Genetic Anticipation ~ Phenotype / Expression / Risk Spectrum of HBOC
~ Genetics of Breast & Ovarian Cancer

Category also includes "cohort effect" and "parent-of-origin effect".

List was last updated on Oct 12, 2022 @ 8:38 pm.

- Genetic anticipation of breast cancer among BRCA1/BRCA2 mutation carriers: A retrospective study.
- Kedmi A, Kadouri L, Sagy I, Hamburger T, Levin G, Zimhony-Nissim N, Peretz T.
- Int J Gynaecol Obstet. 2022 Nov;159(2):537-543. doi: 10.1002/ijgo.14179. Epub 2022 Mar 23.
- PMID: 35278219
- PubMed abstract
- Source abstract

- Is there a genetic anticipation in breast and/or ovarian cancer families with the germline c.3481_3491del11 mutation?
- El Tannouri R, Albuisson E, Jonveaux P, Luporsi E.
- Fam Cancer. 2018 Jan;17(1):5-14. doi: 10.1007/s10689-017-9999-4.
- PMID: 28493033
- PubMed abstract
- Source abstract

- Parent of Origin and Prognosis in Familial Breast Cancer in Sweden.
- Wendt C, Lindblom A, Arver B, VON Wachenfeldt A, Margolin S.
- Anticancer Res. 2017 Mar;37(3):1257-1262.
- PMID: 28314290
- PubMed abstract
- Source abstract

- The BRCA1/2 Parent-of-Origin Effect on Breast Cancer Risk-Letter.
- Evans DG, Harkness E, Lalloo F.
- Cancer Epidemiol Biomarkers Prev. 2017 Feb;26(2):284. doi: 10.1158/1055-9965.EPI-16-0832.
- PMID: 28167644
- PubMed abstract
- Source abstract
- Letter
Related:

Letter, Reply:

The BRCA1/2 Parent-of-Origin Effect on Breast Cancer Risk-Response.
- PMID: 28167645
- PubMed abstract
- Source abstract

- Earlier Age of Breast Cancer Onset in Israeli BRCA Carriers-Is it a Real Phenomenon?
- Agranat S, Baris H, Kedar I, Shochat M, Rizel S, Perry S, Margel D, Sulkes A, Yerushalmi R.
- Breast J. 2016 Nov;22(6):662-666. doi: 10.1111/tbj.12653. Epub 2016 Aug 17.
- PMID: 27533489
- PubMed abstract
- Source abstract

- Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers.
- Vos JR, Oosterwijk JC, Aalfs CM, Rookus MA, Adank MA, van der Hout AH, van Asperen CJ, Gómez Garcia EB, Mensenkamp AR, Jager A, Ausems MG, Mourits MJ, de Bock GH; Hereditary Breast and Ovarian Cancer Research Group Netherlands.
- Cancer Epidemiol Biomarkers Prev. 2016 Aug;25(8):1251-8. doi: 10.1158/1055-9965.EPI-16-0182. Epub 2016 Jun 8.
- PMID: 27277847
- PubMed abstract
- Source abstract

- Genetic anticipation in BRCA1/BRCA2 families after controlling for ascertainment bias and cohort effect.
- Guindalini RS, Song A, Fackenthal JD, Olopade OI, Huo D.
- Cancer. 2016 Jun 15;122(12):1913-20. doi: 10.1002/cncr.29972. Epub 2016 Mar 15.
- PMID: 26992017
- PubMed abstract
- Source abstract

- Genetics: Relative risk.
- Velasquez-Manoff M.
- Nature. 2015 Nov 18;527(7578):S116-S117. doi: 10.1038/527S116a.
- PMID: 26580161
- PubMed abstract
- Source abstract
- Review

- Epidemiological and clinicopathological characteristics of BRCA-positive and BRCA-negative breast cancer patients in Greece.
- Triantafyllidou O, Vlachos IS, Apostolou P, Konstantopoulou I, Grivas A, Panopoulos C, Dimitrakakis C, Kassanos D, Loghis C, Bramis I, Vlahos N, Yannoukakos D, Fostira F.
- J BUON. 2015 Jul-Aug;20(4):978-84.
- PMID: 26416046
- PubMed abstract
- Table of Contents

- Estimate of the penetrance of BRCA mutation and the COS software for the assessment of BRCA mutation probability.
- Berrino J, Berrino F, Francisci S, Peissel B, Azzollini J, Pensotti V, Radice P, Pasanisi P, Manoukian S.
- Fam Cancer. 2015 Mar;14(1):117-28. doi: 10.1007/s10689-014-9766-8.
- PMID: 25373702
- PubMed abstract
- Source abstract

- Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2.
- Gabai-Kapara E, Lahad A, Kaufman B, Friedman E, Segev S, Renbaum P, Beeri R, Gal M, Grinshpun-Cohen J, Djemal K, Mandell JB, Lee MK, Beller U, Catane R, King MC, Levy-Lahad E.
- Proc Natl Acad Sci U S A. 2014 Sep 30;111(39):14205-10. doi: 10.1073/pnas.1415979111. Epub 2014 Sep 5.
- PMID: 25192939
- PubMed abstract
- (PDF)
Related:

Comments on NSGC Discussion Forum Cancer SIG

Subject: Population screening for BRCA1/2

- Genetic anticipation of familial breast cancer with or without BRCA mutation in the Korean population.
- Noh JM, Choi DH, Baek H, Kim MJ, Park H, Huh SJ, Park W, Nam SJ, Lee JE, Kil WH, Haffty BG.
- Cancer Genet. 2014 Apr;207(4):160-3. doi: 10.1016/j.cancergen.2014.04.002. Epub 2014 Apr 12.
- PMID: 24853100
- PubMed abstract
- Source abstract

- Central European BRCA2 mutation carriers: birth cohort status correlates with onset of breast cancer.
- Tea MK, Kroiss R, Muhr D, Fuerhauser-Rappaport C, Oefner P, Wagner TM, Singer CF.
- Maturitas. 2014 Jan;77(1):68-72. doi: 10.1016/j.maturitas.2013.09.012. Epub 2013 Oct 1.
- PMID: 24156927
- PubMed abstract
- Source abstract

- Earlier age of onset of BRCA mutation-related cancers in subsequent generations.
- Litton JK, Ready K, Chen H, Gutierrez-Barrera A, Etzel CJ, Meric-Bernstam F, Gonzalez-Angulo AM, Le-Petross H, Lu K, Hortobagyi GN, Arun BK.
- Cancer. 2012 Jan 15;118(2):321-5. doi: 10.1002/cncr.26284. Epub 2011 Sep 12.
- PMID: 21913181
- PubMed abstract
- Source abstract
Related:

Press: Breast Cancer Patients With BRCA Gene Diagnosed Almost Eight Years Earlier Than Generation Before. (ScienceDaily)

Research News: Earlier diagnosis of BRCA-cancers in younger generations. (PHG Foundation)

Press: Progress in Cancer Genomic Medicine: A Year in Review, 2012. (Medscape Genomic Medicine)