Familial breast cancer in Spain: A retrospective study of family history and clinical/pathologic characteristics from the GEICAM “El Álamo III” project.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. e12513-e12513
Author(s):  
Ivan Marquez-Rodas ◽  
Marina Pollán ◽  
Ana Lluch ◽  
Teresa Ramon y Cajal ◽  
Angel Guerrero-Zotano ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Retrospective Study ◽  
Family History ◽  
High Risk ◽  
Age Of Onset ◽  
Bilateral Breast Cancer ◽  
Population Based ◽  
International Consensus ◽  
Study Characteristics

e12513 Background: Family history (FH) of breast cancer (BC), ovarian cancer (OC), and individual features (IF), like early age of onset, bilateral BC, coexistence of BC and OC, and triple negative BC (TNBC) younger than 50 years, are suspicion criteria of hereditary BC. Although it is assumed in the literature that 15-30% of BC cases can be familial BC (FBC), only 5-10% of BC are hereditary, explained by a germline mutation in BRCA1 or 2. Moreover, there is no international consensus to define FBC (e.g. number of relatives affected, age of onset), in contrast with, e.g. Lynch syndrome and Amsterdam/Bethesda criteria, in order to offer genetic counseling. In Spain, there are not population-based studies analyzing the real percentage of BC with familial and/or individual high risk features. Methods: A retrospective study based on 10,641 Spanish BC patients diagnosed from 1998-2001, collected in the “El Álamo III project”, was conducted. Specific data regarding FBC were analyzed: IF (age of onset, bilateral breast cancer, ovarian cancer and TNBC; and FH features (first and second degree relatives with BC and /or OC). Results: The Table summarizes the results. Conclusions: 21% of BC patients in Spain diagnosed from 1998 to 2001 have at least one relative with BC and/or OC. In addition, 2.8 % of patients with no FH of BC/OC fulfill high risk criteria. However, several study characteristics, such as 18% patients with no FH recorded, and lack of data regarding age of affected relatives, limit the interpretation of these results, being necessary to improve the family data collection in further “El Álamo” project studies. [Table: see text]

Genetic testing in young women with breast cancer: Results from a web-based survey

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 21093-21093
Author(s):  
J. A. Shin ◽  
S. Gelber ◽  
J. Garber ◽  
R. Rosenberg ◽  
M. Przypyszny ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Testing ◽  
Family History ◽  
High Risk ◽  
Young Women ◽  
College Education ◽  
Web Based ◽  
Increased Risk ◽  
History Of

21093 Background: Young women with breast cancer have an increased risk of harboring a BRCA1/2 mutation. The frequency of genetic testing in this population is not well described. We evaluated the reported frequency and factors associated with genetic testing among young breast cancer survivors identified through the Young Survival Coalition (YSC), an international advocacy group for young women with breast cancer. Methods: Items regarding family history and genetic testing were included in a large web-based survey addressing quality of life and fertility issues for young women with breast cancer. All YSC members were invited by email in March 2003 (N= 1,703 women) to participate in this cross-sectional survey. Results: 657 women completed the on-line survey; 622 were eligible for this analysis (age <40, no metastatic or recurrent disease). Mean age at breast cancer diagnosis was 33 years; mean age when surveyed 35.5 years. Stages included: 0 (10%), I (27%), II (49%), III (12%), missing (3%). 90% of women were white; 64% married; 49% with children; 78% had at least a college education; 42% of women reported a 1st or 2nd degree relative with breast or ovarian cancer, and 13% considered themselves high-risk for harboring a genetic mutation at the time of diagnosis. At the time of the survey, 23% of women had undergone genetic testing, and 26% of those tested reported that a mutation was found. In a multivariate model, women who were younger (age 36–40 vs. age =30, O.R. 2.26, p=0.004), more educated (< college vs. > college education, O.R. 2.62, p=0.0009), had a family history of breast or ovarian cancer (O.R. 3.15, p<0.0001), and had had a mastectomy (O.R. 1.99, p=0.001) were more likely to have undergone genetic testing. Non-significant covariates included: age at survey, stage, time since diagnosis, race, marital status, employment, finances, insurance, number of children, comorbidities, baseline anxiety and depression, and fear of recurrence. Conclusion: The majority of women diagnosed with breast cancer age 40 and younger do not undergo genetic testing. Younger, more educated women with a family history of breast or ovarian cancer are more likely to get tested. Further research to define the appropriateness of genetic testing in this relatively high-risk population is warranted. No significant financial relationships to disclose.

