Referral of patients with a family history of breast/ovarian cancer--GPs' knowledge and expectations

Abstract Background: An important number of breast and ovarian cancer cases is due to a strong genetic predisposition. The main tool for identifying individuals at risk is recognizing a suggestive family history of cancer. We present a prospective study on applying three selected clinical guidelines to a cohort of 1000 Slovenian women to determine the prevalence of at-risk women according to each of the guidelines and analyze the differences amongst the guidelines.Methods: Personal and family history of cancer was collected for 1000 Slovenian women. Guidelines by three organizations: National Comprehensive Cancer Network (NCCN), American College of Medical Genetics in cooperation with National Society of Genetic Counselors (ACMG/NSGC), and Society of Gynecologic Oncology (SGO) were applied to the cohort. The number of women identified, the characteristics of the high-risk population, and the agreement between the guidelines were explored. Results: NCCN guidelines identify 16.7 % of women, ACMG/NSGC guidelines identify 7.1 % of women, and SGO guidelines identify 7.0 % of women from the Slovenian population, while 6.2 % of women are identified by all three guidelines as having high-risk for hereditary breast and ovarian cancer.Conclusions: We identified 17.4 % of women from the Slovenian population as being at an increased risk for breast and ovarian cancer based on their personal and family history of cancer using all of the guidelines. There are important differences between the guidelines. NCCN guidelines are the most inclusive, identifying more than twice the amount of women as high-risk for hereditary breast and ovarian cancer as compared to the AGMG/NSCG and SGO guidelines in the Slovenian population.

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Ovarian cancer screening in menopausal females with a family history of breast or ovarian cancer

Journal of Gynecologic Oncology ◽

10.3802/jgo.2016.27.e41 ◽

2016 ◽

Vol 27 (4) ◽

Cited By ~ 4

Author(s):

Tiffany Lai ◽

Bruce Kessel ◽

Hyeong Jun Ahn ◽

Keith Y. Terada

Keyword(s):

Ovarian Cancer ◽

Cancer Screening ◽

Family History ◽

Ovarian Cancer Screening ◽

History Of

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Family history of cancer and risk of ovarian cancer

European Journal of Cancer ◽

10.1016/s0959-8049(02)00743-8 ◽

2003 ◽

Vol 39 (4) ◽

pp. 505-510 ◽

Cited By ~ 19

Author(s):

E Negri ◽

C Pelucchi ◽

S Franceschi ◽

M Montella ◽

E Conti ◽

...

Keyword(s):

Ovarian Cancer ◽

Family History ◽

Family History Of Cancer ◽

History Of ◽

History Of Cancer

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A Public Health Education Initiative for Women With a Family History of Breast/Ovarian Cancer: Why Did it Take Angelina Jolie?

Journal of Obstetrics and Gynaecology Canada ◽

10.1016/s1701-2163(15)30856-2 ◽

2013 ◽

Vol 35 (8) ◽

pp. 689-691 ◽

Cited By ~ 8

Author(s):

Jeff Nisker

Keyword(s):

Public Health ◽

Ovarian Cancer ◽

Family History ◽

Health Education ◽

Public Health Education ◽

History Of ◽

Angelina Jolie ◽

Education Initiative

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Prevalence of germline BRCA mutations in HER2-negative metastatic breast cancer: global results from the real-world, observational BREAKOUT study

Breast Cancer Research ◽

10.1186/s13058-020-01349-9 ◽

2020 ◽

Vol 22 (1) ◽

Cited By ~ 1

Author(s):

Joyce O’Shaughnessy ◽

Christine Brezden-Masley ◽

Marina Cazzaniga ◽

Tapashi Dalvi ◽

Graham Walker ◽

...

Keyword(s):

Breast Cancer ◽

Risk Factors ◽

Ovarian Cancer ◽

Risk Factor ◽

Metastatic Breast Cancer ◽

Family History ◽

Metastatic Breast ◽

Cytotoxic Chemotherapy ◽

First Line ◽

History Of

Abstract Background The global observational BREAKOUT study investigated germline BRCA mutation (gBRCAm) prevalence in a population of patients with human epidermal growth factor receptor 2 (HER2)-negative metastatic breast cancer (MBC). Methods Eligible patients had initiated first-line cytotoxic chemotherapy for HER2-negative MBC within 90 days prior to enrollment. Hormone receptor (HR)-positive patients had experienced disease progression on or after prior endocrine therapy, or endocrine therapy was considered unsuitable. gBRCAm status was determined using baseline blood samples or prior germline test results. For patients with a negative gBRCAm test, archival tissue was tested for somatic BRCAm and homologous recombination repair mutations (HRRm). Details of first-line cytotoxic chemotherapy were also collected. Results Between March 2017 and April 2018, 384 patients from 14 countries were screened and consented to study enrollment; 341 patients were included in the full analysis set (median [range] age at enrollment: 56 [25–89] years; 256 (75.3%) postmenopausal). Overall, 33 patients (9.7%) had a gBRCAm (16 [4.7%] in gBRCA1 only, 12 [3.5%] in gBRCA2 only, and 5 [1.5%] in both gBRCA1 and gBRCA2). gBRCAm prevalence was similar in HR-positive and HR-negative patients. gBRCAm prevalence was 9.0% in European patients and 10.6% in Asian patients and was higher in patients aged ≤ 50 years at initial breast cancer (BC) diagnosis (12.9%) than patients aged > 50 years (5.4%). In patients with any risk factor for having a gBRCAm (family history of BC and/or ovarian cancer, aged ≤ 50 years at initial BC diagnosis, or triple-negative BC), prevalence was 10.4%, versus 5.8% in patients without these risk factors. HRRm prevalence was 14.1% (n = 9/64) in patients with germline BRCA wildtype. Conclusions Patient demographic and disease characteristics supported the association of a gBRCAm with younger age at initial BC diagnosis and family history of BC and/or ovarian cancer. gBRCAm prevalence in this cohort, not selected on the basis of risk factors for gBRCAm, was slightly higher than previous results suggested. gBRCAm prevalence among patients without a traditional risk factor for harboring a gBRCAm (5.8%) supports current guideline recommendations of routine gBRCAm testing in HER2-negative MBC, as these patients may benefit from poly(ADP-ribose) polymerase (PARP) inhibitor therapy. Trial registration NCT03078036.

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