Familial Breast Cancer

Susceptibility for developing breast carcinoma in patients whose relatives have a history of breast carcinoma is associated with germline mutations in several genes. These include: BRCA1, BRCA2, BRCA3, BWSCR1A, RB1CC1, RAD51, CHEK2, and BARD1 genes. OMIM: 114480

Also Known As:

Breast Cancer, Familial

Networked: 221 relevant articles (3 outcomes, 22 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Breast Neoplasms (Breast Cancer)
2.	Neoplasms (Cancer)
3.	Carcinogenesis
4.	Triple Negative Breast Neoplasms
5.	Mastodynia

Experts

1.	Burwinkel, Barbara: 13 articles (11/2017 - 01/2005)
2.	Meindl, Alfons: 13 articles (11/2017 - 03/2006)
3.	Schmutzler, Rita K: 13 articles (11/2017 - 03/2006)
4.	Hemminki, Kari: 12 articles (03/2008 - 01/2005)
5.	Wappenschmidt, Barbara: 11 articles (08/2012 - 03/2006)
6.	Bartram, Claus R: 10 articles (06/2011 - 03/2006)
7.	Sutter, Christian: 8 articles (09/2015 - 11/2006)
8.	Kiechle, Marion: 8 articles (06/2011 - 08/2006)
9.	Dörk, Thilo: 6 articles (11/2017 - 02/2008)
10.	Nevanlinna, Heli: 6 articles (11/2017 - 02/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Familial Breast Cancer:

