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

The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.

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Screening RAD51C nucleotide alterations in patients with a family history of breast and ovarian cancer

Breast Cancer Research and Treatment ◽

10.1007/s10549-010-1095-5 ◽

2010 ◽

Vol 124 (3) ◽

pp. 857-861 ◽

Cited By ~ 34

Author(s):

Yonglan Zheng ◽

Jing Zhang ◽

Kisha Hope ◽

Qun Niu ◽

Dezheng Huo ◽

...

Keyword(s):

Ovarian Cancer ◽

Family History ◽

Breast And Ovarian Cancer ◽

History Of

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Identification of Women at Risk for Hereditary Breast and Ovarian Cancer in A Sample of 1000 Slovenian Women: A Comparison of Guidelines

10.21203/rs.3.rs-74214/v1 ◽

2020 ◽

Author(s):

Urška Kotnik ◽

Borut Peterlin ◽

Luca Lovrecic

Keyword(s):

Ovarian Cancer ◽

At Risk ◽

Family History ◽

High Risk ◽

Breast And Ovarian Cancer ◽

Nccn Guidelines ◽

Family History Of Cancer ◽

Slovenian Population ◽

History Of ◽

History Of Cancer

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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Family history of breast and ovarian cancer and triple negative subtype in hispanic/latina women

SpringerPlus ◽

10.1186/2193-1801-3-727 ◽

2014 ◽

Vol 3 (1) ◽

pp. 727 ◽

Cited By ~ 7

Author(s):

Kristin Anderson ◽

Patricia A Thompson ◽

Betsy C Wertheim ◽

Lorena Martin ◽

Ian K Komenaka ◽

...

Keyword(s):

Ovarian Cancer ◽

Family History ◽

Triple Negative ◽

Latina Women ◽

Breast And Ovarian Cancer ◽

History Of ◽

Triple Negative Subtype

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Population Prevalence of First-Degree Family History of Breast and Ovarian Cancer in the United States: Implications for Genetic Testing§

The Open Health Services and Policy Journal ◽

10.2174/1874924000801010034 ◽

2008 ◽

Vol 1 (1) ◽

pp. 34-37 ◽

Cited By ~ 4

Author(s):

Ingrid J. Hall ◽

Andrea Middlebrooks ◽

Steven S. Coughlin

Keyword(s):

United States ◽

Ovarian Cancer ◽

Genetic Testing ◽

Family History ◽

The United States ◽

Breast And Ovarian Cancer ◽

Population Prevalence ◽

History Of

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Adiposity post prophylactic oophorectomy in young women at high risk for breast and ovarian cancer.

Journal of Clinical Oncology ◽

10.1200/jco.2013.31.15_suppl.1572 ◽

2013 ◽

Vol 31 (15_suppl) ◽

pp. 1572-1572

Author(s):

Kala Visvanathan ◽

Minh-Huy Huynh ◽

Rawan Al-Lozi ◽

Jessica Oidtman ◽

Betty J May ◽

...

Keyword(s):

Physical Activity ◽

Ovarian Cancer ◽

Family History ◽

Hormone Therapy ◽

Body Fat ◽

Young Women ◽

Age Distribution ◽

Abdominal Circumference ◽

Breast And Ovarian Cancer ◽

History Of

1572 Background: Bilateral prophylactic salpingo-oophorectomy (BPSO) is the current standard of care for BRCA1/2 mutation carriers and women with a strong family history of ovarian cancer. We have previously demonstrated an association between early oophorectomy, adiposity and mortality in the general population. Methods: A cross sectional study was conducted between November 2009 and January 2013 in 87 women with a family history of breast and ovarian cancer and/or BRCA1/2 mutation to identify the effect of early BPSO on multiple health outcomes. Twenty-two women who underwent BPSO within 1 to 5 years of enrollment while premenopausal and not on hormone therapy were compared to 44 premenopausal women with intact ovaries and the same age distribution and 21 postmenopausal women with intact ovaries and not on hormone therapy. Multiple anthropometric measures were taken and % body fat assessed by DEXA scan. Linear regression was used to estimate differences in these measures between the three groups. Results: The mean ages were 47, 47, and 54 years in the BPSO, premenopausal and postmenopausal groups respectively. Parity, alcohol intake, smoking and race did not significantly differ between groups. Fewer BPSO women had ever used oral contraceptives (OCP) compared to the premenopausal group (p =0.05). The BPSO group had lower mean physical activity (p = 0.05) compared to the two other groups. BMI was increased in the BPSO group but was not statistically different across groups. However, mean waist and abdominal circumference and trunk % body fat were significantly higher among women who underwent BPSO compared to both groups. In multivariate analyses adjusting for age, physical activity, and OCP use, the average waist circumference was 7.92 cm (95% CI 1.46, 14.37) higher and 8.98 cm (95% CI 0.40, 17.46) higher in the BPSO group compared to the postmenopausal and premenopausal groups, respectively. A similar pattern was seen for abdominal circumference. Association with % body fat were not statistically significant. Conclusions: This pilot study suggests that increased central adiposity, is a sequelae of BPSO in young women. Longitudinal studies are needed to confirm results and evaluate the efficacy of interventions.

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