Influence of young age at diagnosis and family history of breast or ovarian cancer on breast cancer outcomes in a population-based cohort study

2006 ◽  
Vol 105 (1) ◽  
pp. 69-80 ◽  
Author(s):  
Jane C. Figueiredo ◽  
Marguerite Ennis ◽  
Julia A. Knight ◽  
John R. McLaughlin ◽  
Nicky Hood ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Cohort Study ◽  
Family History ◽  
Population Based ◽  
Young Age ◽  
Age At Diagnosis ◽  
Cancer Outcomes ◽  
Breast Cancer Outcomes ◽  
History Of

Hereditary Breast-Ovarian Cancer at the Bedside: Role of the Medical Oncologist

2003 ◽  
Vol 21 (4) ◽  
pp. 740-753 ◽  
Author(s):  
Henry T. Lynch ◽  
Carrie L. Snyder ◽  
Jane F. Lynch ◽  
Bronson D. Riley ◽  
Wendy S. Rubinstein
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Family History ◽  
High Risk ◽  
Hereditary Breast Cancer ◽  
Present Report ◽  
Brca1 And Brca2 ◽  
Cancer Family ◽  
Hereditary Breast Ovarian Cancer

Purpose: To provide practical considerations for diagnosing, counseling, and managing patients at high risk for hereditary breast cancer. Design: We have studied 98 extended hereditary breast cancer (HBC)/hereditary breast-ovarian cancer (HBOC) families with BRCA1/2 germline mutations. From these families, 1,315 individuals were counseled and sampled for DNA testing. Herein, 716 of these individuals received their DNA test results in concert with genetic counseling. Several challenging pedigrees were selected from Creighton University’s hereditary cancer family registry, as well as one family from Evanston/Northwestern Healthcare, to be discussed in this present report. Results: Many obstacles were identified in diagnosis, counseling, and managing patients at high risk for HBC/HBOC. These obstacles were early noncancer death of key relatives, perception of insurance or employment discrimination, fear, anxiety, apprehension, reduced gene penetrance, and poor compliance. Other important issues such as physician culpability and malpractice implications for failure to collect or act on the cancer family history were identified. Conclusion: When clinical gene testing emerged for BRCA1 and BRCA2, little was known about the efficacy of medical interventions. Potential barriers to uptake of testing were largely unexplored. Identification and referral of high-risk patients and families to genetic counseling can greatly enhance the care of the population at the highest risk for cancer. However, because premonitory physical stigmata are absent in most of these syndromes, an HBOC diagnosis may be missed unless a careful family history of cancer of the breast, ovary, or several integrally associated cancers is obtained.

Risk of ovarian cancer in breast-cancer patients with a family history of breast or ovarian cancer: a population-based cohort study

The Lancet ◽  
2002 ◽  
Vol 360 (9337) ◽  
pp. 891-894 ◽  
Author(s):  
Kjell Bergfeldt ◽  
Bosse Rydh ◽  
Fredrik Granath ◽  
Henrik Grönberg ◽  
Lukman Thalib ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Cohort Study ◽  
Family History ◽  
Cancer Patients ◽  
Population Based ◽  
Breast Cancer Patients ◽  
History Of

scholarly journals Family history of breast or ovarian cancer modifies the risk of secondary leukemia after breast cancer: Results from a population-based study

2007 ◽  
Vol 122 (5) ◽  
pp. 1114-1117 ◽  
Author(s):  
Helena M. Verkooijen ◽  
Gerald Fioretta ◽  
Elisabetta Rapiti ◽  
Georges Vlastos ◽  
Isabelle Neyroud-Caspar ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Family History ◽  
Population Based ◽  
Secondary Leukemia ◽  
Population Based Study ◽  
History Of

Breast Cancer Onset in Twins and Women With Bilateral Disease

2008 ◽  
Vol 26 (25) ◽  
pp. 4086-4091 ◽  
Author(s):  
Mikael Hartman ◽  
Per Hall ◽  
Gustaf Edgren ◽  
Marie Reilly ◽  
Linda Lindstrom ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Relative Risk ◽  
High Risk ◽  
Bilateral Breast Cancer ◽  
Risk Groups ◽  
Population Based ◽  
Dizygotic Twin ◽  
Breast Cancer Patients ◽  
Degree Relative ◽  
Risk Of Cancer

Purpose Little is known of the onset of breast cancer in high-risk populations. We investigated the risk of breast cancer in twin sisters and in the contralateral breast taking family history into consideration. Patients and Methods We analyzed a Scandinavian population-based cohort of 2,499 female twin pairs, in which at least one had a diagnosis of breast cancer and estimated the risk of breast cancer in the sister. Using a total of 11 million individuals in Sweden with complete family links, we identified 93,448 women with breast cancer and estimated the risk of a bilateral breast cancer. Results The incidence of breast cancer in twin sisters of breast cancer patients was 0.64% per year and 0.42% per year in mono- and dizygotic twin sisters, respectively. In comparison, the risk of familial (affected first-degree relative) and nonfamilial bilateral breast cancer was 1.03% per year and 0.68% per year, respectively. Contrary to the risk of unilateral disease, the risk of cancer in the nonaffected twin and the opposite breast was not affected by age or time since first event. The relative risk of familial bilateral cancer was 52% higher (incidence rate ratio [IRR] = 1.52; 95% CI, 1.42 to 1.64) and the relative risk in the dizygotic twin sister was 25% lower (IRR = 0.75; 95% CI, 0.61 to 0.91) compared with the risk of nonfamilial bilateral cancer. Conclusion The elevated risk of breast cancer in high-risk groups is little affected by age and time since diagnosis. Our findings suggest that susceptible groups of women might have already aggregated genetic prerequisites for breast cancer.

