-strand break repair into error-prone pathways in breast cancer patients

Obermeier, K., Sachsenweger, J., Friedl, T. W. P., Pospiech, H., Winqvist, R., & Wiesmüller, L. (2015) · Oncogene · doi:10.1038/onc.2015.448 · Cited by 33 · see citing works

Breast cancer genetics in young women: What do we know?

Gómez‐Flores‐Ramos, L., Álvarez-Gómez, R. M., Villarreal-Garza, C. M., Wegman-Ostrosky, T., & Mohar, A. (2017) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2017.08.001 · Cited by 33 · see citing works

Translational opportunities for broad‐spectrum natural phytochemicals and targeted agent combinations in breast cancer

Nagaprashantha, L. D., Adhikari, R., Singhal, J., Chikara, S., Awasthi, S., Horne, D. A., & Singhal, S. S. (2017) · International Journal of Cancer · doi:10.1002/ijc.31085 · Cited by 26 · see citing works

Prevalence of PALB2 mutation c.509_510delGA in unselected breast cancer patients from Central and Eastern Europe

Noskowicz, M., Bogdanova, N. V., Bermisheva, M., Takhirova, Z., Antonenkova, N., Хуснутдинова, Э. К., Bremer, M., Christiansen, H., Park‐Simon, T., Hillemanns, P., et al. (2013) · Familial Cancer · doi:10.1007/s10689-013-9684-1 · Cited by 25 · see citing works

Inactivating Mutations in GT198 in Familial and Early-Onset Breast and Ovarian Cancers

Peng, M., Bakker, J. L., DiCioccio, R. A., Gille, J. J. P., Zhao, H., Odunsi, K., Sucheston, L., Jaafar, L., Mivechi, N. F., Waisfisz, Q., et al. (2013) · Genes & Cancer · doi:10.1177/1947601913486344 · Cited by 24 · see citing works

Molecular Biology In Young Women With Breast Cancer: From Tumor Gene Expression To Dna Mutations

Gómez‐Flores‐Ramos, L., Castro‐Sánchez, A., Peña‐Curiel, O., & Mohar, A. (2017) · Revista de investigaci�n Cl�nica · doi:10.24875/ric.17002225 · Cited by 23 · see citing works

Genetic variants in ATM, H2AFX and MRE11 genes and susceptibility to breast cancer in the polish population

Podralska, M., Ziółkowska‐Suchanek, I., Żurawek, M., Dzikiewicz‐Krawczyk, A., Słomski, R., Nowak, J., Stembalska, A., Pesz, K. A., & Mosor, M. (2018) · BMC Cancer · doi:10.1186/s12885-018-4360-3 · Cited by 23 · see citing works

Are PALB2 mutations associated with increased risk of male breast cancer?

kConFab, de Chalon, A. S., Teo, Z., Park, D. J., Odefrey, F., Hopper, J. L., & Southey, M. C. (2009) · Breast Cancer Research and Treatment · doi:10.1007/s10549-009-0673-x · Cited by 21 · see citing works

FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: no evidence for association with risk for breast cancer

Park, D. J., Odefrey, F., Hammet, F., Giles, G. G., Baglietto, L., Abcfs, MCCS, Hopper, J. L., Schmidt, D. F., Makalic, E., et al. (2011) · Breast Cancer Research and Treatment · doi:10.1007/s10549-011-1704-y · Cited by 20 · see citing works

Does family history predict the age at onset of new breast cancers in BRCA1 and BRCA2 mutation‐positive families?

Panchal, S., Bordeleau, L. J., Poll, A., Llacuachaqui, M., Shachar, O., Ainsworth, P., Armel, S. R., Eisen, A. F., Sun, P., & Narod, S. (2009) · Clinical Genetics · doi:10.1111/j.1399-0004.2009.01328.x · Cited by 18 · see citing works

RAD51 135G>C and TP53 Arg72Pro polymorphisms and susceptibility to breast cancer in Serbian women

Krivokuća, A., Malisic, E. J., Dobričić, J., Brotto, K., Cavic, M. R., Jankovic, R. N., Tomasevic, Z. I., & Brankovic-Magic, M. V. (2013) · Familial Cancer · doi:10.1007/s10689-013-9690-3 · Cited by 16 · see citing works