1.	DNA (Deoxyribonucleic Acid)IBA 09/01/2012 - "Genomic DNA from familial breast cancer patients (N = 12) were screened and NGS successfully identified all 19 distinct (51 total) BRCA1 and 35 distinct (63 total) BRCA2 sequence alterations detectable by the Sanger sequencing, with no false-negative or positive results. " 12/01/2018 - "We comprehensively searched the literature using Medline through May 23, 2017 for studies conducting gene-panel testing on germline DNA of women with familial breast cancer and reporting on both PVs and VUSs. " 01/01/2017 - "We performed exome sequencing on genomic DNA samples of 6 Byelorussian patients with familial breast cancer. " 03/15/2011 - "To evaluate the contribution of PALB2 to familial breast cancer in the United States, we sequenced the coding sequences and flanking regulatory regions of the gene from constitutional genomic DNA of 1,144 familial breast cancer patients with wild-type sequences at BRCA1 and BRCA2. " 08/01/2010 - "Variants in DNA double-strand break repair genes and risk of familial breast cancer in a South American population."
2.	Mitochondrial DNA (mtDNA)IBA 05/01/2014 - "Mitochondrial DNA variants and risk of familial breast cancer: an exploratory study." 10/01/2007 - "[Study on gene control region of mitochondrial DNA in familial breast cancer]." 04/01/2015 - "Analysis of BRCA1 and mtDNA haplotypes and mtDNA polymorphism in familial breast cancer." 05/01/2014 - "To assess if mitochondrial DNA (mtDNA) variants are associated with mutations in BRCA susceptibility genes and to investigate the possible role of mitochondrial alterations as susceptibility markers in familial breast cancer (BC), 22 patients with or without BRCA1/BRCA2 mutations, 14 sporadic BC patients and 20 healthy subjects were analyzed. " 07/01/2008 - "Together, our data indicate that sequence variants within the mtDNA D-Loop region are frequent events in Chinese familial breast cancer patients. "
3.	Hormones (Hormone)IBA 12/01/1989 - "Serum bioactive lactogenic hormone levels in women with familial breast cancer and their relatives." 04/01/1983 - "Plasma hormone levels were measured every second day throughout the menstrual cycle in 30 women at risk for familial breast cancer and in an equal number of matched controls. " 11/01/1978 - "The plasma hormone concentrations of 30 young women, who were judged by genetic analysis to be at high risk for familial breast cancer, were compared with those of 30 matched controls identified as at low risk for the disease. " 11/01/1978 - "Plasma hormone profiles of young women at risk for familial breast cancer." 12/01/2011 - "In the present study, the authors investigated the clinical, histopathological, and immunohistochemical features in familial breast cancer (FBC) patients and compared them with findings in sporadic breast cancers (SBCs); hormone receptor status was stratified by age. "
4.	Estrogens (Estrogen)FDA Link 03/01/2010 - "Our results favor a possible risk modification by estrogen metabolizing gene polymorphisms in familial breast cancer susceptibility." 03/01/2010 - "Possible risk modification by polymorphisms of estrogen metabolizing genes in familial breast cancer susceptibility in an Indian population." 11/01/1995 - "These genetic changes, possibly related to environmental estrogens or other environmental factors, are distinct from the changes due to mutations of BRCA1 or other familial breast cancer genes. " 04/01/1983 - "Abnormal estrogen conjugation in women at risk for familial breast cancer at the periovulatory stage of the menstrual cycle." 07/01/2004 - "Prospective studies are thus required to estimate the potential benefits of estrogen suppression therapies for prevention or adjuvant treatment of familial breast cancer. "
5.	1,2- di- (4- sulfamidophenyl)- 4- butylpyrazolidine- 3,5- dione (DSB)IBA 03/01/2013 - "Indeed, increased error-prone DSB repair activities were detected in peripheral blood lymphocytes from individuals with familial breast cancer risk independently of specific gene mutations. " 05/30/2014 - "In contrast to extensive studies on familial breast cancer, it is currently unclear whether defects in DNA double strand break (DSB) repair genes play a role in sporadic breast cancer development and progression. " 01/01/2013 - "CtIP plays an important role in homologous recombination (HR)-mediated DNA double-stranded break (DSB) repair and interacts with Nbs1 and BRCA1, which are linked to Nijmegen breakage syndrome (NBS) and familial breast cancer, respectively. " 01/01/2009 - "The role of the familial breast cancer susceptibility genes, BRCA1 and BRCA2, in the homologous recombination (HR) pathway for DNA double-strand break (DSB) repair suggests that the mechanisms involved in HR and DNA DSB repair are of etiological importance during breast tumorigenesis. " 05/15/2003 - "The role of the familial breast cancer susceptibility genes, BRCA1 and BRCA2, in the homologous recombination pathway for DNA double-strand break (DSB) repair suggests that the mechanisms involved in DNA DSB repair are of particular etiological importance during breast tumorigenesis. "
6.	Cyclin D1IBA 08/01/2001 - "In contrast, a large proportion of cyclin D1 and HER2 overexpression in tumours of non-familial breast cancer cases could be accounted for by amplification of these genes. " 10/01/2008 - "If confirmed by further studies, our observations indicate that the investigation of cyclin D1 expression in familial breast cancer cases could be used, in conjunction with the analysis of other tumor markers preferentially associated with BRCA1 or BRCA2 tumors, to prioritize hereditary cases for mutation testing in BRCA genes." 04/01/2008 - "We analyzed the expression of critical cell cycle regulators cyclin E and cyclin D1 in familial breast cancer, focusing on BRCA mutation-negative tumors. "
7.	Transcription Factors (Transcription Factor)IBA 11/17/2006 - "Transcription factor 7-like 2 (TCF7L2) variant is associated with familial breast cancer risk: a case-control study." 11/28/1996 - "TCFL4 (transcription factor like 4) is the HGMW-approved symbol for the gene of a widely expressed putative basic helix-loop-helix leucine-zipper (bHLH-zip) transcription factor which is located 3' to HSD17B1 (17-beta-hydroxysteroid dehydrogenase gene) at 17q21.1, centromeric to the BRCA1 (a gene implicated in familial breast cancer) locus. " 09/04/2009 - "TCF7L2 is a transcription factor involved in Wnt/beta-catenin signaling which has a variant known to be associated with risk of Type 2 diabetes and, in some studies, with risk of certain cancers, including familial breast cancer. "
8.	Oral ContraceptivesIBA 01/01/2002 - "Oral contraceptives and risk of familial breast cancer." 03/01/2000 - "Analyses were adjusted for age, body mass index, height, parity, familial breast cancer, smoking and oral contraceptive use. " 01/01/2002 - "The risk of breast cancer of oral contraceptive (OC) use in 1423 women from families with hereditary/familial breast cancer recruited through a cancer family clinic was analyzed in a matched case-control study. " 10/15/2005 - "Conversely, exogenous estrogens, such as oral contraceptives, may increase the risk of breast carcinoma in familial breast cancer, as suggested by clinical studies. "
9.	Insulin-Like PeptidesIBA 12/01/2008 - "Recent studies have demonstrated a link between the insulin-like growth factor (IGF) signaling pathway and familial breast cancer incidence. " 01/01/2008 - "Effects of lycopene on the insulin-like growth factor (IGF) system in premenopausal breast cancer survivors and women at high familial breast cancer risk." 04/01/2004 - "Insulin-like growth factor (IGF)-system mRNA quantities in normal and tumor breast tissue of women with sporadic and familial breast cancer risk."
10.	beta CateninIBA 03/01/2010 - "We observed that the expression of the active nuclear form of beta-catenin (also known as ABC, Ser37/Thr41-nonphosphorylated beta-catenin, dephosphorylated beta-catenin) was lower or absent in the nucleus in most BRCA1 familial breast cancer tissues (17 cases) compared with sporadic breast cancer (14 samples) and normal breast tissues. " 09/04/2009 - "TCF7L2 is a transcription factor involved in Wnt/beta-catenin signaling which has a variant known to be associated with risk of Type 2 diabetes and, in some studies, with risk of certain cancers, including familial breast cancer. "