PALB2 mutations in high-risk women with breast or ovarian cancer.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 1527-1527 ◽  
Author(s):  
Kelly A. Metcalfe ◽  
Mohammad R Akbari ◽  
Steven Narod ◽  
Jordan Lerner-Ellis
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Testing ◽  
High Risk ◽  
Brca Mutation ◽  
Bilateral Breast Cancer ◽  
Brca1 And Brca2 ◽  
Unilateral Breast Cancer ◽  
High Risk Women ◽  
Significant Difference

1527 Background: In Canada, genetic testing for BRCA1 and BRCA2 is available free of charge to women who meet eligibility criteria, based on personal and family history of cancer. Less than 10% of women are identified with a BRCA mutation, despite features of hereditary cancer. PALB2 has been identified as a moderate penetrance gene in various populations. In the current study, we examined the frequency of PALB2 mutations in women with breast or ovarian cancer who met criteria for genetic testing for BRCA1 and BRCA2and tested negative. Methods: DNA samples from women with breast or ovarian cancer, who met criteria for provincial BRCA1 and BRCA2 genetic testing and tested negative between the years of 2007 and 2014 were included in this study. All 13 coding exons of PALB2 plus 20 base pairs from the exon boundaries were amplified using Wafergen SmartChip technology. The amplified DNA were paired-end sequenced at 2x250 cycles using an Illumina MiSeq sequencer. Results: 2,225 women with breast cancer and 429 women with ovarian cancer were tested for PALB2 mutations. No PALB2 mutations were found in women with ovarian cancer. Seventeen deleterious PALB2 mutations were detected in women with breast cancer (0.8%). The frequency of PALB2 mutations was significantly higher in women with bilateral breast cancer (2.4%) compared to women with unilateral breast cancer (0.6%) (p = 0.01). There was no significant difference in age at diagnosis between those with and without a PALB2mutation (50.9 years vs 53.8 years; p = 0.34). Conclusions: Genetic testing for PALB2 should be considered for high-risk women with breast cancer, especially those who present with bilateral breast cancer. However, PALB2 does not appear to contribute to ovarian cancer which has implications for counselling women who are identified with a PALB2 mutation.

scholarly journals Hereditary Susceptibility to Breast Cancer: Significance of Age of Onset in Family History and Contribution of BRCA1 and BRCA2

1999 ◽  
Vol 15 (1-3) ◽  
pp. 89-92 ◽  
Author(s):  
Thomas S. Frank ◽  
Amie M. Deffenbaugh ◽  
Mark Hulick ◽  
Kathryn Gumpper
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Family History ◽  
Early Onset ◽  
Age Of Onset ◽  
Early Onset Breast Cancer ◽  
Brca1 And Brca2 ◽  
Degree Relative ◽  
Age Of Diagnosis ◽  
History Of

OBJECTIVE: To correlate mutations in BRCA1 and BRCA2 with family history of breast cancer in a first-degree relative for women diagnosed with breast cancer before age 45 who do not have a personal or family history of ovarian cancer.METHODS: Family history for women with breast cancer diagnosed before age 45 was provided by ordering physicians via a test requisition form designed for this purpose. Gene analysis was performed by dye primer sequencing for the entire coding regions of BRCA1 and BRCA2. Because a personal and family history of ovarian cancer are known to be significantly associated with mutations, women with either were excluded from analysis.RESULTS: Overall, deleterious mutations in BRCA1 or BRCA2 were identified in 85 of 440 women (19%) with breast cancer under 45. Mutations were identified in 73 of 276 women (26%) with a first degree family history of breast cancer compared to 12 of 164 without (7%) (P <.0001). When results were analyzed by the age of diagnosis in first degree relatives, mutations were identified in 56 of 185 women (30%) with at least one first degree relative with breast cancer diagnosed before age 50 compared with 17 of 91 women (19%), where the first degree family history of breast cancer was at or over age 50 (P = .042).CONCLUSION: Among women with breast cancer diagnosed before age 45, a first-degree relative diagnosed with the disease under age 50 is an indicator of a mutation in BRCAl or BRCA2 even in the absence of a family history of ovarian cancer. Therefore, women diagnosed with early-onset breast cancer should be asked about the age of onset in any first-degree relative diagnosed with the disease, as well as about any family history of ovarian cancer. Mutations in BRCA2 account for a substantial proportion of hereditary breast cancer. Therefore, studies that are limited to BRCA1 or that do not analyze by age of onset of breast cancer in relatives may underestimate the contribution of mutations in BRCAl and BRCA2 to women with early onset breast cancer.

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