Breast cancer genetic susceptibility: With focus in Saudi Arabia

Alshammari, F. D. (2019) · Journal of Oncological Sciences · doi:10.1016/j.jons.2019.02.001 · Cited by 16 · see citing works

Loss of the BRCA1-Interacting Helicase BRIP1 Results in Abnormal Mammary Acinar Morphogenesis

Daino, K., Imaoka, T., Morioka, T., Tani, S., Iizuka, D., Nishimura, M., & Shimada, Y. (2013) · PLoS ONE · doi:10.1371/journal.pone.0074013 · Cited by 16 · see citing works

Two new CHEK2 germ-line variants detected in breast cancer/sarcoma families negative for BRCA1, BRCA2, and TP53 gene mutations

Manoukian, S., Peissel, B., Frigerio, S., Lecis, D., Bártková, J., Roversi, G., Radice, P., Bártek, J., & Delia, D. (2011) · Breast Cancer Research and Treatment · doi:10.1007/s10549-011-1548-5 · Cited by 16 · see citing works

Low prevalence of germline PALB2 mutations in Australian triple‐negative breast cancer

Wong‐Brown, M. W., Avery‐Kiejda, K. A., Bowden, N. A., & Scott, R. J. (2013) · International Journal of Cancer · doi:10.1002/ijc.28361 · Cited by 15 · see citing works

The incidence of PALB2 c.3113G>A in women with a strong family history of breast and ovarian cancer attending familial cancer centres in Australia

Teo, Z. L., Sawyer, S. D., James, P. A., Mitchell, G., Trainer, A. H., Lindeman, G. J., Shackleton, K., Cicciarelli, L., & Southey, M. C. (2013) · Familial Cancer · doi:10.1007/s10689-013-9620-4 · Cited by 13 · see citing works

The surprising implications of familial association in disease risk

Valberg, M., Stensrud, M. J., & Aalen, O. O. (2018) · BMC Public Health · doi:10.1186/s12889-018-5033-5 · Cited by 12 · see citing works

Risk of colorectal neoplasia associated with the adenomatous polyposis coli E1317Q variant

Hall, M. J., Liberman, E., Dulkart, O., Galazan, L., Sagiv, E., Shmueli, E., Kazanov, D., Hallak, A., Moshkowitz, M., Figer, A., et al. (2009) · Annals of Oncology · doi:10.1093/annonc/mdp023 · Cited by 9 · see citing works

Understanding the Clinical Implications of Low Penetrant Genes and Breast Cancer Risk

Vaidyanathan, A., & Kaklamani, V. (2021) · Current Treatment Options in Oncology · doi:10.1007/s11864-021-00887-4 · Cited by 8 · see citing works

7q21-rs6964587 and breast cancer risk: an extended case–control study by the Breast Cancer Association Consortium

Milne, R. L., Lorenzo-Bermejo, J., Burwinkel, B., Malats, N., Arias, J. I., Zamora, M. P., Benitez, J. J., Humphreys, M. K., García‐Closas, M., Chanock, S. J., et al. (2011) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2011-100303 · Cited by 8 · see citing works

Estimating cumulative risks for breast cancer for carriers of variants in uncommon genes

Lindor, N. M., Hopper, J. L., & Dowty, J. G. (2016) · Familial Cancer · doi:10.1007/s10689-016-9896-2 · Cited by 7 · see citing works

Orthodox Jewish Thought Leaders’ Insights Regarding BRCA Mutations: A Descriptive Study

Bressler, T., & Popp, B. (2017) · Journal of Oncology Practice · doi:10.1200/jop.2016.015503 · Cited by 7 · see citing works

Hereditary predisposition to breast cancer – with a focus on AATF , MRG15 , PALB2 , and three Fanconi anaemia genes

Haanpää, M. K. (2014) · Cited by 6 · see citing works

Association of single nucleotide polymorphisms with renal cell carcinoma in Algerian population

Bensouilah, F., Chellat-Rezgoun, D., García-González, M. Á., Carrera, N., Abadi, N., Dahdouh, A., & Satta, D. (2020) · African Journal of Urology · doi:10.1186/s12301-020-00055-4 · Cited by 6 · see citing works

Familial concordance of breast cancer pathology as an indicator of genotype in multiple‐case families

Balleine, R. L., Provan, P. J., Pupo, G. M., Pathmanathan, N., Cummings, M. C., Farshid, G., Salisbury, E., Bilous, A. M., Byth, K., & Mann, G. J. (2010) · Genes Chromosomes and Cancer · doi:10.1002/gcc.20816 · Cited by 6 · see citing works

