Combined hormonal contraceptives in <i>BRCA</i> gene mutation carriers: why not?

BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndromes are among the best-known and most extensively studied hereditary cancer syndromes. Nevertheless, many patients who proved negative at BRCA genetic testing bring pathogenic mutations in other suppressor genes and oncogenes associated with hereditary breast and/or ovarian cancers. These genes include TP53 in Li–Fraumeni syndrome, PTEN in Cowden syndrome, mismatch repair (MMR) genes in Lynch syndrome, CDH1 in diffuse gastric cancer syndrome, STK11 in Peutz–Jeghers syndrome, and NF1 in neurofibromatosis type 1 syndrome. To these, several other genes can be added that act jointly with BRCA1 and BRCA2 in the double-strand break repair system, such as PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D. Management of primary and secondary cancer prevention in these hereditary cancer syndromes is crucial. In particular, secondary prevention by screening aims to discover precancerous lesions or cancers at their initial stages because early detection could allow for effective treatment and a full recovery. The present review aims to summarize the available literature and suggest proper screening strategies for hereditary breast and/or ovarian cancer syndromes other than BRCA.

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“…Cancer prevention can be divided into primary and secondary strategies [16][17][18][19][20][21][22][23].…”

Section: Management Of Cancer Prevention Is Crucial In Hcssmentioning

confidence: 99%

Secondary Prevention in Hereditary Breast and/or Ovarian Cancer Syndromes Other Than BRCA

Piombino

Cortesi

Lambertini

et al. 2020

Journal of Oncology

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“…The identification of a mutation in BRCA genes plays a crucial role in the management of hereditary cancer prevention, diagnosis and treatment [2,[5][6][7][8][9][10]. Nonetheless, because of the high costs associated with genetic analyses, especially in those countries where BRCA testing is offered by the national health service, BRCA testing has been restricted to BC patients having an a priori high risk of being carriers or candidates for approved targeted treatment strategies (i.e., PARP inhibitors [11]).…”

Section: Introductionmentioning

confidence: 99%

BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy

Toss

Molinaro

Venturelli

et al. 2020

Cancers

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NCCN Guidelines recommend BRCA genetic testing in individuals with a probability >5% of being a carrier. Nonetheless, the cost-effectiveness of testing individuals with no tumor family history is still debated, especially when BRCA testing is offered by the national health service. Our analysis evaluated the rate of BRCA pathogenic or likely-pathogenic variants in 159 triple-negative breast cancer (TNBC) patients diagnosed ≤60 years, and 109 luminal-like breast cancer (BC) patients diagnosed ≤35 without breast and/or ovarian family histories. In TNBC patients, BRCA mutation prevalence was 22.6% (21.4% BRCA1). Mutation prevalence was 64.2% ≤30 years, 31.8% in patients aged 31–40, 16.1% for those aged 41–50 and 7.9% in 51–60 s. A total of 40% of patients with estrogen receptors (ER) 1–9% were BRCA1 carriers. BRCA detection rate in early-onset BCs was 6.4% (4.6% BRCA2). Mutation prevalence was 0% between 0–25 years, 9% between 26–30 years and 6% between 31–35 years. In conclusion, BRCA testing is recommended in TNBC patients diagnosed ≤60 years, regardless of family cancer history or histotype, and by using immunohistochemical staining <10% for both ER and/PR. In luminal-like early-onset BC, a lower BRCA detection rate was observed, suggesting a role for other predisposing genes along with BRCA genetic testing.

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“…For these reasons, COCs could be used as a chemoprophylactic strategy for younger women with a BRCA1 or BRCA2 gene mutation. 47 Observational studies have also shown a reduction in functional ovarian cysts and benign ovarian tumours development in COC users, 48 which are very common in this life stage.…”

Section: Contraception In Perimenopause: Is There Need or Not?mentioning

confidence: 99%

Contraception During Perimenopause: Practical Guidance

Grandi¹,

Vinci²,

Sgandurra³

et al. 2022

IJWH

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Climacteric is by no means in itself a contraindication to safe contraception. On the contrary, there are several conditions related to the perimenopause that could benefit from the use of modern contraceptives, mainly hormonal, with the goals of avoiding unintended pregnancies and giving further possible benefits beyond contraception (menstrual cycle control, a reduction of vasomotor symptoms and menstrual migraines, a protection against bone loss, a positive oncological risk/benefit balance). This narrative review aims to provide practical guidance on their possible use in this particular life stage, both short- and long-acting reversible contraceptives, and to assist clinicians for women transitioning from contraception to their menopausal years, including the possible initiation of postmenopausal hormone therapy. Comprehensive contraceptive counselling is an essential aspect of the overall health and wellbeing of women and should be addressed with each such patient irrespective of age.

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Combined hormonal contraceptives in BRCA gene mutation carriers: why not?

Cited by 6 publications

References 14 publications

Secondary Prevention in Hereditary Breast and/or Ovarian Cancer Syndromes Other Than BRCA

Secondary Prevention in Hereditary Breast and/or Ovarian Cancer Syndromes Other Than BRCA

BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy

Contraception During Perimenopause: Practical Guidance

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