Therapies and Procedures

1.	Tertiary Prevention 06/01/2005 - "[The "EVA" Trial: Evaluation of the Efficacy of Diagnostic Methods (Mammography, Ultrasound, MRI) in the secondary and tertiary prevention of familial breast cancer. " 02/01/2015 - "Familial breast cancer - targeted therapy in secondary and tertiary prevention."
2.	Mastectomy (Mammectomy) 06/01/1999 - "[Efficacy of bilateral mastectomy in women with familial breast cancer]." 12/01/2016 - "Women seeking counseling because of familial breast cancer occurrence face difficult decisions, such as whether and when to opt for risk-reducing mastectomy (RRM) in case of BRCA1/2 mutation. " 04/01/2010 - "Contralateral risk-reducing mastectomy in BRCA1 and BRCA2 mutation carriers and other high-risk women in the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab)." 09/19/2014 - "In 2013, in the UK in particular, there has been unprecedented publicity in hereditary breast cancer, with Angelina Jolie's decision to have genetic testing for the BRCA1 gene and subsequently undergo risk reducing mastectomy (RRM), and a pre-release of the NICE guidelines on familial breast cancer in January and their final release on 26th June. " 11/01/2000 - "Prophylactic bilateral mastectomy represents a new and controversial cancer prevention strategy for women at high-risk of familial breast cancer, the psychosocial implications of which are yet to be fully explored. "
3.	Drug Therapy (Chemotherapy) 01/01/2015 - "Impact of chemotherapy on telomere length in sporadic and familial breast cancer patients." 04/01/2016 - "Patients with familial breast cancer and those who had received chemotherapy or radiotherapy were excluded from the study. " 07/01/2016 - "Promising trials are underway with platinum based chemotherapy and polyADP-ribose polimerase inhibitors for the systemic treatment of familial breast cancer. "
4.	Ligation 06/06/2014 - "A cohort of familial breast cancer patients (N = 57), at risk individuals (N = 25) and healthy controls (N = 23) were analyzed using multiplex ligation-dependent probe amplification method to detect BRCA1 and BRCA2 large genomic rearrangements. " 06/01/2014 - "Multiplex ligation-dependent probe amplification assay was used to identify BRCA1 and BRCA2 genomic rearrangements in 226 Korean familial breast cancer patients with risk factors for BRCA1 and BRCA2 mutations, who previously tested negative for point mutations in the two genes. " 03/01/2013 - "Using multiplex ligation-dependent probe amplification, we showed BRCA1 rearrangements in 4/22 cases (18.2%) of familial breast cancer. " 01/01/2018 - "In this study, we determined the prevalence of BRCA1/2 LGRs in 834 patients with familial breast cancer (FBC) and 660 patients with sporadic triple-negative breast cancer (TNBC) who were negative for BRCA1/2 small-range mutations using the multiplex ligation-dependent probe amplification method. "
5.	Chemoprevention 01/01/2021 - "In England, the National Institute for Health and Care Excellence guideline for familial breast cancer recommends chemoprevention for women at high and moderate familial risk of breast cancer. " 01/01/1998 - "Present prospects of breast cancer prevention are being developed in three main areas: (a) genetics, to understand the real importance of familial breast cancer and genetic testing; (b) lifestyle, to study various risk factors, including delayed first pregnancies and smaller number of pregnancies, and months of breast feeding; (c) chemoprevention, to identify chemical agents potentially able to inhibit the development of invasive cancer either by blocking the DNA damage that initiates carcinogenesis or by arresting or reversing the progression of premalignant cells. " 05/29/2003 - "References for this review article were identified by a search of Medline and PubMed for the years 1990 to 2002; the keywords used were "chemoprevention", "tamoxifen", "COX-2 inhibitors", "NSAIDs", "SERM", "EGFR", "breast cancer", "familial adenomatous polyposis coli", "colorectal cancer", "lung cancer", and "prostate cancer". "