Functional analysis of ATM variants in a high risk cohort provides insight into missing heritability

Baughan, S. L., Darwiche, F., & Tainsky, M. A. (2022) · Cancer Genetics · doi:10.1016/j.cancergen.2022.03.003 · Cited by 5 · see citing works

Identification of CHEK2 Germline Mutations in BRCA1/2- and PALB2-Negative Breast and Ovarian Cancer Patients

Aksoy, F., Tezcan-Unlu, H., Çeçener, G., Eskiler, G. G., Egelí, Ü., Tunca, B., Efendi, E., Şenol, K., & Gökgöz, M. Ş. (2022) · Human Heredity · doi:10.1159/000521369 · Cited by 5 · see citing works

Clinical implications of low-penetrance breast cancer susceptibility alleles

Freisinger, F., & Domchek, S. M. (2008) · Current Oncology Reports · doi:10.1007/s11912-009-0003-9 · Cited by 5 · see citing works

Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer

Velázquez, C., Esteban‐Cardeñosa, E., Lastra, E., Abella, L., de la Cruz, V., Lobatón, C. D., Durán, M., & Infante, M. (2018) · Molecular Carcinogenesis · doi:10.1002/mc.22910 · Cited by 4 · see citing works

Familial Breast Cancer and Genetic Predisposition in Breast Cancer

Walavalkar, V., Khan, A. A., & Kandil, D. H. (2015) · Molecular pathology library · doi:10.1007/978-1-4939-2886-6_2 · Cited by 2 · see citing works

Breast Cancer Invasion and Metastasis

Stecklein, S. R., Elsarraj, H. S., Valdez, K. E., Paul, A., & Behbod, F. (2013) · Springer eBooks · doi:10.1007/978-94-007-7835-1_3 · Cited by 2 · see citing works

Association between missense variants of uncertain significance in the CHEK2 gene and hereditary breast cancer: a cosegregation and bioinformatics analysis

Alonso, N., Menao, S., Lastra, R. P., Arruebo, M., Bueso, M. P., Pérez, E., Murillo, M. L., Álvarez, M., Llorente, A. A., Rebollar, S., et al. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2023.1274108 · Cited by 1 · see citing works

Familial breast cancer, pregnancy and cardiotoxicity associated with the use of doxorubicin and reaction with trastuzumab

Valente, P. M. S., Gomes, M. C. B., Martins, W. D. A., & de Castilho, S. R. (2022) · Journal of Oncology Pharmacy Practice · doi:10.1177/10781552221080081 · Cited by 1 · see citing works

La génétique constitutionnelle peut-elle impacter la prise en charge d’une femme atteinte de cancer du sein aujourd’hui ?

Delaloge, S., Rimareix, F., Balleyguier, C., Remenieras, A., Varga, A., Uzan, C., Bourgier, C., & Caron, O. (2010) · ONCOLOGIE · doi:10.1007/s10269-010-1877-8 · Cited by 1 · see citing works

Estudo de genes e variantes genéticas associadas ao câncer de mama familial: impactos no aconselhamento genético

do Carmo, G. B. (2019) · doi:10.11606/d.41.2019.tde-16042019-084208 · Cited by 1 · see citing works

Análise do complexo gênico FANCD2/FANCI em mulheres brasileiras com câncer de mama herediitário

Amstalden, L. G. (2011) · doi:10.47749/t/unicamp.2011.785911

Factors Associated with Early Versus Late Development of Breast and Ovarian Cancer in BRCA1 and BRCA2 Positive Women

Pickarski, J. (2010) · Digital Commons-TMC (Texas Medical Center)

Targeted Apoptosis in Breast Cancer Immunotherapy

Jia, L., & Yang, A. (2012) · InTech eBooks · doi:10.5772/21840

Expression of shelterin and shelterin-associated genes in breast cancer cell lines

Motevalli, A. (2014) · Brunel University Research Archive (BURA) (Brunel University London)

Understanding the Paradigm Challenges Posed by Multiplex Panel Testing for Cancer Susceptibility

Robson, M. E. (2014) · Current Genetic Medicine Reports · doi:10.1007/s40142-014-0057-3

Role of the breast cancer surgeon in the personalized era

Ahmadiyeh, N., Schnure, N., & Esserman, L. J. (2013) · Breast Cancer Management · doi:10.2217/bmt.13.22

This Provisional PDF corresponds to the article as it appeared upon acceptance. Copyedited and fully formatted PDF and full text (HTML) versions will be made available soon.

Teo, Z. L., Odefrey, F., Park, D. J., Tischkowitz, M. D., Sabbaghian, N., Byrnes, G. B., Winship, I., Giles, G. G., Goldgar, D. E., & Hopper, J. L. (2010)

PALB2 mutations in familial breast and pancreatic cancer Erin W. HofstatterSusan M. DomchekAlexander Miron • Judy GarberMolin WangKathryn ComponeschiLeigh Boghossian • Penelope L. MironKatherine L. NathansonNadine Tung

Hofstatter, E. W., Domchek, S. M., Boghossian, L., Nathanson, K. L., Miron, A., Miron, P. L., Garber, J. E., Wang, M., Componeschi, K. P., & Tung, N. L. (2011)

Investigation of Ring Finger Protein 8 in Mammalian Physiology and Pathogenesis

Li, L. (2015) · TSpace (University of Toronto)

Genetic Contributors to Hereditary Cancer Predispositions: Do We Have Enough Information?

Nolis, T., & Scott, R. J. (2019) · IntechOpen eBooks · doi:10.5772/intechopen.81870

IONIZING RADIATION

(2013) · CRC Press eBooks · doi:10.1201/b14587-15

Reproductive System

Hodgson, S. V., Foulkes, W. D., Eng, C., & Maher, E. R. (2013) · Springer eBooks · doi:10.1007/978-1-4471-2375-0_6

A framework evaluating the utility of multi-gene, multi-disease population-based panel testing that accounts for uncertainty in penetrance estimatesPreprint

Liang, J. W., Christensen, K. D., Green, R. C., & Kraft, P. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.08.10.503415

Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates

Liang, J. W., Christensen, K. D., Green, R. C., & Kraft, P. (2024) · npj Genomic Medicine · doi:10.1038/s41525-024-00414-y

Molecular Symphony in Breast Cancer: Insights on Genomic Discoveries and Epigenetic Regulation

Thombre, K. R., Gupta, K. R., & Umekar, M. J. (2025) · Current pharmacogenomics and personalized medicine (Online)/Current pharmacogenomics and personalized medicine · doi:10.2174/0118756921389643250731042712

Study of differential allelic expression in the breast cancer intermediate-risk susceptibility genes CHEK2, ATM and TP53

Nguyen-Dumont, B. T. T. (2010) · theses.fr (ABES) · doi:10.70675/4efdaa80z4154z4df4z817fz17a6042243c2

Développement de stratégies de criblage de mutations d'épissage dans des gènes de prédisposition au cancer.

Tubeuf, H. (2019) · theses.fr (ABES) · doi:10.70675/e62a0ca5z7722z4c72z9d57z726ae2bc0e42

Hereditary Mutations and Cancer Management

Trainer, A. H., & Ward, R. L. (2009) · IMPERIAL COLLEGE PRESS eBooks · doi:10.1142/9781848163652_0041

Review

Byrnes, G. B., & Southey, M. C. (2008)

Breast cancer screening implications of risk modeling among female relatives of ATM and CHEK2 carriers

Weidner, A. E., Liggin, M. E., Zuniga, B., Tezak, A. L., Wiesner, G. L., & Pal, T. (2020) · Cancer · doi:10.1002/cncr.32715 · Cited by 7 · see citing works

Risk assessment in relatives of patients with breast cancer

Sharma, D. C. (2005) · The Lancet Oncology · doi:10.1016/s1470-2045(05)70455-1

Moderate penetrance genes complicate genetic testing for breast cancer diagnosis: ATM, CHEK2, BARD1 and RAD51D

Graffeo, R., Rana, H. Q., Conforti, F., Bonanni, B., Cardoso, M. J., Paluch–Shimon, S., Pagani, O., Goldhirsch, A., Partridge, A. H., Lambertini, M., et al. (2022) · The Breast · doi:10.1016/j.breast.2022.06.003 · Cited by 96 · see citing works

Breast cancer genes: beyond BRCA1 and BRCA2

Vega, A. (2013) · Frontiers in bioscience · doi:10.2741/4185 · Cited by 88 · see citing works